n-acetylaspartic acid has been researched along with Canavan Disease in 91 studies
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 19 (20.88) | 18.2507 |
| 2000's | 44 (48.35) | 29.6817 |
| 2010's | 24 (26.37) | 24.3611 |
| 2020's | 4 (4.40) | 2.80 |
| Authors | Studies |
|---|---|
| Baer, CE; Eyles, SJ; Gao, G; Gessler, DJ; Hayward, LJ; Li, D; Lotun, A; Mooney, M; Sanmiguel, J; Strittmatter, L; Su, Q; Tuncer, S; Ulbrich, R; Xu, H | 1 |
| Burns, T; Guo, F; Hull, V; McDonough, J; Pleasure, D; Sternbach, S; Wang, Y; Zhang, S | 1 |
| Kocak, A; Yildiz, M | 1 |
| Bongers, A; Cederholm, J; Delerue, F; Don, AS; Fröhlich, D; Harasta, AE; Housley, GD; Ittner, LM; Klugmann, CB; Klugmann, M; McLean, CA; Parley, KE; Pickford, R; Rae, CD; Rowlands, BD; Schneider, M; Spencer, ZHT; Teahan, O; von Jonquieres, G | 1 |
| Bannerman, P; Burns, T; Chechneva, O; Guo, F; Hull, V; McDonough, J; Pleasure, D; Wang, Y | 1 |
| Dahal, GP; Mutthamsetty, V; Viola, RE; Wang, Q | 1 |
| Ahmed, SS; Gao, G | 1 |
| Amorini, AM; Cavallari, U; Cavalli, P; Di Pietro, V; Lazzarino, G; Longo, S; Poggiani, C; Tavazzi, B | 1 |
| Francis, JS; Leone, P; Markov, V | 1 |
| Banasik, T; Jamroz, E; Kiełtyka, A; Konopka, M; Paprocka, J; Skorupa, A; Sokół, M; Wicher, M | 1 |
| Drenckhahn, A; Knierim, E; Schuelke, M | 1 |
| Bannerman, P; Burns, T; Freeman, E; Guo, F; Li, S; McDonough, JA; Miers, L; Mills Ko, E; Pleasure, D; Xu, J | 1 |
| Buono, S; De Bernardo, G; Giordano, M; Sordino, D | 1 |
| Eckhardt, M; Gieselmann, V; Hartmann, D; Maier, H; Wang-Eckhardt, L | 1 |
| Boespflug-Tanguy, O; Rodriguez, D; Sarret, C | 1 |
| Bilaniuk, LT; De Vivo, DC; Francis, JS; Gray, SJ; Janson, CG; Leone, P; Markov, V; McCown, TJ; Samulski, RJ; Wang, DJ; Wojtas, I | 1 |
| Bannerman, P; Burns, T; Croteau, C; Guo, F; McDonough, JA; Miers, L; Pleasure, D; Singhal, NK; Sohn, J | 1 |
| Anogianakis, G; Bostantjopoulou, S; Geroukis, T; Kapina, V; Kazis, D; Kimiskidis, VK; Koutsonikolas, D; Kouvatsou, Z; Papagiannopoulos, S; Papaliagkas, V; Tsatsali-Foroglou, E; Zafeiriou, D | 1 |
| Gao, G; Gessler, DJ; King, J; Li, D; Matalon, R; Moore, C; Sanmiguel, J; Su, Q; Tuncer, S; Xu, H | 1 |
| Barres, BA; Cerda, SR; Dugas, J; Popko, B; Traka, M; Wollmann, RL | 1 |
| Ahmad, AM; Al-Dirbashi, OY; Al-Nemer, M; Al-Sayed, M; Imtiaz, F; Kurdi, W; Rashed, MS; Tulbah, M | 1 |
| 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 | 1 |
| Baslow, MH; Guilfoyle, DN | 2 |
| Attwell, D; Hamilton, NB; Káradóttir, R; Kolodziejczyk, K; Wade, A | 1 |
| Hamaguchi, H; Hoshino, H; Kubota, M; Mizuguchi, K | 1 |
| Assadi, M; Bilaniuk, L; Goldfarb, O; Janson, C; Leone, P; Suri, N; Wang, DJ | 1 |
| 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 | 1 |
| Anikster, Y; Ariyannur, PS; Arun, P; Denu, JM; Gahl, WA; Grunberg, NE; Hallows, WC; Hamilton, K; Madhavarao, CN; Moffett, JR; Mog, S; Namboodiri, AM | 1 |
| Surendran, S | 1 |
| Francis, JS; Leone, P; Markov, V; Strande, L | 1 |
| Purushothaman, KK; Sreenivasan, P | 1 |
| Malik, R; Smith, J; Viola, RE; Wijayasinghe, YS; Zano, S | 1 |
| 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 | 1 |
| Jacobowitz, DM; Kallarakal, AT; Kirmani, BF; Namboodiri, MA | 1 |
| Faehnle, CR; Le Coq, J; Moore, RA; Viola, RE | 1 |
| Baslow, MH | 4 |
| Bamforth, FJ; Chan, A; Goodman, SI; Matalon, R; Surendran, S; Tyring, SK | 1 |
| Inoue, Y; Kuhara, T | 1 |
| Bembeeva, RTs; Bukina, AM; Fedoniuk, ID; Il'ina, ES; Mikhaĭlova, SV; Petrukhin, AS; Pokrovskaia, AIa; Zakharova, EIu | 1 |
| Arun, P; Garbern, J; Hristova, D; Jiang, W; Johnson, A; Madhavarao, CN; Matalon, R; Moffett, JR; Namboodiri, MA; Surendran, S; Szucs, S | 1 |
| During, MJ; Klugmann, M; Leichtlein, CB; Serikawa, T; Symes, CW; Young, D | 1 |
| Francis, J; Freese, A; Hyland, K; Janson, CG; Leone, P; McPhee, SW; Ong, EO; Raghavan, SS; Serikawa, T | 1 |
| Chen, V | 1 |
| Bal, D; Gradowska, W; Gryff-Keller, A | 1 |
| Arun, P; Madhavarao, CN; Mathew, R; Moffett, JR; Namboodiri, MA | 1 |
| Amorini, AM; Bellia, F; Ceccarelli, L; Di Pietro, V; Donzelli, S; Francis, JS; Giardina, B; Janson, CG; Lazzarino, G; Leone, P; Tavazzi, B | 1 |
| Assadi, M; Bilaniuk, L; Francis, J; Janson, CG; Leone, P; Shera, D | 1 |
| Benbir, G; Jakobs, C; Karaarslan, E; Rolland, MO; Salomons, GS; van der Knaap, MS; Yalcinkaya, C | 1 |
| Assadi, M; Bilaniuk, L; Freese, A; Goldfarb, O; Janson, CG; Kolodny, EH; Leone, P; McPhee, S; Pastores, G; Raghavan, S; Saslow, B; Shera, D; Torres, P; Wang, DJ; Zeng, BJ | 1 |
| Hershfield, J; Madhavarao, CN; Mathew, R; Moffett, JR; Namboodiri, AM; Peethambaran, A; Sambhu, PA | 1 |
| Moffett, JR; Namboodiri, AM | 1 |
| Arun, P; Hershfield, J; Jacobowitz, DM; Kirmani, B; Madhavarao, CN; Mathew, R; Moffett, JR; Namboodiri, AM; Namboodiri, S; Potti, A | 1 |
| Bhattacharya, P; Harris, K; Lin, A; Ross, B; Tran, T; Wong, W | 1 |
| Assadi, M; Bilaniuk, L; Francis, J; Freese, A; Haselgrove, J; Hurh, P; Janson, CG; Leone, P; McPhee, SW; Shera, D; Wang, DJ | 1 |
| Bingman, CA; Bitto, E; McCoy, JG; Phillips, GN; Wesenberg, GE | 1 |
| Boughamoura, L; Chaabane, F; Chabchoub, I; Essoussi, AS; Kabachi, N; Tilouche, S; Tlili, K; Yacoub, M | 1 |
| Viola, RE | 1 |
| Arun, P; Madhavarao, CN; Moffett, JR; Namboodiri, AM; Ross, B | 1 |
| Al-Dirbashi, OY; Al-Mokhadab, MA; Al-Qahtani, K; Al-Sayed, MA; Kurdi, W; Rashed, MS | 1 |
| Styles, J; Velinov, M; Wisniewski, K; Zellers, N | 1 |
| Engelbrecht, V; Gärtner, J; Kahn, T; Mödder, U; Rassek, M | 1 |
| Kaul, R; Matalon, R; Michals, K | 1 |
| Anikster, Y; Elpeleg, ON; Jakobs, C; Shaag, A | 1 |
| Burlina, AB; Burlina, AP; Ferrari, V; Leon, A; Mazza, MR; Skaper, SD | 1 |
| Christensen, E; Geiss-Holtorff, R; Hennig, J; Lehnert, W; Lou, HC; Müller-Forell, W; Ott, D; Pryds, O; Rolland, MO; Toft, PB | 1 |
| Bennett, MJ; Divry, P; Elpeleg, ON; Gibson, KM; Jakobs, C; Rinaldo, P; Rolland, MO; Sherwood, WG | 1 |
| Kelley, RI | 1 |
| Baslow, MH; Resnik, TR | 1 |
| Breslau, J | 1 |
| Duhaime, AC; Gripp, KW; Molloy, PT; Muenke, M; Rorke, LB; Schut, L; Tucker, SH; Wang, ZJ; Zackai, EH; Zimmerman, RA | 1 |
| Blüml, S | 1 |
| Anastasiou, AL; Augoustidou-Savvopoulou, P; Fagan, E; Kleijer, WJ; Kontopoulos, EE; Maroupoulos, G; Papadopoulou, F; Payne, S; Zafeiriou, DI | 1 |
| Besley, GT; Elpeleg, ON; Jakobs, C; Manning, NJ; Shaag, A; Walter, JH | 1 |
| Elpeleg, ON; Shaag, A | 1 |
| Matalon, R | 1 |
| Matalon, R; Michals-Matalon, K | 2 |
| Matalon, R; Penzien, JM; Rady, PL; Tyring, SK; Vargas, T | 1 |
| Corigliano-Murphy, A; Jiang, G; Namboodiri, MA; Provencio, I; Rollag, M | 1 |
| Baslow, MH; Hungund, BL; Suckow, RF | 1 |
| Blüml, S; Moreno, A; Ross, BD | 1 |
| Chakraborty, G; Ledeen, RW; Mekala, P; Wu, G; Yahya, D | 1 |
| Gordon, N | 1 |
| Kobayashi, K; Tsujino, S | 1 |
| Harting, I; Seitz, A | 1 |
| During, MJ; Janson, CG; Leone, P; McPhee, SJ | 1 |
| Baslow, MH; Hungund, BL; Kitada, K; Serikawa, T; Suckow, RF | 1 |
16 review(s) available for n-acetylaspartic acid and Canavan Disease
| 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; Membrane Transport Proteins; Neurons; Oligodendroglia; Water-Electrolyte Balance | 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; Myelin Basic Protein | 2006 |
Preface: a brief review of N-acetylaspartate.
Topics: Animals; Aspartic Acid; Canavan Disease; Dipeptides; Energy Metabolism; Humans; Magnetic Resonance Spectroscopy; Myelin Sheath; Neurons; Osmolar Concentration | 2006 |
Defective myelin lipid synthesis as a pathogenic mechanism of Canavan disease.
Topics: Acetates; Acetyltransferases; Amidohydrolases; Animals; Aspartic Acid; Canavan Disease; Humans; Lipid Metabolism; Myelin Sheath | 2006 |
N-Acetylaspartate in the CNS: from neurodiagnostics to neurobiology.
Topics: Animals; Aspartic Acid; Canavan Disease; Central Nervous System; Energy Metabolism; Humans; Lipid Metabolism; Metabolic Networks and Pathways | 2007 |
Canavan disease: from spongy degeneration to molecular analysis.
Topics: Age of Onset; Aspartic Acid; Brain; Canavan Disease; Child; Diagnosis, Differential; Humans; Jews; Magnetic Resonance Imaging; Male; Muscle Hypotonia; Nerve Degeneration; Prenatal Diagnosis; Survival Rate | 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 Diseases; Histidine; Humans; Pregnancy | 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; Gene Frequency; Genetic Carrier Screening; Genetic Testing; Humans; Jews; Male; Mutation; Pregnancy; Prenatal Diagnosis | 1997 |
Recent advances in Canavan disease.
Topics: Amidohydrolases; Animals; Aspartic Acid; Canavan Disease; Child; Diagnosis, Differential; Disease Models, Animal; Genetic Counseling; Genetic Testing; Genotype; Humans; Jews; Magnetic Resonance Imaging; Mutation; Phenotype | 1999 |
Molecular basis of Canavan disease.
Topics: Alleles; Amidohydrolases; Aspartic Acid; Canavan Disease; DNA Mutational Analysis; Humans; Incidence; Jews; Life Expectancy; Magnetic Resonance Imaging; Mutation; United States | 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, Newborn; Pregnancy; Prenatal Diagnosis; Prognosis | 2001 |
[Canavan disease (aspartoacylase deficiency)].
Topics: Amidohydrolases; Aspartic Acid; Brain; Canavan Disease; Diagnosis, Differential; Humans; Mutation; Prognosis | 2001 |
Global CNS gene transfer for a childhood neurogenetic enzyme deficiency: Canavan disease.
Topics: Acetates; Acetazolamide; Amidohydrolases; Animals; Aspartic Acid; Brain; Brain Edema; Calcium Compounds; Canavan Disease; Child; Child, Preschool; Cholesterol; Combined Modality Therapy; Cytomegalovirus; Dependovirus; DNA, Recombinant; Female; Fetal Diseases; Genetic Therapy; Genetic Vectors; Glycerophospholipids; Humans; Infant; Injections, Intraventricular; Liposomes; Male; Mitochondria; Nerve Tissue Proteins; Osmotic Pressure; Phosphatidylethanolamines; Prenatal Diagnosis; Primates; Promoter Regions, Genetic; Protamines; Rats | 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; Cell Compartmentation; Child; Child, Preschool; Energy Metabolism; Glucose; Humans; Ion Channel Gating; Membrane Potentials; Nerve Fibers, Myelinated; Nerve Tissue Proteins; Neurons; Osmolar Concentration | 2002 |
1 trial(s) available for n-acetylaspartic acid and Canavan Disease
| 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; Glucose; Glutamic Acid; Humans; Infusions, Intravenous; Intubation, Gastrointestinal; Magnetic Resonance Spectroscopy; Predictive Value of Tests | 2001 |
74 other study(ies) available for n-acetylaspartic acid and Canavan Disease
| Article | Year |
|---|---|
Renewal of oligodendrocyte lineage reverses dysmyelination and CNS neurodegeneration through corrected N-acetylaspartate metabolism.
Topics: Animals; Canavan Disease; Cell Lineage; Central Nervous System; Epigenesis, Genetic; Mammals; Mice; Myelin Sheath; Oligodendroglia | 2023 |
Antisense Oligonucleotide Reverses Leukodystrophy in Canavan Disease Mice.
Topics: Acetyltransferases; Amidohydrolases; Animals; Aspartic Acid; Ataxia; Atrophy; Canavan Disease; Cerebellum; Female; Gene Knockdown Techniques; Infusions, Intraventricular; Male; Mice; Mutation; Oligonucleotides, Antisense; Purkinje Cells; Rotarod Performance Test; Thalamus; Vacuoles | 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; Molecular Docking Simulation; Molecular Dynamics Simulation; Mutation, Missense; Protein Binding; Thermodynamics | 2017 |
Uncoupling N-acetylaspartate from brain pathology: implications for Canavan disease gene therapy.
Topics: Acetyltransferases; Amidohydrolases; Animals; Aspartic Acid; Brain; Canavan Disease; Disease Models, Animal; Evoked Potentials, Auditory, Brain Stem; Evoked Potentials, Visual; Female; Genetic Therapy; Humans; Male; Mice, Transgenic; Neurons; Oligodendroglia; Phenotype; RNA, Messenger | 2018 |
Pathophysiology and Treatment of Canavan Disease.
Topics: Acetyltransferases; Amidohydrolases; Animals; Aspartic Acid; Astrocytes; Canavan Disease; Cerebellum; Gene Knockout Techniques; Humans; Mice; Oligodendroglia; RNA, Small Interfering; Symporters; Transduction, Genetic | 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 Inhibitors; Humans; Maltose; Protein Binding; Recombinant Fusion Proteins | 2020 |
Gene therapy for Canavan's disease takes a step forward.
Topics: Amidohydrolases; Aspartic Acid; Canavan Disease; Dependovirus; Genetic Therapy; Genetic Vectors; Humans; Recombination, Genetic | 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; Magnetic Resonance Imaging; Mutation, Missense | 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, Animal; Mice; Myelin Sheath; Oligodendroglia; Triglycerides | 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, Preschool; Diagnosis, Computer-Assisted; Female; Humans; In Vitro Techniques; Longitudinal Studies; Male; Middle Aged; Proton Magnetic Resonance Spectroscopy; Reproducibility of Results; Sensitivity and Specificity; Translational Research, Biomedical; Young Adult | 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; Child, Preschool; Humans; Magnetic Resonance Imaging; Male; Skull | 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 Spectroscopy | 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 Disease; Enzyme Inhibitors; Female; Genotype; Gliosis; Male; Mice; Mice, Inbred C57BL; Mice, Knockout; Myelin Sheath; Nerve Degeneration; Sphingolipids; Survival Analysis | 2015 |
Atypical clinical and radiological course of a patient with Canavan disease.
Topics: Amidohydrolases; Aspartic Acid; Brain; Canavan Disease; Child; Female; Humans; Magnetic Resonance Imaging | 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 Transcription Factors; Brain; Canavan Disease; Child; Child, Preschool; Dependovirus; Disease Progression; Energy Metabolism; Female; Gene Expression Regulation; Green Fluorescent Proteins; HEK293 Cells; Humans; Infant; Intracellular Signaling Peptides and Proteins; Male; Mice; Mice, Transgenic; Movement Disorders; Myelin Basic Protein; Myelin Sheath; Neurodegenerative Diseases; Oligodendroglia | 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 C57BL; Mice, Knockout; Neurons | 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 Potentials, Motor; Female; Humans; Internal Capsule; Pyramidal Tracts; Siblings; Thalamus; Transcranial Magnetic Stimulation | 2017 |
Redirecting
Topics: Amidohydrolases; Animals; Aspartic Acid; Blood-Brain Barrier; Canavan Disease; Central Nervous System; Dependovirus; Disease Models, Animal; Genetic Therapy; Genetic Vectors; Humans; Mice; Oligodendroglia | 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; Canavan Disease; Central Nervous System; Chromosome Mapping; Codon, Nonsense; Disease Models, Animal; Disease Progression; Glutamine; Lipid Metabolism; Magnetic Resonance Spectroscopy; Mice; Mice, Inbred C57BL; Mice, Transgenic; Myelin Sheath; N-Acylsphingosine Galactosyltransferase; Oligodendroglia | 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; Chromatography, Liquid; Female; Gestational Age; Humans; Mutation; Pregnancy; Prenatal Diagnosis; Reproducibility of Results; