aspartic acid has been researched along with ACY2 Deficiency in 97 studies
Aspartic Acid: One of the non-essential amino acids commonly occurring in the L-form. It is found in animals and plants, especially in sugar cane and sugar beets. It may be a neurotransmitter.
aspartic acid : An alpha-amino acid that consists of succinic acid bearing a single alpha-amino substituent
L-aspartic acid : The L-enantiomer of aspartic acid.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Canavan disease or N-acetyl aspartic aciduria, is an autosomal recessive leukodystrophy characterized by spongy degeneration of brain." | 7.74 | [Canavan disease or N-acetyl aspartic aciduria: a case report]. ( Boughamoura, L; Chaabane, F; Chabchoub, I; Essoussi, AS; Kabachi, N; Tilouche, S; Tlili, K; Yacoub, M, 2007) |
| "Canavan disease is an autosomal recessive leukodystrophy characterized by excessive excretion of N-acetylaspartic acid (NAA) in urine." | 7.74 | Quantification of N-acetylaspartic acid in urine by LC-MS/MS for the diagnosis of Canavan disease. ( Al-Dirbashi, OY; Al-Mokhadab, MA; Al-Qahtani, K; Al-Sayed, MA; Kurdi, W; Rashed, MS, 2007) |
| " Urine excretion of N-acetylaspartic acid was grossly increased, suggesting Canavan disease." | 3.81 | Leukodystrophy with multiple beaded periventricular cysts: unusual cranial MRI results in Canavan disease. ( Drenckhahn, A; Knierim, E; Schuelke, M, 2015) |
| "Canavan disease, or N-acetyl aspartic aciduria, is an autosomal recessive leukodystrophy characterized by spongy degeneration of the brain." | 3.79 | [Megalencephaly with dystonia revealing Canavan disease]. ( Chabchoub, I; Fourati, H; Hachicha, M; Kaabachi, N; Kamoun, T; Maaloul, I; Mnif, Z; Wali, M, 2013) |
| "The inherited leukodystrophy Canavan disease arises due to a loss of the ability to catabolize N-acetylaspartic acid (NAA) in the brain and constitutes a major point of focus for efforts to define NAA function." | 3.78 | Aspartoacylase supports oxidative energy metabolism during myelination. ( Francis, JS; Leone, P; Markov, V; Strande, L, 2012) |
| "N-Acetylaspartic acid accumulates in Canavan Disease, a severe inherited neurometabolic disease clinically characterized by severe mental retardation, hypotonia, macrocephaly and generalized tonic and clonic type seizures." | 3.76 | N-acetylaspartic acid impairs enzymatic antioxidant defenses and enhances hydrogen peroxide concentration in rat brain. ( de Souza Streck, E; Deckmann, KB; Dutra-Filho, CS; Magnusson, AS; Mescka, CP; Pederzolli, CD; Sgaravatti, AM; Sgarbi, MB; Wajner, M; Wannmacher, CM; Wyse, AT, 2010) |
| "Prenatal diagnosis of Canavan disease by measuring N-acetylaspartic acid (NAA) in amniotic fluid is reliable and preferred over aspartoacylase enzyme assay especially in populations with unknown mutations." | 3.75 | Reliable prenatal diagnosis of Canavan disease by measuring N-acetylaspartate in amniotic fluid using liquid chromatography tandem mass spectrometry. ( Ahmad, AM; Al-Dirbashi, OY; Al-Nemer, M; Al-Sayed, M; Imtiaz, F; Kurdi, W; Rashed, MS; Tulbah, M, 2009) |
| "N-acetylaspartic acid (NAA) is the biochemical hallmark of Canavan Disease, an inherited metabolic disease caused by deficiency of aspartoacylase activity." | 3.75 | Intracerebroventricular administration of N-acetylaspartic acid impairs antioxidant defenses and promotes protein oxidation in cerebral cortex of rats. ( de Mattos Dutra, A; Dutra-Filho, CS; Henn, NT; Pederzolli, CD; Rockenbach, FJ; Romagna, EC; Sgaravatti, AM; Wajner, M; Wannmacher, CM; Wyse, AT; Zanin, FR, 2009) |
| "Canavan disease or N-acetyl aspartic aciduria, is an autosomal recessive leukodystrophy characterized by spongy degeneration of brain." | 3.74 | [Canavan disease or N-acetyl aspartic aciduria: a case report]. ( Boughamoura, L; Chaabane, F; Chabchoub, I; Essoussi, AS; Kabachi, N; Tilouche, S; Tlili, K; Yacoub, M, 2007) |
| "Canavan disease is an autosomal recessive leukodystrophy characterized by excessive excretion of N-acetylaspartic acid (NAA) in urine." | 3.74 | Quantification of N-acetylaspartic acid in urine by LC-MS/MS for the diagnosis of Canavan disease. ( Al-Dirbashi, OY; Al-Mokhadab, MA; Al-Qahtani, K; Al-Sayed, MA; Kurdi, W; Rashed, MS, 2007) |
| "Canavan disease (CD) or N-acetylaspartic aciduria (NAA) is a severe, progressive, autosomal recessive leukodystrophy, occurring mainly among Ashkenazi Jewish individuals." | 3.70 | Protracted course of N-acetylaspartic aciduria in two non-Jewish siblings: identical clinical and magnetic resonance imaging findings. ( Anastasiou, AL; Augoustidou-Savvopoulou, P; Fagan, E; Kleijer, WJ; Kontopoulos, EE; Maroupoulos, G; Papadopoulou, F; Payne, S; Zafeiriou, DI, 1999) |
