Page last updated: 2024-08-23

1-deoxynojirimycin and migalastat

1-deoxynojirimycin has been researched along with migalastat in 126 studies

Research

Studies (126)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	5 (3.97)	18.2507
2000's	33 (26.19)	29.6817
2010's	62 (49.21)	24.3611
2020's	26 (20.63)	2.80

Authors

Authors	Studies
Adachi, I; Asano, N; Banba, Y; Ikeda, K; Kano, E; Kato, A; Kato, N; Okamoto, T; Ouchi, H; Takahata, H; Yu, L	1
Greimel, P; Häusler, H; Lundt, I; Rupitz, K; Stütz, AE; Tarling, CA; Withers, SG; Wrodnigg, TM	1
Aerts, JM; Bijl, N; Boot, RG; Copeland, D; Ghauharali, K; Groen, AK; Groener, JE; Liu, H; Meijer, AJ; O'Shea, TJ; Ottenhoff, R; Overkleeft, HS; Song, H; van den Berg, RJ; van der Marel, GA; van Eijk, M; Wennekes, T; Yew, N	1
Burke, JR; De Csáky, CM; Pototschnig, G; Schitter, G; Stütz, AE; Tarling, CA; Withers, SG; Wrodnigg, TM	1
Benjamin, ER; Boyd, RE; Khanna, R; Lee, G; Rybczynski, P; Valenzano, KJ; Wustman, BA	1
Ballhausen, D; Biela-Banaś, A; Burda, P; Caciotti, A; Charollais-Thoenig, J; Demotz, S; Front, S; Gallienne, E; Higaki, K; Martin, OR; Morrone, A	1
Frances, DE; Furlan, RLE; Gamarra, MD; Lambertucci, F; Moreno, DM; Osella, MI; Salazar, MO	1
Block, T; Butters, T; Dwek, R; Lu, X; Mehta, A	1
Butters, TD; Dwek, RA; Karlsson, GB; Neises, GR; Platt, FM	1
Brigande, JV; Platt, FM; Seyfried, TN	1
Hirabayashi, Y; Irie, F	1
Asano, N; Fan, JQ; Ishii, S; Suzuki, Y	1
Andersson, U; Butters, TD; Dwek, RA; Platt, FM	1
Asano, N; Fan, JQ; Ikeda, K; Ishii, S; Kato, A; Kizu, H; Martin, OR; Yasuda, K	1
Butters, T; Dwek, R; Frendeus, B; Platt, F; Svanborg, C; Svensson, M	1
Matsuda, J; Nanba, E; Ogawa, Y; Ohno, K; Oshima, A; Suzuki, Y; Taniguchi, M; Tominaga, L	1
Germain, DP	1
Arts, IC; Faassen-Peters, M; Hollman, PC; Sesink, AL	1
Kolter, T; Wendeler, M	1
Dwek, RA; Lloyd-Evans, E; Neville, DC; Platt, FM; Sillence, DJ; te Vruchte, D; van Blitterswijk, WJ; Veldman, RJ	1
D'Azzo, A; El-Abbadi, MM; Hauser, EC; Kasperzyk, JL; Platt, FM; Seyfried, TN	1
Andersson, U; Borja, MC; Butters, TD; Dwek, RA; Jeyakumar, M; Platt, FM; Smith, D	1
Borja, MC; Butters, TD; Dwek, RA; Jeyakumar, M; Neville, DC; Platt, FM; Smith, DA; Williams, IM	1
Butters, TD; Dwek, RA; Platt, FM; Suganuma, R; van der Spoel, AC; Walden, CM; Yanagimachi, R	1
Roth, J; Yam, GH; Zuber, C	1
Alroy, J; d'Azzo, A; Kasperzyk, JL; Platt, FM; Seyfried, TN	1
Falguières, T; Jarvis, RM; Johannes, L; Lord, JM; Platt, FM; Roberts, LM; Sillence, DJ; Smith, DC	1
Bosshard, N; Roth, J; Steinmann, B; Yam, GH; Zuber, C	1
Brady, RO	1
Baek, RC; Butters, TD; Clark, D; Clarke, J; Dwek, RA; Fu, G; Gonzalez, R; Jeyakumar, M; Lee, JP; Lee, PJ; Lipton, SA; McKercher, S; Meerloo, J; Muller, FJ; Park, KI; Platt, FM; Rose, H; Schwartz, P; Seyfried, TN; Snyder, EY; Takahashi, H; Tong, G; Wenger, D	1
Chang, HH; Fan, JQ; Garman, SC; Ishii, S; Kawasaki, K; Wu, HL; Yasuda, K	1
Butters, TD; Chuang, CC; Dwek, RA; Platt, FM; Sandhoff, R; van der Spoel, AC; Walden, CM; Yildiz, Y	1
Baek, RC; Kasperzyk, JL; Platt, FM; Seyfried, TN	1
Butters, TD; d'Azzo, A; Dwek, RA; Elliot-Smith, E; Jeyakumar, M; Lloyd-Evans, E; Platt, FM; Smith, DA; Speak, AO; van der Spoel, AC	1
Brady, RO; Cooney, AM; Kaneski, CR; Kluepfel-Stahl, S; Murray, GJ; Quirk, JM; Schiffmann, R; Shin, SH	1
Chang, HH; Fan, JQ; Higuchi, Y; Ishii, S; Mannen, K; Shimada, T; Taguchi, A; Yoshioka, H	1
Itoh, K; Iwamoto, K; Kawashima, I; Kobayashi, T; Ohno, K; Saito, S; Sakuraba, H; Sugawara, K; Tajima, Y; Tsukimura, T	1
Butters, TD; Ganeshaguru, K; Gerrard, G; Mehta, AB	1
Bilyeu, KD; Dierking, EC	1
Kim, GH; Kim, SS; Ko, JM; Lee, JJ; Park, JY; Yoo, HW	1
Agarwal, L; Benjamin, ER; Chang, HH; Desnick, RJ; Flanagan, JJ; Katz, E; Lockhart, DJ; Pine, C; Schilling, A; Valenzano, KJ; Wu, X; Wustman, B	1
Austin, CP; Goldin, E; Griffiths, GL; Liu, K; Motabar, O; Shi, ZD; Sidransky, E; Southall, N; Zheng, W	1
Benjamin, ER; Brignol, N; Desnick, RJ; Feng, J; Frascella, M; Khanna, R; Lockhart, DJ; Lun, Y; Pellegrino, L; Sitaraman, SA; Soska, R; Valenzano, KJ; Young, B	1
Fan, JQ; Germain, DP	1
Karjalainen, OK; Koskinen, AM; Passiniemi, M	1
Boomkamp, SD; Butters, TD; Dwek, RA; Fleet, GW; Neville, DC; Rountree, JS	1
Baek, RC; Bronson, RT; Butters, TD; Denny, CA; Heinecke, KA; Kim, YP; Loh, KS; Platt, FM; Seyfried, TN	1
Hatanaka, K; Kato, T; Muraoka, M	1
Aerts, JM; Boot, RG; Brussee, J; Engelsma, SE; Overkleeft, HS; Risseeuw, MD; Ruben, M; van den Berg, RJ; van den Nieuwendijk, AM; van der Marel, GA	1
Furukawa, K; Hamanaka, R; Ishii, S; Kulkarni, AB; Kunieda, T; Mannen, K; Matsuda, J; Noguchi, Y; Shiozuka, C; Taguchi, A; Uchio-Yamada, K; Yano, S; Yokoyama, S; Yoshioka, H	1
Neumann, PM; Rozenfeld, P	1
Benjamin, ER; Boudes, P; Castelli, JP; Della Valle, MC; Flanagan, JJ; Katz, E; Lockhart, DJ; Mascioli, K; Schiffmann, R; Valenzano, KJ; Wu, X	1
Lambourne, MD; Potter, MA	1
Ochi, T; Ohto, U; Satow, Y; Shimizu, T; Usui, K; Yuki, K	1
Acampora, E; Andria, G; Avolio, V; Gagliardo, C; la Marca, G; Materazzi, S; Parenti, G; Pisani, A; Porto, C; Rosa, M; Tuzzi, MR; Visciano, B	1
Clark, NE; Garman, SC; Guce, AI; Rogich, JJ	1
Ishii, S	1
Arthur, JR; Lee, JP; Seyfried, TN; Snyder, EY	1
Broersen, K; Couceiro, J; De Baets, G; Gallardo, R; Reumers, J; Rousseau, F; Rudyak, S; Schymkowitz, J; Siekierska, A; Van Durme, J	1
Aguilar-Moncayo, M; García Fernández, JM; García-Moreno, MI; Higaki, K; Hirano, Y; Mena-Barragán, T; Nanba, E; Ninomiya, H; Ohno, K; Ortiz Mellet, C; Sakakibara, Y; Suzuki, Y; Takai, T; Yu, L; Yura, K	1
Benjamin, ER; Boudes, P; Brignol, N; Chang, HH; Fuller, M; Germain, DP; Giugliani, R; Hughes, DA; Khanna, R; Lockhart, DJ; Mehta, A; Nicholls, K; Sitaraman, SA; Soska, R; Valenzano, KJ; Young-Gqamana, B	1
Benjamin, ER; Bichet, DG; Boudes, PF; Bragat, AC; Castelli, JP; Germain, DP; Giugliani, R; Nicholls, K; Simosky, JK; Waldek, S	1
Platt, FM; Rahim, AA; Ridley, CM; Shanahan, J; Shen, A; Thillaiappan, NB; Thur, KE; Uhl, K; van der Spoel, AC; Waddington, SN; Walden, CM	1
Andreotti, G; Cammisa, M; Correra, A; Cubellis, MV	1
Giese, AK; Grittner, U; Kolodny, E; Lackner, KJ; Lukas, J; Markoff, A; Mascher, H; Meyer, W; Rolfs, A; Saviouk, V; Wree, P	1
Corkran, HM; Dangerfield, EM; Munneke, S; Stocker, BL; Timmer, MS	1
Higaki, K; Nanba, E; Ninomiya, H; Suzuki, Y	1
Drury, JE; García Fernández, JM; Higaki, K; Johnson, JL; Lieberman, RL; Mellet, CO; Mena-Barragán, T; Nakasone, N; Nanba, E; Ninomiya, H; Ohno, K; Sakuraba, H; Suzuki, Y; Tsukimura, T; Yu, Y	1
Beller, M; Giese, AK; Gläser, A; Lukas, J; Pockrandt, AM; Pohlers, S; Rolfs, A; Runge, F; Seemann, S; Sharif, M; Zheng, C	1
Andreotti, G; Cubellis, MV; Monticelli, M	1
Chacko, S; Ramapanicker, R	1
Adera, M; Barlow, C; Barth, J; Bichet, DG; Boudes, P; Eyskens, F; Flanagan, JJ; Goker-Alpan, O; Holida, M; Johnson, FK; Khanna, R; Lockhart, DJ; Nicholls, K; Shankar, S; Sitaraman, S; Thomas, M; Valenzano, KJ; Warnock, DG; Wustman, BA	1
Barlow, C; Boudes, P; DiMino, T; France, N; Johnson, FK; Mudd, PN; Sitaraman, S; Vosk, J	1
Markham, A	1
Baris, H; Cohen, IJ; Mistry, PK; Sands, MS	1
Amartino, H; Banikazemi, M; Barlow, C; Barth, J; Benjamin, ER; Bichet, DG; Bratkovic, D; Castelli, J; Charrow, J; Dasouki, M; Ezgu, F; Feldt-Rasmussen, U; Feliciani, C; Finegold, D; Germain, DP; Giraldo, P; Giugliani, R; Goker-Alpan, O; Hughes, DA; Johnson, F; Jovanovic, A; Kirk, J; Lockhart, DJ; Longo, N; Lourenco, CM; Ludington, E; Nedd, K; Nicholls, K; Packman, S; Schiffmann, R; Scott, CR; Shankar, SP; Sharaf El Din, U; Skuban, N; Torra, R; Tuffaha, A; Viereck, C; Waldek, S; Wilcox, WR; Yu, J	1
Barlow, C; Barth, J; Benjamin, ER; Bichet, DG; Bond, S; Bronfin, B; Castelli, J; Della Valle, MC; Desnick, RJ; Germain, DP; Giugliani, R; Hughes, D; Katz, E; Kirk, J; Lockhart, DJ; Pruthi, F; Schiffmann, R; Valenzano, KJ; Wilcox, WR; Williams, H; Wu, X; Yu, J	1
Gaggl, M; Sunder-Plassmann, G	1
Barlow, C; Barth, J; Benjamin, ER; Bichet, DG; Boudes, P; Castelli, JP; Deegan, P; Dimmock, D; Eyskens, F; Feldt-Rasmussen, U; Germain, DP; Goker-Alpan, O; Hachulla, E; Hamazaki, T; Hughes, DA; Johnson, F; Jovanovic, A; Kirk, J; Koeller, D; Lachmann, R; Lockhart, DJ; Lourenco, CM; Ludington, E; Narita, I; Nedd, K; Nicholls, K; Ohashi, T; Olivotto, I; Sakai, N; Schiffmann, R; Shankar, SP; Skuban, N; Sunder-Plassmann, G; Thomas, M; Viereck, C; Vockley, G; Wilcox, WR; Yu, J	1
Andreotti, G; Cammisa, M; Cimmaruta, C; Citro, V; Cubellis, MV; Liguori, L; Lukas, J	1
Deming, DT; Garman, SC; Gierasch, LM; Hingorani, KS; Metcalf, MC; Powers, ET	1
Dingemanse, J; Guérard, N; Zwingelstein, C	1
Dingemanse, J; Guérard, N; Morand, O; Nordbeck, P; Oder, D; Wanner, C; Welford, RWD; Zwingelstein, C	1
Barth, JA; Benjamin, ER; Castelli, JP; Mauer, M; Najafian, B; Sokolovskiy, A; Williams, HN	1
Gensler, D; Müntze, J; Nordbeck, P; Salinger, T; Wanner, C	1
Ambros, JT; Andrés, A; Bernabéu, AÁ; de Dios García Díaz, J; de Juan-Rivera, J; Del Pino, M; Fernández, E; Fernández, IM; Hernández, D; Luño, J; Paniagua, J; Posada de la Paz, M; Rodríguez-Pérez, JC; Santamaría, R; Torra, R; Torregrosa, JV; Vidau, P	1
Barisoni, L; Barth, JA; Bichet, DG; Castelli, JP; Colvin, RB; Feldt-Rasmussen, U; Giugliani, R; Holdbrook, F; Hughes, DA; Jennette, JC; Jovanovic, A; Mulberg, A; Nicholls, K; Schiffmann, R; Shankar, SP; Skuban, N	1
Garzotti, M; Groenen, PMA; Morand, O; Mühlemann, A; Probst, MR; Rickert, V; Üçeyler, N; Welford, RWD	1
Moran, N	1
Cui, G; Huang, J; Wang, DW; Zeng, H; Zhou, C; Zhou, Q	1
Chakraborty, C; George Priya Doss, C; Judith, E; Priyadharshini Christy, J; Siva, R; Tayubi, IA; Thirumal Kumar, D; Zayed, H	1
McCafferty, EH; Scott, LJ	1
Barth, JA; Bichet, DG; Castelli, JP; Feldt-Rasmussen, U; Giugliani, R; Hughes, DA; Jain, V; Jovanovic, A; Nicholls, K; Schiffmann, R; Skuban, N; Sunder-Plassmann, G; Viereck, C	1
Higuchi, T; Ida, H; Kaneshiro, E; Kobayashi, M; Ohashi, T	1
Auray-Blais, C; Ballmaier, PJ; Boutin, M; Brand, E; Brand, SM; Lenders, M; Niemietz, C; Schmidt, H; Schmitz, B; Stappers, F; Zibert, A	1
Gurevich, A; Meiyappan, M; Oommen, S; Qiu, Y; Zhou, Y	1
Ohashi, T	1
Müntze, J; Nordbeck, P	1
Feldt-Rasmussen, U; Kantola, I; Körver, S; Langeveld, M; Svarstad, E	1
Mignani, R	1
Bordet, C; Charron, P; Khrouf, W; Koraichi, F; Lamari, F; Lidove, O; London, J; Mauhin, W	1
Barbey, F; Beuschlein, F; Huynh-Do, U; Krayenbuehl, PA; Nowak, A; Schiffmann, R	1
Aranda, C; Bosco Pesquero, J; Curiati, MA; Ferreira da Mata, G; Ferrer, H; Martins, AM; Mastroianni Kirsztajn, G; Mendes, C; Moreira, SR; Moura, LA; Varela, P; Wallbach, K	1
Boof, ML; Dingemanse, J; Halabi, A; Ufer, M	1
Barth, JA; Castelli, JP; Hamazaki, T; Lagast, H; Narita, I; Ohashi, T; Sakai, N; Skuban, N	1
Andreotti, G; Bräuer, AU; Cimmaruta, C; Citro, V; Cozma, C; Cubellis, MV; Ernst, M; Fuellen, G; Giese, AK; Haake, LR; Hermann, A; Knospe, AM; Koczan, D; Lukas, J; Rolfs, A; Seemann, S; Struckmann, S	1
Bunschkowski, M; Cimmaruta, C; Cubellis, MV; Hermann, A; Hund, C; Iwanov, K; Liguori, L; Lukas, J; Pantoom, S; Petters, J; Rolfs, A	1
Hollak, CEM; Langeveld, M; van der Veen, SJ; van Kuilenburg, ABP	1
Chimenti, C; Feriozzi, S; Mignani, R; Nencini, P; Pieroni, M; Pieruzzi, F; Pisani, A	1
D'Alonzo, D; Dechecchi, MC; Esposito, A; Fenza, M; Gregorio, E; Guaragna, A; Lippi, G; Tamanini, A	1
Capuano, I; Cocozza, S; Feriozzi, S; Ferreri, L; Imbriaco, M; Pisani, A; Riccio, E; Santoro, C; Zanfardino, M	1
Enokida, H; Goto, N; Ido, A; Masutani, K; Minami, M; Mitsuke, A; Mizuma, E; Nakahara, M; Oda, Y; Tokunaga, K; Yamada, Y; Yoshimine, H	1
Aerts, JM; Auray-Blais, C; Bichet, DG; Krusinska, E; Maruyama, H; Mehta, AB; Schiffmann, R; Skuban, N	1
Braunstein, H; Horowitz, M; Lukas, J; Maor, G; Papazian, M; Rolfs, A	1
Darpo, B; Dingemanse, J; Mueller, MS; Sidharta, PN; Voors-Pette, C; Xue, H	1
Azevedo, O; Cunha, D; Gago, MF; Miltenberger-Miltenyi, G; Sousa, N	1
Arbustini, E; Barriales-Villa, R; Camporeale, A; Elliott, PM; Hagege, A; Kuusisto, J; Linhart, A; Moon, JC; Namdar, M; Nordbeck, P; Olivotto, I; Pieroni, M; Pietilä-Effati, P; Vujkovac, AC	1
Das, AM; Dungan, L; Garcia, A; Hamler, R; Johnson, FK; Khanna, R; Lun, Y; Martin, L; Perry, A; Schiffmann, R; Schmith, V; Shen, JS; Tsai, PC; Wu, YS	1
Arévalo-Gómez, A; Besada, P; Fernández-Martín, J; Gallardo-Gómez, M; Ortolano, S; Pantano, S; Patiño-Álvarez, L; Pérez-Márquez, T; Ruz-Zafra, A; Silva-López, C; Terán, C	1
Herrmann, K; Jovanovic, A; Vardarli, I; Weidemann, F	1
Blaschke, D; Brand, E; Brand, SM; Canaan-Kühl, S; Cybulla, M; Das, AM; Duning, T; Eveslage, M; Gaedeke, J; Hennermann, JB; Kampmann, C; Karabul, N; Kaufeld, J; Kurschat, C; Lenders, M; Liu, D; Mann, WA; Müntze, J; Muschol, N; Nordbeck, P; Patten, M; Pogoda, C; Reiermann, S; Sommer, C; Üçeyler, N; von Cossel, K	1
Bakola, E; Kokotis, P; Palaiodimou, L; Papadopoulou, M; Papagiannopoulou, G; Petras, D; Tsivgoulis, G; Vlachopoulos, C; Zompola, C; Zouvelou, V	1
Ivaturi, V; Johnson, FK; Leonowens, C; Schmith, V; Wu, YS; Zhou, J	1
An, G; Bach, T; Wu, N	1
Bichet, DG; Feldt-Rasmussen, U; Giugliani, R; Hopkin, RJ; Hughes, DA; Krusinska, E; Nicholls, K; Olivotto, I; Sakai, N; Skuban, N; Sunder-Plassmann, G; Torra, R; Wilcox, WR	1
Azevedo, O; Bento, D; Costa, H; Fernandes, RM; Jesus, I; Marques, N; Mota, T; Santo, ME; Silva, DC	1

Reviews

17 review(s) available for 1-deoxynojirimycin and migalastat

Article	Year
Pharmacological chaperones as therapeutics for lysosomal storage diseases. Journal of medicinal chemistry, 2013, Apr-11, Volume: 56, Issue:7 Topics: Cell Line; Glycolipids; Humans; Lysosomal Storage Diseases; Molecular Chaperones; Structure-Activity Relationship	2013
[Fabry's disease (alpha-galactosidase-A deficiency): recent therapeutic innovations]. Journal de la Societe de biologie, 2002, Volume: 196, Issue:2 Topics: 1-Deoxynojirimycin; Adenoviridae; alpha-Galactosidase; Analgesics; Animals; Antihypertensive Agents; Clinical Trials as Topic; Combined Modality Therapy; Disease Models, Animal; Enzyme Inhibitors; Fabry Disease; Genetic Therapy; Genetic Vectors; Humans; Kidney Diseases; Kidney Transplantation; Mice; Mice, Knockout; Recombinant Fusion Proteins; Renal Dialysis; Retroviridae; X Chromosome	2002
Chemical chaperones--a new concept in drug research. Chembiochem : a European journal of chemical biology, 2003, Apr-04, Volume: 4, Issue:4 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Animals; Enzyme Stability; Fabry Disease; Galactose; Gaucher Disease; Glycoside Hydrolases; Humans; Imino Sugars; Molecular Weight; Piperidines; Protein Conformation; Protein Folding	2003
Emerging strategies for the treatment of hereditary metabolic storage disorders. Rejuvenation research, 2006,Summer, Volume: 9, Issue:2 Topics: 1-Deoxynojirimycin; Bone Marrow Transplantation; Enzyme Inhibitors; Fabry Disease; Gangliosidosis, GM1; Gaucher Disease; Genetic Therapy; Humans; Imino Sugars; Piperidines	2006
Pharmacological chaperone therapy by active-site-specific chaperones in Fabry disease: in vitro and preclinical studies. International journal of clinical pharmacology and therapeutics, 2009, Volume: 47 Suppl 1 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Animals; Binding Sites; Enzyme Activators; Fabry Disease; Humans; Imino Sugars; Mice; Mice, Transgenic; Molecular Chaperones; Protein Folding	2009
Treatment of fabry disease: current and emerging strategies. Current pharmaceutical biotechnology, 2011, Volume: 12, Issue:6 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Animals; Enzyme Replacement Therapy; Fabry Disease; Genetic Therapy; Humans; Mutation, Missense	2011
The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations. International journal of molecular sciences, 2016, Dec-01, Volume: 17, Issue:12 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Fabry Disease; Humans; Molecular Chaperones; Mutation, Missense; Precision Medicine; Small Molecule Libraries	2016
Fabry Nephropathy: An Evidence-Based Narrative Review. Kidney & blood pressure research, 2018, Volume: 43, Issue:2 Topics: 1-Deoxynojirimycin; Enzyme Replacement Therapy; Fabry Disease; Female; Galactosidases; Humans; Kidney Diseases; Male; Trihexosylceramides	2018
Computational and modeling approaches to understand the impact of the Fabry's disease causing mutation (D92Y) on the interaction with pharmacological chaperone 1-deoxygalactonojirimycin (DGJ). Advances in protein chemistry and structural biology, 2019, Volume: 114 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Catalytic Domain; Fabry Disease; Humans; Models, Molecular; Molecular Chaperones; Mutation; Phenotype	2019
Migalastat: A Review in Fabry Disease. Drugs, 2019, Volume: 79, Issue:5 Topics: 1-Deoxynojirimycin; Adolescent; Adult; Aged; Aged, 80 and over; Dose-Response Relationship, Drug; Drug Approval; Enzyme Replacement Therapy; Fabry Disease; Female; Glycolipids; Humans; Male; Middle Aged; Mutation; Sphingolipids; Trihexosylceramides	2019
[Current status and future prospect of enzyme replacement therapy for Fabry disease]. Rinsho shinkeigaku = Clinical neurology, 2019, Jun-22, Volume: 59, Issue:6 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Animals; Chromosomes, Human, X; Drug Approval; Enzyme Replacement Therapy; Fabry Disease; Female; Globosides; Humans; Isoenzymes; Male; Mice; Molecular Chaperones; Mutation; Randomized Controlled Trials as Topic; Recombinant Proteins; Treatment Outcome	2019
Developments in the treatment of Fabry disease. Journal of inherited metabolic disease, 2020, Volume: 43, Issue:5 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Enzyme Replacement Therapy; Fabry Disease; Genetic Therapy; Humans; Molecular Chaperones; Mutation	2020
Synthesis and Therapeutic Applications of Iminosugars in Cystic Fibrosis. International journal of molecular sciences, 2020, May-09, Volume: 21, Issue:9 Topics: 1-Deoxynojirimycin; Anti-Inflammatory Agents; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Glycoside Hydrolases; Glycosyltransferases; Heterocyclic Compounds, 1-Ring; Humans; Imino Pyranoses; Inflammation; Molecular Structure; Mutation; Sequence Deletion; Tartrates	2020
Fabry Disease Therapy: State-of-the-Art and Current Challenges. International journal of molecular sciences, 2020, Dec-28, Volume: 22, Issue:1 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Enzyme Replacement Therapy; Fabry Disease; Humans; Isoenzymes; Recombinant Proteins	2020
Cardiac Involvement in Fabry Disease: JACC Review Topic of the Week. Journal of the American College of Cardiology, 2021, 02-23, Volume: 77, Issue:7 Topics: 1-Deoxynojirimycin; Electrocardiography; Enzyme Replacement Therapy; Fabry Disease; Heart; Heart Diseases; Humans	2021
Chaperone Therapy in Fabry Disease. International journal of molecular sciences, 2022, Feb-08, Volume: 23, Issue:3 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Fabry Disease; Humans; Male; Mutation; Time-to-Treatment; Trihexosylceramides	2022
Fabry Disease: Current and Novel Therapeutic Strategies. A Narrative Review. Current neuropharmacology, 2023, Volume: 21, Issue:3 Topics: 1-Deoxynojirimycin; Animals; Enzyme Replacement Therapy; Fabry Disease; Humans	2023

Trials

12 trial(s) available for 1-deoxynojirimycin and migalastat

Article	Year
A Phase 2 study of migalastat hydrochloride in females with Fabry disease: selection of population, safety and pharmacodynamic effects. Molecular genetics and metabolism, 2013, Volume: 109, Issue:1 Topics: 1-Deoxynojirimycin; Adult; alpha-Galactosidase; Enzyme Inhibitors; Epithelial Cells; Fabry Disease; Female; HEK293 Cells; Humans; Kidney; Middle Aged; Mutation; Skin; Transfection	2013
Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase. PloS one, 2015, Volume: 10, Issue:8 Topics: 1-Deoxynojirimycin; Administration, Oral; Adult; alpha-Galactosidase; Area Under Curve; Demography; Fabry Disease; Humans; Infusion Pumps; Isoenzymes; Male; Middle Aged; Recombinant Proteins; Skin	2015
An open-label study to determine the pharmacokinetics and safety of migalastat HCl in subjects with impaired renal function and healthy subjects with normal renal function. Clinical pharmacology in drug development, 2015, Volume: 4, Issue:4 Topics: 1-Deoxynojirimycin; Administration, Oral; Adolescent; Adult; Aged; Area Under Curve; Female; Glycoside Hydrolase Inhibitors; Half-Life; Humans; Kidney; Kidney Diseases; Male; Metabolic Clearance Rate; Middle Aged; Models, Biological; Severity of Illness Index; United States; Young Adult	2015
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat. The New England journal of medicine, 2016, Aug-11, Volume: 375, Issue:6 Topics: 1-Deoxynojirimycin; Adolescent; Adult; Aged; alpha-Galactosidase; Diarrhea; Double-Blind Method; Fabry Disease; Female; Glomerular Filtration Rate; Heart Ventricles; Humans; Hypertrophy, Left Ventricular; Kidney; Male; Middle Aged; Mutation; Trihexosylceramides; Ultrasonography; Young Adult	2016
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study. Journal of medical genetics, 2017, Volume: 54, Issue:4 Topics: 1-Deoxynojirimycin; Administration, Oral; Adolescent; Adult; Aged; alpha-Galactosidase; Enzyme Replacement Therapy; Fabry Disease; Female; Humans; Lysosomes; Male; Middle Aged; Molecular Chaperones; Treatment Outcome	2017
Lucerastat, an Iminosugar for Substrate Reduction Therapy: Pharmacokinetics, Tolerability, and Safety in Subjects With Mild, Moderate, and Severe Renal Function Impairment. Journal of clinical pharmacology, 2017, Volume: 57, Issue:11 Topics: 1-Deoxynojirimycin; Adult; Aged; Animals; Area Under Curve; Dogs; Female; Half-Life; Humans; Kidney; Male; Middle Aged; Prospective Studies; Rats; Renal Insufficiency; Young Adult	2017
Lucerastat, an Iminosugar for Substrate Reduction Therapy: Tolerability, Pharmacodynamics, and Pharmacokinetics in Patients With Fabry Disease on Enzyme Replacement. Clinical pharmacology and therapeutics, 2018, Volume: 103, Issue:4 Topics: 1-Deoxynojirimycin; Administration, Oral; Adult; alpha-Galactosidase; Drug Monitoring; Enzyme Inhibitors; Enzyme Replacement Therapy; Fabry Disease; Female; Glucosyltransferases; Humans; Male; Middle Aged; Treatment Outcome	2018
Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial. Orphanet journal of rare diseases, 2018, 04-27, Volume: 13, Issue:1 Topics: 1-Deoxynojirimycin; Adolescent; Adult; Aged; Biomarkers; Diarrhea; Fabry Disease; Female; Humans; Kidney; Male; Middle Aged; Mutation; Trihexosylceramides; Young Adult	2018
Safety of switching to Migalastat from enzyme replacement therapy in Fabry disease: Experience from the Phase 3 ATTRACT study. American journal of medical genetics. Part A, 2019, Volume: 179, Issue:6 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Drug Substitution; Enzyme Replacement Therapy; Fabry Disease; Female; Humans; Male	2019
Strong increase of leukocyte apha-galactosidase A activity in two male patients with Fabry disease following oral chaperone therapy. Molecular genetics & genomic medicine, 2019, Volume: 7, Issue:9 Topics: 1-Deoxynojirimycin; Administration, Oral; alpha-Galactosidase; Amino Acid Substitution; Fabry Disease; Humans; Leukocytes; Male; Mutation, Missense; Retrospective Studies	2019
Efficacy and safety of migalastat in a Japanese population: a subgroup analysis of the ATTRACT study. Clinical and experimental nephrology, 2020, Volume: 24, Issue:2 Topics: 1-Deoxynojirimycin; Administration, Oral; Adult; alpha-Galactosidase; Fabry Disease; Female; Genetic Predisposition to Disease; Humans; Japan; Male; Middle Aged; Mutation; Prospective Studies; Time Factors; Treatment Outcome	2020
The effect of the glucosylceramide synthase inhibitor lucerastat on cardiac repolarization: results from a thorough QT study in healthy subjects. Orphanet journal of rare diseases, 2020, 10-27, Volume: 15, Issue:1 Topics: 1-Deoxynojirimycin; Cross-Over Studies; Dose-Response Relationship, Drug; Double-Blind Method; Electrocardiography; Glucosyltransferases; Healthy Volunteers; Heart Rate; Humans	2020

Other Studies

97 other study(ies) available for 1-deoxynojirimycin and migalastat

Article	Year
Biological properties of D- and L-1-deoxyazasugars. Journal of medicinal chemistry, 2005, Mar-24, Volume: 48, Issue:6 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; alpha-L-Fucosidase; alpha-Mannosidase; Animals; beta-Galactosidase; beta-Glucosidase; beta-Mannosidase; Cattle; Enzyme Inhibitors; Glucan 1,4-alpha-Glucosidase; Humans; In Vitro Techniques; Lysosomes; Male; Molecular Mimicry; Rats; Species Specificity; Stereoisomerism; Structure-Activity Relationship	2005
Fluorescent glycosidase inhibiting 1,5-dideoxy-1,5-iminoalditols. Bioorganic & medicinal chemistry letters, 2006, Apr-15, Volume: 16, Issue:8 Topics: Alkylation; Enzyme Inhibitors; Fluorescent Dyes; Glucosidases; Imino Pyranoses; Models, Chemical; Piperidines; Sugar Alcohols	2006
Dual-action lipophilic iminosugar improves glycemic control in obese rodents by reduction of visceral glycosphingolipids and buffering of carbohydrate assimilation. Journal of medicinal chemistry, 2010, Jan-28, Volume: 53, Issue:2 Topics: Absorption; Animals; Blood Glucose; Carbohydrate Metabolism; Glycated Hemoglobin; Glycosphingolipids; Imino Sugars; Mice; Mice, Obese; Obesity; Rats; Rats, Zucker; Structure-Activity Relationship; Viscera	2010
Synthesis and biological evaluation of novel biotin-iminoalditol conjugates. Bioorganic & medicinal chemistry letters, 2010, Jul-15, Volume: 20, Issue:14 Topics: Biotin; Drug Evaluation, Preclinical; Molecular Probes; Sugar Alcohols	2010
(5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B. European journal of medicinal chemistry, 2017, Jan-27, Volume: 126 Topics: beta-Galactosidase; Drug Design; Enzyme Inhibitors; Fibroblasts; Gangliosidosis, GM1; Hot Temperature; Humans; Hydrogen-Ion Concentration; Imino Pyranoses; Lysosomes; Mucopolysaccharidosis IV; Mutation; Protein Denaturation	2017
Arylsulfonyl histamine derivatives as powerful and selective α-glucosidase inhibitors. RSC medicinal chemistry, 2020, Apr-01, Volume: 11, Issue:4 Topics:	2020
Evidence that N-linked glycosylation is necessary for hepatitis B virus secretion. Virology, 1995, Nov-10, Volume: 213, Issue:2 Topics: 1-Deoxynojirimycin; alpha-Glucosidases; Base Sequence; DNA Primers; Enzyme Inhibitors; Glycoside Hydrolase Inhibitors; Glycosylation; Hepatitis B Surface Antigens; Hepatitis B virus; Humans; Molecular Sequence Data; Tumor Cells, Cultured; Tunicamycin; Viral Envelope Proteins; Virion	1995
N-butyldeoxygalactonojirimycin inhibits glycolipid biosynthesis but does not affect N-linked oligosaccharide processing. The Journal of biological chemistry, 1994, Oct-28, Volume: 269, Issue:43 Topics: 1-Deoxynojirimycin; alpha-Glucosidases; Animals; Cells, Cultured; Disease Models, Animal; Gaucher Disease; Glucosylceramidase; Glucosyltransferases; Glycolipids; Humans; Mice; Oligosaccharides; Structure-Activity Relationship	1994
Inhibition of glycosphingolipid biosynthesis does not impair growth or morphogenesis of the postimplantation mouse embryo. Journal of neurochemistry, 1998, Volume: 70, Issue:2 Topics: 1-Deoxynojirimycin; Animals; Cell Division; Embryo, Mammalian; Embryonic and Fetal Development; Embryonic Development; Female; Galactosylceramides; Gangliosides; Glycosphingolipids; Mice; Mice, Inbred C3H; Morphogenesis; Pregnancy; Yolk Sac	1998
Application of exogenous ceramide to cultured rat spinal motoneurons promotes survival or death by regulation of apoptosis depending on its concentrations. Journal of neuroscience research, 1998, Nov-15, Volume: 54, Issue:4 Topics: 1-Deoxynojirimycin; Animals; Apoptosis; Axons; Cell Nucleus; Cell Size; Cell Survival; Cells, Cultured; Ceramides; Chromatin; Chromatography, Thin Layer; Dose-Response Relationship, Drug; Glucosylceramides; Motor Neurons; Rats; Sphingolipids; Sphingomyelin Phosphodiesterase; Spinal Cord; Stereoisomerism; Time Factors	1998
Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor. Nature medicine, 1999, Volume: 5, Issue:1 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Animals; Biological Transport; Cells, Cultured; Enzyme Inhibitors; Fabry Disease; Glycosphingolipids; Humans; Hydrogen-Ion Concentration; Lysosomes; Mice; Mice, Transgenic	1999
N-butyldeoxygalactonojirimycin: a more selective inhibitor of glycosphingolipid biosynthesis than N-butyldeoxynojirimycin, in vitro and in vivo. Biochemical pharmacology, 2000, Apr-01, Volume: 59, Issue:7 Topics: 1-Deoxynojirimycin; Animals; Carbon Radioisotopes; Cell Division; Disaccharidases; Enzyme Inhibitors; Female; Glycogen; Glycosphingolipids; Humans; Liver; Lymphocytes; Mice; Mice, Inbred C57BL; Tissue Distribution	2000
In vitro inhibition and intracellular enhancement of lysosomal alpha-galactosidase A activity in Fabry lymphoblasts by 1-deoxygalactonojirimycin and its derivatives. European journal of biochemistry, 2000, Volume: 267, Issue:13 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Enzyme Inhibitors; Fabry Disease; Glycoside Hydrolases; Humans; Lymphocytes; Lysosomes	2000
Carbohydrate receptor depletion as an antimicrobial strategy for prevention of urinary tract infection. The Journal of infectious diseases, 2001, Mar-01, Volume: 183 Suppl 1 Topics: 1-Deoxynojirimycin; Bacterial Adhesion; Escherichia coli; Escherichia coli Infections; Fimbriae, Bacterial; Glycolipids; Glycosphingolipids; Humans; Inflammation; Urinary Tract Infections	2001
Galactonojirimycin derivatives restore mutant human beta-galactosidase activities expressed in fibroblasts from enzyme-deficient knockout mouse. Brain & development, 2001, Volume: 23, Issue:5 Topics: 1-Deoxynojirimycin; Animals; beta-Galactosidase; Cells, Cultured; DNA, Complementary; Fibroblasts; Gangliosidosis, GM1; Humans; Mice; Mice, Knockout; Mucopolysaccharidosis IV; Mutation	2001
Intestinal uptake of quercetin-3-glucoside in rats involves hydrolysis by lactase phlorizin hydrolase. The Journal of nutrition, 2003, Volume: 133, Issue:3 Topics: 1-Deoxynojirimycin; Animals; Chromatography, High Pressure Liquid; Enzyme Inhibitors; Flavonols; Hydrolysis; Ileum; Intestines; Jejunum; Lactase-Phlorizin Hydrolase; Male; Microvilli; Quercetin; Rats; Rats, Wistar	2003
Accumulation of glycosphingolipids in Niemann-Pick C disease disrupts endosomal transport. The Journal of biological chemistry, 2004, Jun-18, Volume: 279, Issue:25 Topics: 1-Deoxynojirimycin; Androstenes; Animals; Antigens, CD; Biological Transport; Boron Compounds; Brain; Cell Line; Centrifugation, Density Gradient; CHO Cells; Cholesterol; Chromatography, High Pressure Liquid; Cricetinae; Detergents; Endosomes; Enzyme Inhibitors; Glucosyltransferases; Glycosphingolipids; Golgi Apparatus; Lactosylceramides; Mass Spectrometry; Membrane Microdomains; Mice; Mice, Transgenic; Models, Biological; Niemann-Pick Diseases; Octoxynol; Phenotype; Progesterone; Sucrose; Ultracentrifugation	2004
N-butyldeoxygalactonojirimycin reduces neonatal brain ganglioside content in a mouse model of GM1 gangliosidosis. Journal of neurochemistry, 2004, Volume: 89, Issue:3 Topics: 1-Deoxynojirimycin; Animals; Animals, Newborn; Body Weight; Brain; Brain Chemistry; Chromatography, Thin Layer; Disease Models, Animal; Fetal Viability; Gangliosides; Gangliosidosis, GM1; Lipid Metabolism; Lipids; Mice; Mice, Inbred C57BL; Mice, Knockout; Treatment Outcome	2004
Improved outcome of N-butyldeoxygalactonojirimycin-mediated substrate reduction therapy in a mouse model of Sandhoff disease. Neurobiology of disease, 2004, Volume: 16, Issue:3 Topics: 1-Deoxynojirimycin; Animals; Behavior, Animal; beta-N-Acetylhexosaminidases; Body Weight; Brain; Disease Models, Animal; Female; Gangliosides; Life Expectancy; Liver; Male; Mice; Mice, Mutant Strains; Sandhoff Disease	2004
NSAIDs increase survival in the Sandhoff disease mouse: synergy with N-butyldeoxynojirimycin. Annals of neurology, 2004, Volume: 56, Issue:5 Topics: 1-Deoxynojirimycin; Age Factors; Animals; Anti-Inflammatory Agents, Non-Steroidal; Anti-Obesity Agents; Behavior, Animal; Blotting, Western; Brain; Cyclooxygenase 2; Dinoprostone; Disease Models, Animal; Drug Synergism; Enzyme Inhibitors; Enzyme-Linked Immunosorbent Assay; Glutathione; Histocompatibility Antigens Class II; Immunohistochemistry; Isoenzymes; Lipid Peroxidation; Mice; Nitric Oxide Synthase; Nitric Oxide Synthase Type II; Prostaglandin-Endoperoxide Synthases; Psychomotor Performance; Sandhoff Disease; Spinal Cord; Survival Rate; Time Factors; Vitamin A	2004
Alkylated imino sugars, reversible male infertility-inducing agents, do not affect the genetic integrity of male mouse germ cells during short-term treatment despite induction of sperm deformities. Biology of reproduction, 2005, Volume: 72, Issue:4 Topics: 1-Deoxynojirimycin; Alkylation; Animals; Carbohydrates; Contraceptive Agents, Male; Disulfides; Female; Fertility; Fertilization in Vitro; Imines; Infertility, Male; Male; Mice; Mice, Inbred C57BL; Mice, Inbred DBA; Pregnancy; Pregnancy Outcome; Protamines; Spermatozoa; Sphingolipids	2005
A synthetic chaperone corrects the trafficking defect and disease phenotype in a protein misfolding disorder. FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 2005, Volume: 19, Issue:1 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Amino Acid Substitution; Animals; Arginine; Cells, Cultured; Fabry Disease; Fibroblasts; Glutamine; Humans; Lysosomes; Mice; Mice, Transgenic; Molecular Chaperones; Mutation; Phenotype; Protein Binding; Protein Folding; Protein Transport; Trihexosylceramides	2005
Substrate reduction reduces gangliosides in postnatal cerebrum-brainstem and cerebellum in GM1 gangliosidosis mice. Journal of lipid research, 2005, Volume: 46, Issue:4 Topics: 1-Deoxynojirimycin; Animals; Animals, Newborn; Brain Stem; Cerebellum; Chromatography, Thin Layer; Gangliosides; Gangliosidosis, GM1; Mice; Mice, Inbred C57BL; Mice, Knockout; Oxidation-Reduction; Sphingomyelins; Substrate Specificity	2005
The association of Shiga-like toxin with detergent-resistant membranes is modulated by glucosylceramide and is an essential requirement in the endoplasmic reticulum for a cytotoxic effect. Molecular biology of the cell, 2006, Volume: 17, Issue:3 Topics: 1-Deoxynojirimycin; Animals; Cell Death; Cell Line, Tumor; Cell Membrane; Chlorocebus aethiops; Detergents; Endoplasmic Reticulum; Glucosylceramides; Glycosphingolipids; HeLa Cells; Humans; Intracellular Membranes; Proteasome Inhibitors; Protein Transport; Shiga Toxin 1; Trihexosylceramides; Vero Cells	2006
Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants. American journal of physiology. Cell physiology, 2006, Volume: 290, Issue:4 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Cells, Cultured; DNA Mutational Analysis; Enzyme Stability; Fabry Disease; Fibroblasts; Gene Expression; Humans; Imino Sugars; Lysosomes; Male; Molecular Chaperones; Piperidines; Protein Transport; RNA Interference	2006
Stem cells act through multiple mechanisms to benefit mice with neurodegenerative metabolic disease. Nature medicine, 2007, Volume: 13, Issue:4 Topics: 1-Deoxynojirimycin; Animals; beta-N-Acetylhexosaminidases; Brain; Embryonic Stem Cells; Humans; Immunohistochemistry; Mice; Mice, Knockout; Microglia; Neurons; Patch-Clamp Techniques; Sandhoff Disease; Stem Cell Transplantation	2007
Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin. The Biochemical journal, 2007, Sep-01, Volume: 406, Issue:2 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Animals; Binding Sites; Cell Communication; Cells, Cultured; Chlorocebus aethiops; Enzyme Stability; Fabry Disease; Gene Expression Regulation, Enzymologic; Humans; Hydrogen-Ion Concentration; Kinetics; Models, Molecular; Mutation; Protein Structure, Tertiary; Protein Transport	2007
Accumulation of glucosylceramide in murine testis, caused by inhibition of beta-glucosidase 2: implications for spermatogenesis. The Journal of biological chemistry, 2007, Nov-09, Volume: 282, Issue:45 Topics: 1-Deoxynojirimycin; Animals; beta-Glucosidase; Enzyme Inhibitors; Glucosylceramides; Imino Sugars; Kinetics; Male; Mice; Spermatogenesis; Sphingolipids; Testis	2007
N-butyldeoxygalactonojirimycin reduces brain ganglioside and GM2 content in neonatal Sandhoff disease mice. Neurochemistry international, 2008, Volume: 52, Issue:6 Topics: 1-Deoxynojirimycin; Animals; Animals, Newborn; beta-Hexosaminidase alpha Chain; Brain; Brain Chemistry; Disease Models, Animal; Down-Regulation; G(M2) Ganglioside; Gangliosides; Glycosphingolipids; Mice; Mice, Knockout; Nerve Degeneration; Neuraminidase; Sandhoff Disease; Treatment Outcome	2008
Beneficial effects of substrate reduction therapy in a mouse model of GM1 gangliosidosis. Molecular genetics and metabolism, 2008, Volume: 94, Issue:2 Topics: 1-Deoxynojirimycin; Animals; beta-Galactosidase; Brain; Disease Models, Animal; Enzyme Inhibitors; Feces; Gangliosidosis, GM1; Glucosyltransferases; Glycosphingolipids; Humans; Macrophage Activation; Mice; Mice, Knockout; Motor Activity; Protein Transport	2008
Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone. Pharmacogenetics and genomics, 2008, Volume: 18, Issue:9 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Blotting, Western; Cells, Cultured; Fabry Disease; Female; Humans; Male; Mutation; Protein Conformation; T-Lymphocytes	2008
Preclinical efficacy and safety of 1-deoxygalactonojirimycin in mice for Fabry disease. The Journal of pharmacology and experimental therapeutics, 2009, Volume: 328, Issue:3 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Animals; Disease Models, Animal; Enzyme Inhibitors; Fabry Disease; Glycosphingolipids; Humans; Kinetics; Mice; Mice, Transgenic; Models, Molecular; Protein Folding; Tissue Distribution	2009
Molecular interaction of imino sugars with human alpha-galactosidase: Insight into the mechanism of complex formation and pharmacological chaperone action in Fabry disease. Molecular genetics and metabolism, 2009, Volume: 96, Issue:4 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Animals; Catalytic Domain; Cells, Cultured; CHO Cells; Cricetinae; Cricetulus; Fabry Disease; Fibroblasts; Galactosamine; Humans; Imino Sugars; Kinetics; Models, Molecular; Thermodynamics	2009
Glucosylceramide synthase inhibitors sensitise CLL cells to cytotoxic agents without reversing P-gp functional activity. European journal of pharmacology, 2009, May-01, Volume: 609, Issue:1-3 Topics: 1-Deoxynojirimycin; Aged; Aged, 80 and over; ATP Binding Cassette Transporter, Subfamily B, Member 1; B-Lymphocytes; Cell Line, Tumor; Chlorambucil; Cytotoxins; Enzyme Inhibitors; Female; Fluoresceins; Fluorescent Dyes; Formazans; Glucosyltransferases; Humans; Inhibitory Concentration 50; Leukemia, Lymphocytic, Chronic, B-Cell; Male; Middle Aged; Models, Chemical; Molecular Structure; Tetrazolium Salts; Vidarabine	2009
Raffinose and stachyose metabolism are not required for efficient soybean seed germination. Journal of plant physiology, 2009, Aug-15, Volume: 166, Issue:12 Topics: 1-Deoxynojirimycin; Germination; Glycine max; Oligosaccharides; Raffinose; Seeds; Water	2009
Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease. Experimental & molecular medicine, 2009, Jan-31, Volume: 41, Issue:1 Topics: 1-Deoxynojirimycin; Adolescent; Adult; alpha-Galactosidase; Animals; Asian People; Chlorocebus aethiops; COS Cells; Fabry Disease; Gene Expression; Humans; Male; Middle Aged; Mutation; Young Adult	2009
The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines. Journal of inherited metabolic disease, 2009, Volume: 32, Issue:3 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Cell Line; Drug Evaluation, Preclinical; Enzyme Activation; Fabry Disease; Fibroblasts; Half-Life; Humans; Lymphocytes; Male; Models, Molecular; Molecular Chaperones; Mutation, Missense; Up-Regulation	2009
Synthesis and characterization of a new fluorogenic substrate for alpha-galactosidase. Analytical and bioanalytical chemistry, 2009, Volume: 394, Issue:7 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Chromatography, Thin Layer; Fluorescence; Fluorescent Dyes; Galactosides; Hydrogen-Ion Concentration; Kinetics; Oxazines; Sensitivity and Specificity	2009
The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease. Molecular therapy : the journal of the American Society of Gene Therapy, 2010, Volume: 18, Issue:1 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Animals; Blotting, Western; Disease Models, Animal; Fabry Disease; Humans; Immunohistochemistry; Mice; Mice, Inbred C57BL; Mice, Knockout; Mice, Transgenic; Trihexosylceramides	2010
Short and straightforward synthesis of (-)-1-deoxygalactonojirimycin. Organic letters, 2010, Mar-19, Volume: 12, Issue:6 Topics: 1-Deoxynojirimycin; Glycoside Hydrolases; Molecular Structure; Stereoisomerism	2010
Lysosomal storage of oligosaccharide and glycosphingolipid in imino sugar treated cells. Glycoconjugate journal, 2010, Volume: 27, Issue:3 Topics: 1-Deoxynojirimycin; Animals; Apoptosis; beta-N-Acetylhexosaminidases; Cell Line; Chromatography, High Pressure Liquid; Enzyme Activation; Gangliosidoses; Glycosphingolipids; Imino Sugars; Kinetics; Lysosomes; Mass Spectrometry; Mice; Oligosaccharides	2010
Restricted ketogenic diet enhances the therapeutic action of N-butyldeoxynojirimycin towards brain GM2 accumulation in adult Sandhoff disease mice. Journal of neurochemistry, 2010, Volume: 113, Issue:6 Topics: 1-Deoxynojirimycin; 3-Hydroxybutyric Acid; Analysis of Variance; Animals; beta-N-Acetylhexosaminidases; Blood Glucose; Body Weight; Brain; Chromatography, High Pressure Liquid; Chromatography, Thin Layer; Diet, Ketogenic; Eating; G(M2) Ganglioside; Lipid Metabolism; Mice; Mice, Knockout; Myelin Sheath; Purkinje Cells; Sandhoff Disease	2010
Novel method for chase analysis of oligosaccharide metabolic error caused by xenobiotics. Analytical biochemistry, 2010, Oct-01, Volume: 405, Issue:1 Topics: 1-Deoxynojirimycin; Brefeldin A; Cell Line, Tumor; Chromatography, Thin Layer; Fucose; Gangliosides; Glycosylation; Humans; Indolizines; Oligosaccharides; Tunicamycin; Xenobiotics	2010
Synthesis of L-altro-1-deoxynojirimycin, D-allo-1-deoxynojirimycin, and D-galacto-1-deoxynojirimycin from a single chiral cyanohydrin. Organic letters, 2010, Sep-03, Volume: 12, Issue:17 Topics: 1-Deoxynojirimycin; Aldehyde-Lyases; Cyclization; Molecular Structure; Nitriles; Prunus; Stereoisomerism	2010
Increased globotriaosylceramide levels in a transgenic mouse expressing human alpha1,4-galactosyltransferase and a mouse model for treating Fabry disease. Journal of biochemistry, 2011, Volume: 149, Issue:2 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Animals; Crosses, Genetic; Disease Models, Animal; Enzyme Activation; Fabry Disease; Female; Galactosyltransferases; Humans; Kidney; Liver; Mice; Mice, Knockout; Mice, Transgenic; Molecular Chaperones; Spleen; Trihexosylceramides; Up-Regulation	2011
A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease. Human mutation, 2011, Volume: 32, Issue:8 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Biological Assay; Enzyme Activation; Fabry Disease; Gene Expression Regulation; HEK293 Cells; Humans; Leukocytes, Mononuclear; Male; Mutant Proteins; Point Mutation; Protein Conformation	2011
Murine β-galactosidase stability is not dependent on temperature or protective protein/cathepsin A. Molecular genetics and metabolism, 2011, Volume: 104, Issue:4 Topics: 1-Deoxynojirimycin; Animals; beta-Galactosidase; Cathepsin A; Cell Extracts; Cells, Cultured; Enzyme Activators; Enzyme Assays; Enzyme Stability; Humans; Mice; Protein Engineering; Recombinant Fusion Proteins	2011
Crystal structure of human β-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases. The Journal of biological chemistry, 2012, Jan-13, Volume: 287, Issue:3 Topics: 1-Deoxynojirimycin; beta-Galactosidase; Crystallography, X-Ray; G(M1) Ganglioside; Galactose; Gangliosidosis, GM1; Humans; Hydrolysis; Keratan Sulfate; Lysosomes; Models, Molecular; Mucopolysaccharidosis IV; Mutation; Protein Structure, Tertiary	2012
Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease. Journal of inherited metabolic disease, 2012, Volume: 35, Issue:3 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Case-Control Studies; Exons; Fabry Disease; Fibroblasts; Genotype; Humans; Lysosomes; Male; Microscopy, Confocal; Microscopy, Fluorescence; Mutation; Recombinant Proteins; Trihexosylceramides	2012
The molecular basis of pharmacological chaperoning in human α-galactosidase. Chemistry & biology, 2011, Dec-23, Volume: 18, Issue:12 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Binding Sites; Crystallography, X-Ray; Fabry Disease; Galactose; Humans; Hydrogen-Ion Concentration; Mutagenesis, Site-Directed; Phase Transition; Protein Structure, Tertiary; Protein Unfolding; Transition Temperature	2011
Pharmacological chaperone therapy for Fabry disease. Proceedings of the Japan Academy. Series B, Physical and biological sciences, 2012, Volume: 88, Issue:1 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Animals; Clinical Trials as Topic; Disease Models, Animal; Fabry Disease; Female; Humans; Immunohistochemistry; Male; Mice; Mutant Proteins; Mutation; Protein Folding	2012
Therapeutic effects of stem cells and substrate reduction in juvenile Sandhoff mice. Neurochemical research, 2012, Volume: 37, Issue:6 Topics: 1-Deoxynojirimycin; Animals; beta-N-Acetylhexosaminidases; G(M2) Ganglioside; Hexosaminidase B; Mice; Neural Stem Cells; Sandhoff Disease	2012
α-Galactosidase aggregation is a determinant of pharmacological chaperone efficacy on Fabry disease mutants. The Journal of biological chemistry, 2012, Aug-17, Volume: 287, Issue:34 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Enzyme Activation; Fabry Disease; Fibroblasts; Gene Expression Regulation; HeLa Cells; Humans; Molecular Chaperones; Mutation, Missense	2012
A bicyclic 1-deoxygalactonojirimycin derivative as a novel pharmacological chaperone for GM1 gangliosidosis. Molecular therapy : the journal of the American Society of Gene Therapy, 2013, Volume: 21, Issue:3 Topics: 1-Deoxynojirimycin; Administration, Oral; Animals; beta-Galactosidase; Bridged Bicyclo Compounds, Heterocyclic; Cells, Cultured; Computational Biology; Disease Models, Animal; Enzyme Inhibitors; Fibroblasts; Gangliosidosis, GM1; Imino Sugars; Lysosomes; Mice; Mice, Inbred C57BL; Mice, Knockout; Molecular Chaperones; Mucopolysaccharidosis IV; Mutation; Recombination, Genetic	2013
Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients. PloS one, 2013, Volume: 8, Issue:3 Topics: 1-Deoxynojirimycin; Administration, Oral; alpha-Galactosidase; Animals; Fabry Disease; Glycolipids; Humans; Male; Mice; Mice, Inbred C57BL; Mice, Knockout; Mutation; Reproducibility of Results; Sphingolipids; Sphingosine; Trihexosylceramides	2013
β-Glucosidase 2 (GBA2) activity and imino sugar pharmacology. The Journal of biological chemistry, 2013, Sep-06, Volume: 288, Issue:36 Topics: 1-Deoxynojirimycin; Animals; beta-Glucosidase; Cell Line, Tumor; Cerebellar Ataxia; Chlorocebus aethiops; COS Cells; Enzyme Inhibitors; Glucosylceramidase; Humans; Hydrogen-Ion Concentration; Inositol; Mice; Spastic Paraplegia, Hereditary	2013
Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones. Orphanet journal of rare diseases, 2013, Jul-24, Volume: 8 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Databases, Pharmaceutical; Fabry Disease; Humans; Internet; Molecular Chaperones; Mutation; Treatment Outcome	2013
Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease. PLoS genetics, 2013, Volume: 9, Issue:8 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Amino Acid Substitution; Fabry Disease; Glycolipids; Humans; Mutation; Phenotype; Protein Transport; Sphingolipids	2013
Applications and limitations of the I2-mediated carbamate annulation for the synthesis of piperidines: five- versus six-membered ring formation. The Journal of organic chemistry, 2013, Oct-04, Volume: 78, Issue:19 Topics: 1-Deoxynojirimycin; Carbamates; Cyclization; Fucose; Imino Pyranoses; Molecular Structure; Piperidines; Stereoisomerism	2013
Candidate molecules for chemical chaperone therapy of GM1-gangliosidosis. Future medicinal chemistry, 2013, Volume: 5, Issue:13 Topics: 1-Deoxynojirimycin; Animals; beta-Galactosidase; Gangliosidosis, GM1; Genotype; Hexosamines; Humans; Lysosomes; Mutation; Small Molecule Libraries	2013
Molecular basis of 1-deoxygalactonojirimycin arylthiourea binding to human α-galactosidase a: pharmacological chaperoning efficacy on Fabry disease mutants. ACS chemical biology, 2014, Jul-18, Volume: 9, Issue:7 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Animals; Autophagy; Chlorocebus aethiops; COS Cells; Crystallography, X-Ray; Enzyme Stability; Fabry Disease; Fibroblasts; Humans; Molecular Docking Simulation; Mutation; Protein Transport; Thiourea; Trihexosylceramides	2014
Enzyme enhancers for the treatment of Fabry and Pompe disease. Molecular therapy : the journal of the American Society of Gene Therapy, 2015, Volume: 23, Issue:3 Topics: 1-Deoxynojirimycin; Acetylcysteine; alpha-Galactosidase; alpha-Glucosidases; Ambroxol; Bezafibrate; Enzyme Activators; Fabry Disease; Gene Expression; Glycogen Storage Disease Type II; HEK293 Cells; Humans; Leupeptins; Lysosomes; Pioglitazone; Plasmids; Proteasome Endopeptidase Complex; Proteasome Inhibitors; Protein Stability; Recombinant Proteins; Thiazolidinediones; Transfection	2015
Looking for protein stabilizing drugs with thermal shift assay. Drug testing and analysis, 2015, Volume: 7, Issue:9 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Drug Evaluation, Preclinical; Enzyme Stability; Fabry Disease; Glycogen Storage Disease Type II; High-Throughput Screening Assays; Humans; Temperature	2015
Diastereoselective Synthesis of 1-Deoxygalactonojirimycin, 1-Deoxyaltronojirimycin, and N-Boc-(2S,3S)-3-Hydroxypipecolic Acid via Proline Catalyzed α-Aminoxylation of Aldehydes. The Journal of organic chemistry, 2015, May-01, Volume: 80, Issue:9 Topics: 1-Deoxynojirimycin; Aldehydes; Catalysis; Molecular Conformation; Pipecolic Acids; Proline; Stereoisomerism	2015
Migalastat: First Global Approval. Drugs, 2016, Volume: 76, Issue:11 Topics: 1-Deoxynojirimycin; Drug Approval; European Union; Fabry Disease; Humans; Patents as Topic	2016
Overcoming the Next Barriers to Successful Therapy. Pediatric endocrinology reviews : PER, 2016, Volume: 13 Suppl 1 Topics: 1-Deoxynojirimycin; Administration, Oral; Cellulose; Daucus carota; Drug Delivery Systems; Drug Discovery; Enzyme Inhibitors; Enzyme Replacement Therapy; Fabry Disease; Gaucher Disease; Humans; Lysosomal Storage Diseases; Mucolipidoses; Pyrrolidines; Rare Diseases	2016
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat. Genetics in medicine : official journal of the American College of Medical Genetics, 2017, Volume: 19, Issue:4 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Biological Assay; Cell Line; Clinical Trials, Phase II as Topic; Clinical Trials, Phase III as Topic; Fabry Disease; Female; HEK293 Cells; Humans; Leukocytes; Male; Mutation; Predictive Value of Tests; Validation Studies as Topic	2017
Fabry disease: A pharmacological chaperone on the horizon. Nature reviews. Nephrology, 2016, Volume: 12, Issue:11 Topics: 1-Deoxynojirimycin; Fabry Disease; Humans; Molecular Chaperones	2016
Ligand-promoted protein folding by biased kinetic partitioning. Nature chemical biology, 2017, Volume: 13, Issue:4 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Escherichia coli; HEK293 Cells; Humans; Kinetics; Ligands; Models, Molecular; Molecular Chaperones; Protein Aggregates; Protein Folding; Proteolysis; Reproducibility of Results; Tetrahydrofolate Dehydrogenase; Trimethoprim	2017
Reduction of podocyte globotriaosylceramide content in adult male patients with Fabry disease with amenable Journal of medical genetics, 2017, Volume: 54, Issue:11 Topics: 1-Deoxynojirimycin; Adult; alpha-Galactosidase; Enzyme Inhibitors; Fabry Disease; Humans; Male; Middle Aged; Podocytes; Treatment Outcome; Trihexosylceramides	2017
Treatment of hypertrophic cardiomyopathy caused by cardiospecific variants of Fabry disease with chaperone therapy. European heart journal, 2018, 05-21, Volume: 39, Issue:20 Topics: 1-Deoxynojirimycin; Cardiomyopathy, Hypertrophic; Echocardiography; Electrocardiography; Fabry Disease; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Molecular Chaperones	2018
Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types. Human molecular genetics, 2018, 10-01, Volume: 27, Issue:19 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Cell Line; Fabry Disease; Female; Fibroblasts; Genotype; Glucosyltransferases; Humans; Kidney; Lysosomes; Male; Mutation; Trihexosylceramides	2018
FDA approves Galafold, a triumph for Amicus. Nature biotechnology, 2018, 10-11, Volume: 36, Issue:10 Topics: 1-Deoxynojirimycin; Biotechnology; Drug Approval; Fabry Disease; Humans; United States; United States Food and Drug Administration	2018
Identification of a novel loss-of-function mutation of the GLA gene in a Chinese Han family with Fabry disease. BMC medical genetics, 2018, 12-27, Volume: 19, Issue:1 Topics: 1-Deoxynojirimycin; Adult; Aged; alpha-Galactosidase; Asian People; Base Sequence; Child; Exons; Fabry Disease; Female; Gene Expression; Glycolipids; HEK293 Cells; Humans; Hypertrophy, Left Ventricular; Kidney Failure, Chronic; Loss of Function Mutation; Male; Middle Aged; Pedigree; Phenotype	2018
Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease. Journal of human genetics, 2019, Volume: 64, Issue:7 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Fabry Disease; Female; Frameshift Mutation; Humans; Japan; Male; Mutation; Mutation, Missense; Sequence Deletion	2019
Mutation-specific Fabry disease patient-derived cell model to evaluate the amenability to chaperone therapy. Journal of medical genetics, 2019, Volume: 56, Issue:8 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Cell- and Tissue-Based Therapy; Enzyme Replacement Therapy; Fabry Disease; Gene Editing; HEK293 Cells; Humans; Molecular Chaperones; Precision Medicine; Trihexosylceramides	2019
Inter-assay variability influences migalastat amenability assessments among Fabry disease variants. Molecular genetics and metabolism, 2019, Volume: 127, Issue:1 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Biological Assay; Fabry Disease; Genetic Variation; HEK293 Cells; Humans; Mutation; Reproducibility of Results	2019
Response to "Oral Chaperone Therapy Migalastat for the Treatment of Fabry Disease: Potentials and Pitfalls of Real-World Data". Clinical pharmacology and therapeutics, 2019, Volume: 106, Issue:5 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Biomarkers; Fabry Disease; Humans	2019
Oral Chaperone Therapy Migalastat for the Treatment of Fabry Disease: Potentials and Pitfalls of Real-World Data. Clinical pharmacology and therapeutics, 2019, Volume: 106, Issue:5 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Biomarkers; Fabry Disease; Humans	2019
[The Fabry nephropathy: new insight in diagnosis, monitoring and treatment]. Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia, 2019, Jul-24, Volume: 36, Issue:4 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Disease Progression; Enzyme Replacement Therapy; Fabry Disease; Female; Glomerulosclerosis, Focal Segmental; Glycolipids; Heterozygote; Humans; Isoenzymes; Kidney Diseases; Male; Oxidative Stress; Podocytes; Recombinant Proteins; Sex Factors; Sphingolipids; Trihexosylceramides	2019
Fabry disease genotype, phenotype, and migalastat amenability: Insights from a national cohort. Journal of inherited metabolic disease, 2020, Volume: 43, Issue:2 Topics: 1-Deoxynojirimycin; Adolescent; Adult; Aged; Aged, 80 and over; alpha-Galactosidase; Biological Assay; Fabry Disease; Female; Genetic Variation; Genotype; HEK293 Cells; Humans; Male; Middle Aged; Mutation; Phenotype; Prospective Studies; Switzerland; Young Adult	2020
Functional Characterization and Pharmacological Evaluation of a Novel GLA Missense Mutation Found in a Severely Affected Fabry Disease Family. Nephron, 2020, Volume: 144, Issue:3 Topics: 1-Deoxynojirimycin; Adolescent; Adult; alpha-Galactosidase; Fabry Disease; Female; HeLa Cells; Humans; Male; Mutation, Missense	2020
Impact of the organic cation transporter 2 inhibitor cimetidine on the single-dose pharmacokinetics of the glucosylceramide synthase inhibitor lucerastat in healthy subjects. European journal of clinical pharmacology, 2020, Volume: 76, Issue:3 Topics: 1-Deoxynojirimycin; Administration, Oral; Adult; Area Under Curve; Cimetidine; Glucosyltransferases; Healthy Volunteers; Humans; Kidney; Male; Organic Cation Transporter 2; Young Adult	2020
Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypes in Fabry disease. The Biochemical journal, 2020, 01-31, Volume: 477, Issue:2 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Biomarkers; Endoplasmic Reticulum; Fabry Disease; Fibroblasts; Gene Expression Regulation, Enzymologic; Humans; Lysosomal Storage Diseases; Lysosomes; Mutation, Missense; Proteasome Endopeptidase Complex; Protein Transport; Proteostasis; Sphingosine	2020
Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease. International journal of molecular sciences, 2020, Jan-31, Volume: 21, Issue:3 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Amino Acid Substitution; Biological Assay; Fabry Disease; HEK293 Cells; Humans; Precision Medicine; Reproducibility of Results; Retrospective Studies	2020
The GALA project: practical recommendations for the use of migalastat in clinical practice on the basis of a structured survey among Italian experts. Orphanet journal of rare diseases, 2020, 04-07, Volume: 15, Issue:1 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Fabry Disease; Humans; Italy; Quality of Life	2020
Switch from enzyme replacement therapy to oral chaperone migalastat for treating fabry disease: real-life data. European journal of human genetics : EJHG, 2020, Volume: 28, Issue:12 Topics: 1-Deoxynojirimycin; Administration, Oral; Adolescent; Adult; Aged; alpha-Galactosidase; Drug Administration Schedule; Drug Tolerance; Drug-Related Side Effects and Adverse Reactions; Enzyme Replacement Therapy; Fabry Disease; Humans; Isoenzymes; Male; Middle Aged; Recombinant Proteins	2020
A case of latent heterozygous Fabry disease in a female living kidney donor candidate. CEN case reports, 2021, Volume: 10, Issue:1 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Biopsy; Fabry Disease; Female; Hematuria; Heterozygote; Humans; Kidney; Kidney Transplantation; Living Donors; Medical Chaperones; Microscopy, Electron; Middle Aged; Mutation; Podocytes; Treatment Outcome	2021
Assessment of plasma lyso-Gb Genetics in medicine : official journal of the American College of Medical Genetics, 2021, Volume: 23, Issue:1 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Enzyme Replacement Therapy; Fabry Disease; Humans	2021
Misfolding of Lysosomal α-Galactosidase a in a Fly Model and Its Alleviation by the Pharmacological Chaperone Migalastat. International journal of molecular sciences, 2020, Oct-07, Volume: 21, Issue:19 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Animals; Animals, Genetically Modified; Brain; Cell Death; Cell Survival; Dopaminergic Neurons; Drosophila melanogaster; Endoplasmic Reticulum; Endoplasmic Reticulum-Associated Degradation; Fabry Disease; Fluorescent Antibody Technique; Lysosomes; Protein Folding; Unfolded Protein Response	2020
Migalastat Tissue Distribution: Extrapolation From Mice to Humans Using Pharmacokinetic Modeling and Comparison With Agalsidase Beta Tissue Distribution in Mice. Clinical pharmacology in drug development, 2021, Volume: 10, Issue:9 Topics: 1-Deoxynojirimycin; Adult; alpha-Galactosidase; Animals; Female; Humans; Isoenzymes; Male; Mice; Mice, Inbred C57BL; Mice, Knockout; Mice, Transgenic; Middle Aged; Models, Biological; Species Specificity; Tissue Distribution; Young Adult	2021
The New Pharmacological Chaperones PBXs Increase α-Galactosidase A Activity in Fabry Disease Cellular Models. Biomolecules, 2021, 12-10, Volume: 11, Issue:12 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Drug Stability; Enzyme Replacement Therapy; Fabry Disease; Galactose; HEK293 Cells; Humans; Hydrogen-Ion Concentration; Leukocytes, Mononuclear; Models, Biological; Models, Molecular; Mutation; Protein Conformation	2021
Treatment of Fabry Disease management with migalastat-outcome from a prospective 24 months observational multicenter study (FAMOUS). European heart journal. Cardiovascular pharmacotherapy, 2022, 05-05, Volume: 8, Issue:3 Topics: 1-Deoxynojirimycin; Disease Management; Fabry Disease; Female; Humans; Male; Prospective Studies	2022
Population Pharmacokinetics of Oral Migalastat in Adolescents and Adults With and Without Renal Impairment. Clinical pharmacology in drug development, 2022, Volume: 11, Issue:12 Topics: 1-Deoxynojirimycin; Adolescent; Adult; Child; Fabry Disease; Glomerular Filtration Rate; Humans; Renal Insufficiency	2022
Pharmacometric model of agalsidase-migalastat interaction in human: a novel mechanistic model of drug-drug interaction between a therapeutic protein and a small molecule. Journal of pharmacokinetics and pharmacodynamics, 2023, Volume: 50, Issue:1 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Drug Interactions; Humans; Mutation	2023
Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes. Journal of medical genetics, 2023, Volume: 60, Issue:7 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Enzyme Replacement Therapy; Fabry Disease; Female; Humans; Kidney	2023
Challenges in Fabry disease: the combination of two individually amenable Future cardiology, 2023, Volume: 19, Issue:1 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Fabry Disease; Humans; Male; Middle Aged; Mutation	2023