Page last updated: 2024-08-23

1-deoxynojirimycin and Fabry Disease

1-deoxynojirimycin has been researched along with Fabry Disease in 86 studies

Research

Studies (86)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	1 (1.16)	18.2507
2000's	18 (20.93)	29.6817
2010's	45 (52.33)	24.3611
2020's	22 (25.58)	2.80

Authors

Authors	Studies
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
Allocca, M; Andreotti, G; Bosso, A; Cubellis, MV; Hay Mele, B; Liguori, L; Lukas, J; Monti, MC; Monticelli, M; Morretta, E	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
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
Allocca, M; Andreotti, G; Cubellis, MV; Hay Mele, B; Liguori, L; Lukas, J; Monti, MC; Monticelli, M; Morretta, E	1
Azevedo, O; Bento, D; Costa, H; Fernandes, RM; Jesus, I; Marques, N; Mota, T; Santo, ME; Silva, DC	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
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
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
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
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
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
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
Andria, G; Parenti, G; Pisani, A; Porto, C	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
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
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
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
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
Etou, Y	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
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
Andreotti, G; Cammisa, M; Correra, A; Cubellis, MV; Guarracino, MR	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
Andreotti, G; Cammisa, M; Citro, V; Correra, A; Cubellis, MV; De Crescenzo, A; Orlando, P	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
Broersen, K; Couceiro, J; De Baets, G; Gallardo, R; Reumers, J; Rousseau, F; Rudyak, S; Schymkowitz, J; Siekierska, A; Van Durme, J	1
Germain, DP	1
Kolter, T; Wendeler, M	1
Fan, JQ; Ishii, S; Kulkarni, AB; Mannen, K; Yoshioka, H	1
Roth, J; Yam, GH; Zuber, C	1
Bosshard, N; Roth, J; Steinmann, B; Yam, GH; Zuber, C	1
Brady, RO	1
Alp, NJ; Butters, TD; Channon, KM; Clarke, K; Dwek, RA; Heare, T; Kulkarni, AB; Platt, FM; Priestman, DA; Qasba, P	1
Chang, HH; Fan, JQ; Garman, SC; Ishii, S; Kawasaki, K; Wu, HL; Yasuda, K	1
Asano, N; Fan, JQ; Ishii, S; Suzuki, Y	1
Abe, A; Arend, LJ; Brady, RO; Lee, L; Lingwood, C; Shayman, JA	1
Abe, A; Brady, RO; Gregory, S; Killen, PD; Kulkarni, A; Lee, L; Shayman, JA	1
Asano, N; Fan, JQ; Ikeda, K; Ishii, S; Kato, A; Kizu, H; Martin, OR; Yasuda, K	1

Reviews

16 review(s) available for 1-deoxynojirimycin and Fabry Disease

Article	Year
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
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
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
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
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
[Recent therapeutics for Fabry disease]. Nihon Naika Gakkai zasshi. The Journal of the Japanese Society of Internal Medicine, 2009, Apr-10, Volume: 98, Issue:4 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Cell- and Tissue-Based Therapy; Fabry Disease; Genetic Therapy; Glucosamine; Humans; Isoenzymes; Mass Screening; Trihexosylceramides	2009
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
[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

Trials

9 trial(s) available for 1-deoxynojirimycin and Fabry Disease

Article	Year
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
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
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
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

Other Studies

61 other study(ies) available for 1-deoxynojirimycin and Fabry Disease

Article	Year
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
Drug Repositioning for Fabry Disease: Acetylsalicylic Acid Potentiates the Stabilization of Lysosomal Alpha-Galactosidase by Pharmacological Chaperones. International journal of molecular sciences, 2022, May-04, Volume: 23, Issue:9 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Aspirin; Drug Repositioning; Fabry Disease; Humans; Lysosomes; Molecular Chaperones; Mutation	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
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
Curcumin Has Beneficial Effects on Lysosomal Alpha-Galactosidase: Potential Implications for the Cure of Fabry Disease. International journal of molecular sciences, 2023, Jan-06, Volume: 24, Issue:2 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Curcumin; Fabry Disease; Galactose; Humans; Lysosomes; Mutation	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
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
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
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
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
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
Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and agalsidase alpha in cultured fibroblasts from patients with Fabry disease. Journal of inherited metabolic disease, 2014, Volume: 37, Issue:1 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Fabry Disease; Fibroblasts; Humans; Male; Recombinant Proteins	2014
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
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
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
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
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
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
Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study. Orphanet journal of rare diseases, 2010, Dec-07, Volume: 5 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Catalytic Domain; Fabry Disease; Humans; Lysosomes; Models, Molecular; Molecular Chaperones; Mutation; Predictive Value of Tests; Software; Structure-Activity Relationship; Treatment Outcome	2010
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
Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests. Orphanet journal of rare diseases, 2011, Oct-17, Volume: 6 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Animals; Base Sequence; Catalytic Domain; Chlorocebus aethiops; COS Cells; Fabry Disease; Female; Humans; Male; Models, Molecular; Molecular Chaperones; Molecular Sequence Data; Muramidase; Mutagenesis, Site-Directed; Mutation, Missense; Predictive Value of Tests	2011
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
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
Transgenic mouse expressing human mutant alpha-galactosidase A in an endogenous enzyme deficient background: a biochemical animal model for studying active-site specific chaperone therapy for Fabry disease. Biochimica et biophysica acta, 2004, Nov-05, Volume: 1690, Issue:3 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Animals; Binding Sites; Cells, Cultured; Disease Models, Animal; Fabry Disease; Fibroblasts; Genetic Therapy; Heart; Humans; Mice; Mice, Knockout; Mice, Transgenic; Molecular Chaperones; Mutation; Myocardium; Protein Folding; RNA, Messenger; Sensitivity and Specificity; Trihexosylceramides	2004
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
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
Severe endothelial dysfunction in the aorta of a mouse model of Fabry disease; partial prevention by N-butyldeoxynojirimycin treatment. Journal of inherited metabolic disease, 2007, Volume: 30, Issue:1 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; Animals; Aorta; Disease Models, Animal; Enzyme Inhibitors; Fabry Disease; Female; Humans; Male; Mice; Mice, Inbred C57BL; Mice, Knockout; Microscopy, Electron; Phenotype	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
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
Glycosphingolipid depletion in fabry disease lymphoblasts with potent inhibitors of glucosylceramide synthase. Kidney international, 2000, Volume: 57, Issue:2 Topics: 1-Deoxynojirimycin; alpha-Galactosidase; B-Lymphocytes; Bacterial Toxins; Cell Line, Transformed; Dose-Response Relationship, Drug; Enzyme Inhibitors; Fabry Disease; Fluorescein-5-isothiocyanate; Fluorescent Dyes; Genetic Vectors; Glucosyltransferases; Glycosphingolipids; Herpesvirus 4, Human; Humans; Neutral Glycosphingolipids; Propanolamines; Pyrrolidines; Shiga Toxin 1; Trihexosylceramides	2000
Reduction of globotriaosylceramide in Fabry disease mice by substrate deprivation. The Journal of clinical investigation, 2000, Volume: 105, Issue:11 Topics: 1-Deoxynojirimycin; Animals; Dose-Response Relationship, Drug; Fabry Disease; Kidney; Male; Mice; Mice, Inbred C57BL; Mice, Knockout; Propanolamines; Pyrrolidines; Trihexosylceramides	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