| "As a result of aspartoacylase deficiency, NAA builds up in extracellular fluids (ECF) and is excreted in urine." | 2.40 | Canavan disease. Analysis of the nature of the metabolic lesions responsible for development of the observed clinical symptoms. ( Baslow, MH; Resnik, TR, 1997) |
| "Canavan disease, spongy degeneration of the brain, is an autosomal recessive disorder with increased prevalence among Ashkenazi Jews." | 2.40 | Canavan disease: diagnosis and molecular analysis. ( Matalon, R, 1997) |
| "An animal model for Canavan disease is needed to study some of the questions regarding the role of NAA in brain tissue, and for the study of therapeutic modalities, including gene therapy." | 2.39 | Canavan disease: from spongy degeneration to molecular analysis. ( Kaul, R; Matalon, R; Michals, K, 1995) |
| "Canavan disease is a leukodystrophy caused by aspartoacylase (ASPA) deficiency." | 1.46 | Suppressing N-Acetyl-l-Aspartate Synthesis Prevents Loss of Neurons in a Murine Model of Canavan Leukodystrophy. ( Bannerman, P; Burns, T; Croteau, C; Guo, F; McDonough, JA; Miers, L; Pleasure, D; Singhal, NK; Sohn, J, 2017) |
| "Canavan disease is a major point of focus for efforts to define NAA function, with available evidence suggesting NAA serves as an acetyl donor for fatty acid synthesis during myelination." | 1.43 | N-acetylaspartate supports the energetic demands of developmental myelination via oligodendroglial aspartoacylase. ( Bilaniuk, LT; De Vivo, DC; Francis, JS; Gray, SJ; Janson, CG; Leone, P; Markov, V; McCown, TJ; Samulski, RJ; Wang, DJ; Wojtas, I, 2016) |
| "Canavan disease is caused by inactivating ASPA (aspartoacylase) mutations that prevent cleavage of N-acetyl-L-aspartate (NAA), resulting in marked elevations in central nervous system (CNS) NAA and progressively worsening leukodystrophy." | 1.42 | Ablating N-acetylaspartate prevents leukodystrophy in a Canavan disease model. ( Bannerman, P; Burns, T; Freeman, E; Guo, F; Li, S; McDonough, JA; Miers, L; Mills Ko, E; Pleasure, D; Xu, J, 2015) |
| "Canavan disease is an autosomal recessive leukodystrophy characterized by early onset developmental delay, initial hypotonia progressing to hypertonia, macrocephaly and blindness." | 1.39 | Radiological clue to diagnosis of Canavan disease. ( Purushothaman, KK; Sreenivasan, P, 2013) |
| "Canavan disease is a hereditary leukodystrophy caused by mutations in the aspartoacylase gene (ASPA), leading to loss of enzyme activity and increased concentrations of the substrate N-acetyl-aspartate (NAA) in the brain." | 1.38 | Long-term follow-up after gene therapy for canavan disease. ( Assadi, M; Bilaniuk, LT; During, MJ; Francis, JS; Freese, A; Goldfarb, O; Goldman, HW; Janson, CG; Kolodny, EH; Leone, P; McPhee, SW; Samulski, RJ; Shera, D; Wang, DJ; Young, D, 2012) |
| "Canavan disease is a megalencephalic leukodystrophy due to deficiency of the enzyme aspartoacylase." | 1.34 | Restricted diffusion in Canavan disease. ( Chandrashekar, HS; Jayakumar, PN; Nagarajan, K; Srikanth, SG, 2007) |
| "Canavan disease is an early onset leukodystrophy associated with psychomotor retardation, seizures, and premature death." | 1.33 | Restoration of aspartoacylase activity in CNS neurons does not ameliorate motor deficits and demyelination in a model of Canavan disease. ( During, MJ; Klugmann, M; Leichtlein, CB; Serikawa, T; Symes, CW; Young, D, 2005) |
| " Chronic administration of GTA up to 25 days of age did not result in any overt pathology in the mice." | 1.33 | Progress toward acetate supplementation therapy for Canavan disease: glyceryl triacetate administration increases acetate, but not N-acetylaspartate, levels in brain. ( Arun, P; Madhavarao, CN; Mathew, R; Moffett, JR; Namboodiri, MA, 2005) |
| "Canavan disease is a severe, progressive leukodystrophy with an autosomal recessive inheritance, caused by aspartoacylase (ASPA) deficiency." | 1.33 | Atypical MRI findings in Canavan disease: a patient with a mild course. ( Benbir, G; Jakobs, C; Karaarslan, E; Rolland, MO; Salomons, GS; van der Knaap, MS; Yalcinkaya, C, 2005) |
| "Canavan disease is a childhood leukodystrophy caused by mutations in the gene for human aspartoacylase ( ASPA), which leads to an abnormal accumulation of the substrate molecule N-acetyl-aspartate (NAA) in the brain." | 1.33 | Natural history of Canavan disease revealed by proton magnetic resonance spectroscopy (1H-MRS) and diffusion-weighted MRI. ( Assadi, M; Bilaniuk, L; Francis, J; Freese, A; Haselgrove, J; Hurh, P; Janson, CG; Leone, P; McPhee, SW; Shera, D; Wang, DJ, 2006) |
| "Canavan disease is a devastating neurodegenerative childhood disease caused by mutations in aspartoacylase, an enzyme that deacetylates N-acetylaspartate to generate free acetate in the brain." | 1.31 | Aspartoacylase is restricted primarily to myelin synthesizing cells in the CNS: therapeutic implications for Canavan disease. ( Jacobowitz, DM; Kallarakal, AT; Kirmani, BF; Namboodiri, MA, 2002) |
| "Canavan disease is a severe, progressive autosomal recessive neurodegenerative leukodystrophy." | 1.31 | Novel splice site mutation of aspartoacylase gene in a Turkish patient with Canavan disease. ( Matalon, R; Penzien, JM; Rady, PL; Tyring, SK; Vargas, T, 2000) |
| "Canavan disease is caused by mutations in aspartoacylase, the enzyme that degrades N-acetylaspartate (NAA) into acetate and aspartate." | 1.31 | Murine aspartoacylase: cloning, expression and comparison with the human enzyme. ( Corigliano-Murphy, A; Jiang, G; Namboodiri, MA; Provencio, I; Rollag, M, 2000) |
| "MR studies of these infants showed obstructive hydrocephalus caused by mass effect produced by an enlarged cerebellum." | 1.30 | Imaging studies in a unique familial dysmyelinating disorder. ( Duhaime, AC; Gripp, KW; Molloy, PT; Muenke, M; Rorke, LB; Schut, L; Tucker, SH; Wang, ZJ; Zackai, EH; Zimmerman, RA, 1998) |
| "Canavan disease is an infantile neurodegenerative disease that is caused by mutations in the gene encoding the enzyme aspartoacylase." | 1.30 | The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients. ( Elpeleg, ON; Shaag, A, 1999) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 19 (19.59) | 18.2507 |
| 2000's | 48 (49.48) | 29.6817 |
| 2010's | 26 (26.80) | 24.3611 |
| 2020's | 4 (4.12) | 2.80 |
| Authors | Studies |
|---|---|
| Hull, VL | 1 |
| Wang, Y | 3 |
| Burns, T | 5 |
| Sternbach, S | 2 |
| Gong, S | 1 |
| McDonough, J | 3 |
| Guo, F | 5 |
| Borodinsky, LN | 1 |
| Pleasure, D | 5 |
| Hull, V | 2 |
| Zhang, S | 1 |
| Kocak, A | 1 |
| Yildiz, M | 1 |
| Baslow, MH | 10 |
| von Jonquieres, G | 1 |
| Spencer, ZHT | 1 |
| Rowlands, BD | 1 |
| Klugmann, CB | 1 |
| Bongers, A | 1 |
| Harasta, AE | 1 |
| Parley, KE | 1 |
| Cederholm, J | 1 |
| Teahan, O | 1 |
| Pickford, R | 1 |
| Delerue, F | 1 |
| Ittner, LM | 1 |
| Fröhlich, D | 1 |
| McLean, CA | 1 |
| Don, AS | 1 |
| Schneider, M | 1 |
| Housley, GD | 1 |
| Rae, CD | 1 |
| Klugmann, M | 2 |
| Chechneva, O | 1 |
| Bannerman, P | 3 |
| Mutthamsetty, V | 1 |
| Dahal, GP | 1 |
| Wang, Q | 1 |
| Viola, RE | 4 |
| Ahmed, SS | 1 |
| Gao, G | 2 |
| Maaloul, I | 1 |
| Fourati, H | 1 |
| Wali, M | 1 |
| Chabchoub, I | 2 |
| Kamoun, T | 1 |
| Mnif, Z | 1 |
| Kaabachi, N | 1 |
| Hachicha, M | 1 |
| Di Pietro, V | 2 |
| Cavallari, U | 1 |
| Amorini, AM | 2 |
| Lazzarino, G | 2 |
| Longo, S | 1 |
| Poggiani, C | 1 |
| Cavalli, P | 1 |
| Tavazzi, B | 2 |
| Francis, JS | 5 |
| Markov, V | 3 |
| Leone, P | 11 |
| Skorupa, A | 1 |
| Wicher, M | 1 |
| Banasik, T | 1 |
| Jamroz, E | 1 |
| Paprocka, J | 1 |
| Kiełtyka, A | 1 |
| Sokół, M | 1 |
| Konopka, M | 1 |
| Drenckhahn, A | 1 |
| Schuelke, M | 1 |
| Knierim, E | 1 |
| Mills Ko, E | 1 |
| Miers, L | 2 |
| Xu, J | 1 |
| Li, S | 1 |
| Freeman, E | 1 |
| McDonough, JA | 2 |
| De Bernardo, G | 1 |
| Giordano, M | 1 |
| Sordino, D | 1 |
| Buono, S | 1 |
| Maier, H | 1 |
| Wang-Eckhardt, L | 1 |
| Hartmann, D | 1 |
| Gieselmann, V | 1 |
| Eckhardt, M | 1 |
| Sarret, C | 1 |
| Boespflug-Tanguy, O | 1 |
| Rodriguez, D | 1 |
| Wojtas, I | 1 |
| Gray, SJ | 1 |
| McCown, TJ | 1 |
| Samulski, RJ | 2 |
| Bilaniuk, LT | 2 |
| Wang, DJ | 5 |
| De Vivo, DC | 1 |
| Janson, CG | 8 |
| Sohn, J | 1 |
| Croteau, C | 1 |
| Singhal, NK | 1 |
| Kimiskidis, VK | 1 |
| Papaliagkas, V | 1 |
| Papagiannopoulos, S | 1 |
| Zafeiriou, D | 1 |
| Kazis, D | 1 |
| Tsatsali-Foroglou, E | 1 |
| Kouvatsou, Z | 1 |
| Kapina, V | 1 |
| Koutsonikolas, D | 1 |
| Anogianakis, G | 1 |
| Geroukis, T | 1 |
| Bostantjopoulou, S | 1 |
| Gessler, DJ | 1 |
| Li, D | 1 |
| Xu, H | 1 |
| Su, Q | 1 |
| Sanmiguel, J | 1 |
| Tuncer, S | 1 |
| Moore, C | 1 |
| King, J | 1 |
| Matalon, R | 9 |
| Traka, M | 1 |
| Wollmann, RL | 1 |
| Cerda, SR | 1 |
| Dugas, J | 1 |
| Barres, BA | 1 |
| Popko, B | 1 |
| Al-Dirbashi, OY | 2 |
| Kurdi, W | 2 |
| Imtiaz, F | 1 |
| Ahmad, AM | 1 |
| Al-Sayed, M | 1 |
| Tulbah, M | 1 |
| Al-Nemer, M | 1 |
| Rashed, MS | 2 |
| Pederzolli, CD | 2 |
| Rockenbach, FJ | 1 |
| Zanin, FR | 1 |
| Henn, NT | 1 |
| Romagna, EC | 1 |
| Sgaravatti, AM | 2 |
| Wyse, AT | 2 |
| Wannmacher, CM | 2 |
| Wajner, M | 2 |
| de Mattos Dutra, A | 1 |
| Dutra-Filho, CS | 2 |
| Guilfoyle, DN | 2 |
| Kolodziejczyk, K | 1 |
| Hamilton, NB | 1 |
| Wade, A | 1 |
| Káradóttir, R | 1 |
| Attwell, D | 1 |
| Mizuguchi, K | 1 |
| Hoshino, H | 1 |
| Hamaguchi, H | 1 |
| Kubota, M | 1 |
| Assadi, M | 5 |
| Janson, C | 1 |
| Goldfarb, O | 3 |
| Suri, N | 1 |
| Bilaniuk, L | 4 |
| Mescka, CP | 1 |
| Magnusson, AS | 1 |
| Deckmann, KB | 1 |
| de Souza Streck, E | 1 |
| Sgarbi, MB | 1 |
| Arun, P | 5 |
| Madhavarao, CN | 6 |
| Moffett, JR | 7 |
| Hamilton, K | 1 |
| Grunberg, NE | 1 |
| Ariyannur, PS | 1 |
| Gahl, WA | 1 |
| Anikster, Y | 2 |
| Mog, S | 1 |
| Hallows, WC | 1 |
| Denu, JM | 1 |
| Namboodiri, AM | 5 |
| Surendran, S | 4 |
| Strande, L | 1 |
| Sreenivasan, P | 1 |
| Purushothaman, KK | 1 |
| Zano, S | 1 |
| Wijayasinghe, YS | 1 |
| Malik, R | 1 |
| Smith, J | 1 |
| Shera, D | 4 |
| McPhee, SW | 3 |
| Kolodny, EH | 2 |
| Goldman, HW | 1 |
| Freese, A | 4 |
| Young, D | 2 |
| During, MJ | 3 |
| Kirmani, BF | 1 |
| Jacobowitz, DM | 2 |
| Kallarakal, AT | 1 |
| Namboodiri, MA | 4 |
| Moore, RA | 1 |
| Le Coq, J | 1 |
| Faehnle, CR | 1 |
| Matalon, KM | 1 |
| Szucs, S | 2 |
| Tyring, SK | 3 |
| Bamforth, FJ | 1 |
| Chan, A | 1 |
| Goodman, SI | 1 |
| Inoue, Y | 1 |
| Kuhara, T | 1 |
| Mikhaĭlova, SV | 1 |
| Zakharova, EIu | 1 |
| Bukina, AM | 1 |
| Il'ina, ES | 1 |
| Pokrovskaia, AIa | 1 |
| Fedoniuk, ID | 1 |
| Bembeeva, RTs | 1 |
| Petrukhin, AS | 1 |
| Garbern, J | 1 |
| Hristova, D | 1 |
| Johnson, A | 1 |
| Jiang, W | 1 |
| Leichtlein, CB | 1 |
| Symes, CW | 1 |
| Serikawa, T | 3 |
| Francis, J | 3 |
| Hyland, K | 1 |
| Ong, EO | 1 |
| Raghavan, SS | 1 |
| Chen, V | 1 |
| Bal, D | 1 |
| Gryff-Keller, A | 1 |
| Gradowska, W | 1 |
| Mathew, R | 3 |
| Bellia, F | 1 |
| Ceccarelli, L | 1 |
| Donzelli, S | 1 |
| Giardina, B | 1 |
| Yalcinkaya, C | 1 |
| Benbir, G | 1 |
| Salomons, GS | 1 |
| Karaarslan, E | 1 |
| Rolland, MO | 3 |
| Jakobs, C | 4 |
| van der Knaap, MS | 1 |
| Zeng, BJ | 1 |
| Raghavan, S | 1 |
| Pastores, G | 1 |
| Torres, P | 1 |
| McPhee, S | 1 |
| Saslow, B | 1 |
| Peethambaran, A | 1 |
| Sambhu, PA | 1 |
| Hershfield, J | 2 |
| Namboodiri, S | 1 |
| Potti, A | 1 |
| Kirmani, B | 1 |
| Harris, K | 1 |
| Lin, A | 1 |
| Bhattacharya, P | 1 |
| Tran, T | 1 |
| Wong, W | 1 |
| Ross, B | 2 |
| Kumar, S | 1 |
| Mattan, NS | 1 |
| de Vellis, J | 1 |
| Hurh, P | 1 |
| Haselgrove, J | 1 |
| Bitto, E | 1 |
| Bingman, CA | 1 |
| Wesenberg, GE | 1 |
| McCoy, JG | 1 |
| Phillips, GN | 1 |
| Boughamoura, L | 1 |
| Chaabane, F | 1 |
| Tilouche, S | 1 |
| Kabachi, N | 1 |
| Tlili, K | 1 |
| Yacoub, M | 1 |
| Essoussi, AS | 1 |
| Srikanth, SG | 1 |
| Chandrashekar, HS | 1 |
| Nagarajan, K | 1 |
| Jayakumar, PN | 1 |
| Al-Qahtani, K | 1 |
| Al-Mokhadab, MA | 1 |
| Al-Sayed, MA | 1 |
| Velinov, M | 1 |
| Zellers, N | 1 |
| Styles, J | 1 |
| Wisniewski, K | 1 |
| Engelbrecht, V | 1 |
| Rassek, M | 1 |
| Gärtner, J | 1 |
| Kahn, T | 1 |
| Mödder, U | 1 |
| Michals, K | 1 |
| Kaul, R | 1 |
| Elpeleg, ON | 4 |
| Shaag, A | 3 |
| Burlina, AP | 1 |
| Skaper, SD | 1 |
| Mazza, MR | 1 |
| Ferrari, V | 1 |
| Leon, A | 1 |
| Burlina, AB | 1 |
| Toft, PB | 1 |
| Geiss-Holtorff, R | 1 |
| Pryds, O | 1 |
| Müller-Forell, W | 1 |
| Christensen, E | 1 |
| Lehnert, W | 1 |
| Lou, HC | 1 |
| Ott, D | 1 |
| Hennig, J | 1 |
| Bennett, MJ | 1 |
| Gibson, KM | 1 |
| Sherwood, WG | 1 |
| Divry, P | 1 |
| Rinaldo, P | 1 |
| Kelley, RI | 1 |
| Resnik, TR | 1 |
| Breslau, J | 1 |
| Gripp, KW | 1 |
| Zimmerman, RA | 1 |
| Wang, ZJ | 1 |
| Rorke, LB | 1 |
| Duhaime, AC | 1 |
| Schut, L | 1 |
| Molloy, PT | 1 |
| Tucker, SH | 1 |
| Zackai, EH | 1 |
| Muenke, M | 1 |
| Blüml, S | 3 |
| Zafeiriou, DI | 1 |
| Kleijer, WJ | 1 |
| Maroupoulos, G | 1 |
| Anastasiou, AL | 1 |
| Augoustidou-Savvopoulou, P | 1 |
| Papadopoulou, F | 1 |
| Kontopoulos, EE | 1 |
| Fagan, E | 1 |
| Payne, S | 1 |
| Besley, GT | 1 |
| Manning, NJ | 1 |
| Walter, JH | 1 |
| Michals-Matalon, K | 2 |
| Rady, PL | 1 |
| Penzien, JM | 1 |
| Vargas, T | 1 |
| Corigliano-Murphy, A | 1 |
| Jiang, G | 1 |
| Rollag, M | 1 |
| Provencio, I | 1 |
| Suckow, RF | 2 |
| Hungund, BL | 2 |
| Moreno, A | 2 |
| Hwang, JH | 1 |
| Ross, BD | 2 |
| Chakraborty, G | 1 |
| Mekala, P | 1 |
| Yahya, D | 1 |
| Wu, G | 1 |
| Ledeen, RW | 1 |
| Gordon, N | 1 |
| Kobayashi, K | 1 |
| Tsujino, S | 1 |
| Harting, I | 1 |
| Seitz, A | 1 |
| McPhee, SJ | 1 |
| Kitada, K | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Phase 1/2, Open Label, Sequential Cohort Study of a Single Intracranial Dose of AVASPA Gene Therapy for Treatment of Children With Typical Canavan Disease[NCT04833907] | Phase 1/Phase 2 | 24 participants (Anticipated) | Interventional | 2021-04-01 | Active, not recruiting | ||
| Phase 1 Treatment With GTA in Two Infant With Canavan Disease[NCT00278707] | Phase 1 | 5 participants | Interventional | 2006-01-31 | Active, not recruiting | ||
| Evaluation of the Tolerance and Efficiency of a Combined Oral Therapy With Lithium and GTA in Patients With Canavan Disease[NCT00657748] | Phase 2 | 0 participants (Actual) | Interventional | 2009-09-30 | Withdrawn | ||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
17 reviews available for aspartic acid and ACY2 Deficiency
| Article | Year |
|---|---|
Brain N-acetylaspartate as a molecular water pump and its role in the etiology of Canavan disease: a mechanistic explanation.
Topics: Animals; Aspartic Acid; Brain; Canavan Disease; Extracellular Fluid; Humans; Hydrostatic Pressure; M | 2003 |
Canavan disease and the role of N-acetylaspartate in myelin synthesis.
Topics: Aging; Animals; Aspartic Acid; Canavan Disease; Central Nervous System; Humans; Mice; Mice, Knockout | 2006 |
Preface: a brief review of N-acetylaspartate.
Topics: Animals; Aspartic Acid; Canavan Disease; Dipeptides; Energy Metabolism; Humans; Magnetic Resonance S | 2006 |
Defective myelin lipid synthesis as a pathogenic mechanism of Canavan disease.
Topics: Acetates; Acetyltransferases; Amidohydrolases; Animals; Aspartic Acid; Canavan Disease; Humans; Lipi | 2006 |
Canavan disease: a white matter disorder.
Topics: Aspartic Acid; Biomarkers; Brain; Canavan Disease; Diagnosis, Differential; Genetic Counseling; Glut | 2006 |
N-Acetylaspartate in the CNS: from neurodiagnostics to neurobiology.
Topics: Animals; Aspartic Acid; Canavan Disease; Central Nervous System; Energy Metabolism; Humans; Lipid Me | 2007 |
Canavan disease: from spongy degeneration to molecular analysis.
Topics: Age of Onset; Aspartic Acid; Brain; Canavan Disease; Child; Diagnosis, Differential; Humans; Jews; M | 1995 |
Canavan disease. Analysis of the nature of the metabolic lesions responsible for development of the observed clinical symptoms.
Topics: Amidohydrolases; Animals; Aspartic Acid; Canavan Disease; Central Nervous System; Female; Fetal Dise | 1997 |
Molecular water pumps and the aetiology of Canavan disease: a case of the sorcerer's apprentice.
Topics: Aspartic Acid; Body Water; Canavan Disease; Humans | 1999 |
Canavan disease: diagnosis and molecular analysis.
Topics: Amidohydrolases; Aspartic Acid; Canavan Disease; Cloning, Molecular; Diagnosis, Differential; Female | 1997 |
Recent advances in Canavan disease.
Topics: Amidohydrolases; Animals; Aspartic Acid; Canavan Disease; Child; Diagnosis, Differential; Disease Mo | 1999 |
Molecular basis of Canavan disease.
Topics: Alleles; Amidohydrolases; Aspartic Acid; Canavan Disease; DNA Mutational Analysis; Humans; Incidence | 1998 |
Canavan's spongiform leukodystrophy: a clinical anatomy of a genetic metabolic CNS disease.
Topics: Aspartic Acid; Astrocytes; Axons; Brain; Canavan Disease; Humans | 2000 |
Canavan disease: a review of recent developments.
Topics: Amidohydrolases; Aspartic Acid; Canavan Disease; Female; Genetic Therapy; Humans; Infant; Infant, Ne | 2001 |
[Canavan disease (aspartoacylase deficiency)].
Topics: Amidohydrolases; Aspartic Acid; Brain; Canavan Disease; Diagnosis, Differential; Humans; Mutation; P | 2001 |
Global CNS gene transfer for a childhood neurogenetic enzyme deficiency: Canavan disease.
Topics: Acetates; Acetazolamide; Amidohydrolases; Animals; Aspartic Acid; Brain; Brain Edema; Calcium Compou | 1999 |
Evidence supporting a role for N-acetyl-L-aspartate as a molecular water pump in myelinated neurons in the central nervous system. An analytical review.
Topics: Adolescent; Adult; Amidohydrolases; Aquaporins; Aspartic Acid; Body Water; Brain; Canavan Disease; C | 2002 |
1 trial available for aspartic acid and ACY2 Deficiency
| Article | Year |
|---|---|
Direct determination of the N-acetyl-L-aspartate synthesis rate in the human brain by (13)C MRS and [1-(13)C]glucose infusion.
Topics: Adult; Amidohydrolases; Aspartic Acid; Brain; Canavan Disease; Carbon Isotopes; Child, Preschool; Gl | 2001 |
79 other studies available for aspartic acid and ACY2 Deficiency
| Article | Year |
|---|---|
Pathological Bergmann glia alterations and disrupted calcium dynamics in ataxic Canavan disease mice.
Topics: Animals; Aspartic Acid; Ataxia; Atrophy; Calcium; Canavan Disease; Child; Humans; Infant; Mice; Neur | 2023 |
Antisense Oligonucleotide Reverses Leukodystrophy in Canavan Disease Mice.
Topics: Acetyltransferases; Amidohydrolases; Animals; Aspartic Acid; Ataxia; Atrophy; Canavan Disease; Cereb | 2020 |
Docking, molecular dynamics and free energy studies on aspartoacylase mutations involved in Canavan disease.
Topics: Amidohydrolases; Aspartic Acid; Canavan Disease; Catalytic Domain; Humans; Hydrogen Bonding; Molecul | 2017 |
Rescuing Canavan disease: engineering the wrong cell at the right time.
Topics: Amidohydrolases; Aspartic Acid; Canavan Disease; Humans; Myelin Sheath | 2017 |
Uncoupling N-acetylaspartate from brain pathology: implications for Canavan disease gene therapy.
Topics: Acetyltransferases; Amidohydrolases; Animals; Aspartic Acid; Brain; Canavan Disease; Disease Models, | 2018 |
Pathophysiology and Treatment of Canavan Disease.
Topics: Acetyltransferases; Amidohydrolases; Animals; Aspartic Acid; Astrocytes; Canavan Disease; Cerebellum | 2020 |
Development of bisubstrate analog inhibitors of aspartate N-acetyltransferase, a critical brain enzyme.
Topics: Acetyltransferases; Aspartic Acid; Binding Sites; Brain; Canavan Disease; Drug Discovery; Enzyme Inh | 2020 |
Gene therapy for Canavan's disease takes a step forward.
Topics: Amidohydrolases; Aspartic Acid; Canavan Disease; Dependovirus; Genetic Therapy; Genetic Vectors; Hum | 2013 |
[Megalencephaly with dystonia revealing Canavan disease].
Topics: Aspartic Acid; Brain; Canavan Disease; Developmental Disabilities; Dystonia; Female; Humans; Infant; | 2013 |
New T530C mutation in the aspartoacylase gene caused Canavan disease with no correlation between severity and N-acetylaspartate excretion.
Topics: Amidohydrolases; Aspartic Acid; Canavan Disease; Child, Preschool; Homozygote; Humans; Infant; Magne | 2013 |
Dietary triheptanoin rescues oligodendrocyte loss, dysmyelination and motor function in the nur7 mouse model of Canavan disease.
Topics: Adenosine Triphosphate; Amidohydrolases; Animals; Aspartic Acid; Canavan Disease; Disease Models, An | 2014 |
Four-and-one-half years' experience in monitoring of reproducibility of an MR spectroscopy system--application of in vitro results to interpretation of in vivo data.
Topics: Adolescent; Adult; Algorithms; Aspartic Acid; Biomarkers; Brain; Canavan Disease; Child; Child, Pres | 2014 |
Leukodystrophy with multiple beaded periventricular cysts: unusual cranial MRI results in Canavan disease.
Topics: Amidohydrolases; Aspartic Acid; Brain; Brain Diseases; Canavan Disease; Central Nervous System Cysts | 2015 |
Ablating N-acetylaspartate prevents leukodystrophy in a Canavan disease model.
Topics: Animals; Aspartic Acid; Canavan Disease; Disease Models, Animal; Female; Male; Mice; Mice, Knockout | 2015 |
Early diagnosis of Canavan syndrome: how can we get there?
Topics: Aspartic Acid; Canavan Disease; Early Diagnosis; Genetic Therapy; Humans; Infant; Magnetic Resonance | 2015 |
N-Acetylaspartate Synthase Deficiency Corrects the Myelin Phenotype in a Canavan Disease Mouse Model But Does Not Affect Survival Time.
Topics: Acetyltransferases; Amidohydrolases; Animals; Aspartic Acid; Axons; Behavior, Animal; Canavan Diseas | 2015 |
Atypical clinical and radiological course of a patient with Canavan disease.
Topics: Amidohydrolases; Aspartic Acid; Brain; Canavan Disease; Child; Female; Humans; Magnetic Resonance Im | 2016 |
N-acetylaspartate supports the energetic demands of developmental myelination via oligodendroglial aspartoacylase.
Topics: Amidohydrolases; Animals; Aspartic Acid; Autophagy-Related Proteins; Basic Helix-Loop-Helix Transcri | 2016 |
Suppressing N-Acetyl-l-Aspartate Synthesis Prevents Loss of Neurons in a Murine Model of Canavan Leukodystrophy.
Topics: Animals; Aspartic Acid; Canavan Disease; Disease Models, Animal; Female; Male; Mice; Mice, Inbred C5 | 2017 |
Investigation of the motor system in two siblings with Canavan's disease: a combined transcranial magnetic stimulation (TMS) - diffusion tensor imaging (DTI) study.
Topics: Adult; Aspartic Acid; Canavan Disease; Diffusion Tensor Imaging; Efferent Pathways; Evoked Potential | 2017 |
Redirecting
Topics: Amidohydrolases; Animals; Aspartic Acid; Blood-Brain Barrier; Canavan Disease; Central Nervous Syste | 2017 |
Nur7 is a nonsense mutation in the mouse aspartoacylase gene that causes spongy degeneration of the CNS.
Topics: Age Factors; Amidohydrolases; Animals; Animals, Newborn; Aspartic Acid; Axons; Behavior, Animal; Can | 2008 |
Reliable prenatal diagnosis of Canavan disease by measuring N-acetylaspartate in amniotic fluid using liquid chromatography tandem mass spectrometry.
Topics: Amidohydrolases; Amniotic Fluid; Aspartic Acid; Canavan Disease; Case-Control Studies; Chromatograph | 2009 |
Intracerebroventricular administration of N-acetylaspartic acid impairs antioxidant defenses and promotes protein oxidation in cerebral cortex of rats.
Topics: Animals; Antioxidants; Aspartic Acid; Brain Damage, Chronic; Canavan Disease; Catalase; Cerebral Cor | 2009 |
Are astrocytes the missing link between lack of brain aspartoacylase activity and the spongiform leukodystrophy in Canavan disease?
Topics: Amidohydrolases; Animals; Aspartic Acid; Astrocytes; Brain; Canavan Disease; Dipeptides; Disease Mod | 2009 |
The effect of N-acetyl-aspartyl-glutamate and N-acetyl-aspartate on white matter oligodendrocytes.
Topics: Action Potentials; Animals; Aspartic Acid; Calcium; Canavan Disease; Cerebellum; Dipeptides; Evoked | 2009 |
[Long term clinical course of Canavan disease--a rare Japanese case].
Topics: Adult; Amidohydrolases; Asian People; Aspartic Acid; Biomarkers; Canavan Disease; Female; Humans; Ma | 2009 |
Lithium citrate reduces excessive intra-cerebral N-acetyl aspartate in Canavan disease.
Topics: Aspartic Acid; Basal Ganglia; Canavan Disease; Cerebral Cortex; Choline; Citrates; Creatine; Diffusi | 2010 |
N-acetylaspartic acid impairs enzymatic antioxidant defenses and enhances hydrogen peroxide concentration in rat brain.
Topics: Animals; Antioxidants; Aspartic Acid; Brain; Canavan Disease; Catalase; Drug Administration Schedule | 2010 |
Metabolic acetate therapy improves phenotype in the tremor rat model of Canavan disease.
Topics: Acetates; Animals; Aspartic Acid; Brain; Canavan Disease; Disease Models, Animal; Female; Heterozygo | 2010 |
Upregulation of N-acetylaspartic acid resulting nitric oxide toxicity induces aspartoacylase mutations and protein interaction to cause pathophysiology seen in Canavan disease.
Topics: Amidohydrolases; Aspartic Acid; Canavan Disease; Humans; Mutation; Nitric Oxide; Nitric Oxide Syntha | 2010 |
Aspartoacylase supports oxidative energy metabolism during myelination.
Topics: Amidohydrolases; Animals; Aspartic Acid; Biomarkers; Canavan Disease; Cells, Cultured; Chromatograph | 2012 |
Radiological clue to diagnosis of Canavan disease.
Topics: Aspartic Acid; Brain; Canavan Disease; Humans; Infant; Magnetic Resonance Imaging; Male | 2013 |
Relationship between enzyme properties and disease progression in Canavan disease.
Topics: Amidohydrolases; Aspartic Acid; Brain; Canavan Disease; Catalysis; Disease Progression; Humans; Muta | 2013 |
Canavan disease, a rare early-onset human spongiform leukodystrophy: insights into its genesis and possible clinical interventions.
Topics: Acetates; Animals; Aspartic Acid; Brain; Canavan Disease; Extracellular Fluid; Humans; Myelin Sheath | 2013 |
Long-term follow-up after gene therapy for canavan disease.
Topics: Aspartic Acid; Brain; Canavan Disease; Child; Child, Preschool; Genetic Therapy; Humans; Infant; Pro | 2012 |
Aspartoacylase is restricted primarily to myelin synthesizing cells in the CNS: therapeutic implications for Canavan disease.
Topics: Acetic Acid; Amidohydrolases; Animals; Aspartic Acid; Canavan Disease; Central Nervous System; Cytop | 2002 |
Purification and preliminary characterization of brain aspartoacylase.
Topics: Amidohydrolases; Amino Acid Substitution; Animals; Aspartic Acid; Brain; Canavan Disease; Cobalt; Hu | 2003 |
Metabolic changes in the knockout mouse for Canavan's disease: implications for patients with Canavan's disease.
Topics: Animals; Aspartate Aminotransferases; Aspartic Acid; Body Weight; Canavan Disease; Disease Models, A | 2003 |
Mild elevation of N-acetylaspartic acid and macrocephaly: diagnostic problem.
Topics: Adolescent; Aspartic Acid; Brain; Canavan Disease; Humans; Male | 2003 |
Rapid and sensitive screening for and chemical diagnosis of Canavan disease by gas chromatography-mass spectrometry.
Topics: Aspartic Acid; Canavan Disease; Case-Control Studies; Child; Child, Preschool; Female; Gas Chromatog | 2004 |
[A case of Canavan-Van Bogaert-Bertrand leukodystrophy].
Topics: Amidohydrolases; Aspartic Acid; Brain; Canavan Disease; Child, Preschool; Humans; Magnetic Resonance | 2004 |
Defective N-acetylaspartate catabolism reduces brain acetate levels and myelin lipid synthesis in Canavan's disease.
Topics: Acetic Acid; Amidohydrolases; Animals; Aspartic Acid; Base Sequence; Brain; Canavan Disease; DNA; Hu | 2005 |
Defective N-acetylaspartate catabolism reduces brain acetate levels and myelin lipid synthesis in Canavan's disease.
Topics: Acetic Acid; Amidohydrolases; Animals; Aspartic Acid; Base Sequence; Brain; Canavan Disease; DNA; Hu | 2005 |
Defective N-acetylaspartate catabolism reduces brain acetate levels and myelin lipid synthesis in Canavan's disease.
Topics: Acetic Acid; Amidohydrolases; Animals; Aspartic Acid; Base Sequence; Brain; Canavan Disease; DNA; Hu | 2005 |
Defective N-acetylaspartate catabolism reduces brain acetate levels and myelin lipid synthesis in Canavan's disease.
Topics: Acetic Acid; Amidohydrolases; Animals; Aspartic Acid; Base Sequence; Brain; Canavan Disease; DNA; Hu | 2005 |
Restoration of aspartoacylase activity in CNS neurons does not ameliorate motor deficits and demyelination in a model of Canavan disease.
Topics: Amidohydrolases; Animals; Aspartic Acid; Canavan Disease; Central Nervous System; Dependovirus; Dise | 2005 |
Effects of AAV-2-mediated aspartoacylase gene transfer in the tremor rat model of Canavan disease.
Topics: Amidohydrolases; Analysis of Variance; Animals; Aspartic Acid; Behavior, Animal; Brain; Canavan Dise | 2005 |
Dietary treatment proposed for Canavan's disease.
Topics: Acetates; Amidohydrolases; Animals; Aspartic Acid; Brain; Canavan Disease; Dietary Supplements; Food | 2005 |
Absolute configuration of N-acetylaspartate in urine from patients with Canavan disease.
Topics: Aspartic Acid; Canavan Disease; Humans; Magnetic Resonance Spectroscopy; Molecular Conformation; Ste | 2005 |
Progress toward acetate supplementation therapy for Canavan disease: glyceryl triacetate administration increases acetate, but not N-acetylaspartate, levels in brain.
Topics: Acetates; Animals; Aspartic Acid; Brain; Calcium Compounds; Canavan Disease; Liver; Male; Mice; Mice | 2005 |
Progress toward acetate supplementation therapy for Canavan disease: glyceryl triacetate administration increases acetate, but not N-acetylaspartate, levels in brain.
Topics: Acetates; Animals; Aspartic Acid; Brain; Calcium Compounds; Canavan Disease; Liver; Male; Mice; Mice | 2005 |
Progress toward acetate supplementation therapy for Canavan disease: glyceryl triacetate administration increases acetate, but not N-acetylaspartate, levels in brain.
Topics: Acetates; Animals; Aspartic Acid; Brain; Calcium Compounds; Canavan Disease; Liver; Male; Mice; Mice | 2005 |
Progress toward acetate supplementation therapy for Canavan disease: glyceryl triacetate administration increases acetate, but not N-acetylaspartate, levels in brain.
Topics: Acetates; Animals; Aspartic Acid; Brain; Calcium Compounds; Canavan Disease; Liver; Male; Mice; Mice | 2005 |
Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism.
Topics: Adolescent; Adult; Amino Acids; Amniotic Fluid; Aspartic Acid; Canavan Disease; Child; Child, Presch | 2005 |
Lithium citrate for Canavan disease.
Topics: Aspartic Acid; Brain; Canavan Disease; Citrates; Female; Humans; Infant; Magnetic Resonance Spectros | 2005 |
Atypical MRI findings in Canavan disease: a patient with a mild course.
Topics: Aspartic Acid; Bacterial Proteins; Canavan Disease; Child, Preschool; Chromosomes, Human, Pair 7; Cy | 2005 |
Mild-onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene.
Topics: Adult; Alanine; Amidohydrolases; Aspartic Acid; Canavan Disease; DNA Mutational Analysis; Female; Gl | 2006 |
Regulation of NAA-synthesis in the human brain in vivo: Canavan's disease, Alzheimer's disease and schizophrenia.
Topics: Alzheimer Disease; Aspartic Acid; Brain; Canavan Disease; Child; Glutamic Acid; Humans; Magnetic Res | 2006 |
Natural history of Canavan disease revealed by proton magnetic resonance spectroscopy (1H-MRS) and diffusion-weighted MRI.
Topics: Age Factors; Aspartic Acid; Atrophy; Brain; Canavan Disease; Case-Control Studies; Child, Preschool; | 2006 |
Structure of aspartoacylase, the brain enzyme impaired in Canavan disease.
Topics: Amidohydrolases; Animals; Aspartic Acid; Canavan Disease; Catalytic Domain; Child; Crystallography, | 2007 |
[Canavan disease or N-acetyl aspartic aciduria: a case report].
Topics: Aspartic Acid; Brain; Canavan Disease; Diagnosis, Differential; Gas Chromatography-Mass Spectrometry | 2007 |
The impact of structural biology on neurobiology.
Topics: Amidohydrolases; Animals; Aspartic Acid; Canavan Disease; Humans; Molecular Structure; Mutation; Neu | 2007 |
Restricted diffusion in Canavan disease.
Topics: Amidohydrolases; Aspartic Acid; Canavan Disease; Diffusion Magnetic Resonance Imaging; Humans; Infan | 2007 |
Quantification of N-acetylaspartic acid in urine by LC-MS/MS for the diagnosis of Canavan disease.
Topics: Aspartic Acid; Canavan Disease; Child; Child, Preschool; Chromatography, Liquid; Female; Humans; Hyd | 2007 |
Homozygosity for mutation G212A of the gene for aspartoacylase is associated with atypical form of Canavan's disease.
Topics: Alanine; Amidohydrolases; Amino Acid Substitution; Aspartic Acid; Canavan Disease; Child, Preschool; | 2008 |
[Magnetic resonance tomography and localized proton spectroscopy in 2 siblings with Canavan's disease].
Topics: Aspartic Acid; Brain; Canavan Disease; Child, Preschool; Choline; Chromatography, Gas; Creatine; Hum | 1995 |
Prenatal detection of Canavan disease (aspartoacylase deficiency) by DNA analysis.
Topics: Amidohydrolases; Amniotic Fluid; Aspartic Acid; Base Sequence; Canavan Disease; DNA; Female; Humans; | 1994 |
N-acetylaspartylglutamate selectively inhibits neuronal responses to N-methyl-D-aspartic acid in vitro.
Topics: Animals; Aspartic Acid; Canavan Disease; Cell Survival; Cells, Cultured; Cerebellum; Culture Media; | 1994 |
Magnetic resonance imaging in juvenile Canavan disease.
Topics: Amidohydrolases; Aspartic Acid; Brain; Canavan Disease; Child; Child, Preschool; Choline; Corpus Str | 1993 |
Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): comparison of enzymatic and metabolite analysis.
Topics: Amniotic Fluid; Aspartic Acid; Canavan Disease; Female; Fetal Diseases; Humans; Pregnancy; Prenatal | 1993 |
Prenatal detection of Canavan disease by measurement of N-acetyl-L-aspartate in amniotic fluid.
Topics: Adult; Amniotic Fluid; Aspartic Acid; Canavan Disease; Female; Humans; Pregnancy; Prenatal Diagnosis | 1993 |
Case 15-1998: elevated N-acetylaspartic acid activity in Canavan's disease.
Topics: Aspartic Acid; Canavan Disease; Humans | 1998 |
Imaging studies in a unique familial dysmyelinating disorder.
Topics: Adolescent; Adult; Aspartic Acid; Brain; Canavan Disease; Cerebellar Diseases; Cerebral Cortex; Chol | 1998 |
In vivo quantitation of cerebral metabolite concentrations using natural abundance 13C MRS at 1.5 T.
Topics: Aspartic Acid; Brain; Canavan Disease; Carbon Isotopes; Child; Child, Preschool; Glutamic Acid; Glut | 1999 |
Protracted course of N-acetylaspartic aciduria in two non-Jewish siblings: identical clinical and magnetic resonance imaging findings.
Topics: Aspartic Acid; Brain; Canavan Disease; Child, Preschool; Ethnicity; Evoked Potentials, Auditory, Bra | 1999 |
Prenatal diagnosis of Canavan disease--problems and dilemmas.
Topics: Amidohydrolases; Amniotic Fluid; Aspartic Acid; Canavan Disease; Female; Fetal Diseases; Humans; Inf | 1999 |
The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients.
Topics: Amidohydrolases; Aspartic Acid; Canavan Disease; Humans; Jews; Mutation | 1999 |
Novel splice site mutation of aspartoacylase gene in a Turkish patient with Canavan disease.
Topics: Amidohydrolases; Aspartic Acid; Canavan Disease; Child, Preschool; Chromosome Aberrations; Chromosom | 2000 |
Murine aspartoacylase: cloning, expression and comparison with the human enzyme.
Topics: Acetylation; Amides; Amidohydrolases; Amino Acid Sequence; Animals; Asparagine; Aspartic Acid; Canav | 2000 |
Effects of ethanol and of alcohol dehydrogenase inhibitors on the reduction of N-acetylaspartate levels of brain in mice in vivo: a search for substances that may have therapeutic value in the treatment of Canavan disease.
Topics: Alcohol Dehydrogenase; Animals; Aspartic Acid; Brain; Canavan Disease; Enzyme Inhibitors; Ethanol; M | 2000 |
1-(13)C glucose magnetic resonance spectroscopy of pediatric and adult brain disorders.
Topics: Adolescent; Adult; Aged; Aspartic Acid; Brain; Brain Diseases; Canavan Disease; Carbon Isotopes; Chi | 2001 |
Intraneuronal N-acetylaspartate supplies acetyl groups for myelin lipid synthesis: evidence for myelin-associated aspartoacylase.
Topics: Amidohydrolases; Animals; Aspartic Acid; Axonal Transport; Brain; Canavan Disease; Carbon Radioisoto | 2001 |
[Canavan disease].
Topics: Aspartic Acid; Brain; Canavan Disease; Consanguinity; Humans; Infant; Inositol; Magnetic Resonance I | 2001 |
The effects of lithium chloride and other substances on levels of brain N-acetyl-L-aspartic acid in Canavan disease-like rats.
Topics: Animals; Aspartic Acid; Blood-Brain Barrier; Brain; Canavan Disease; Disease Models, Animal; Lithium | 2002 |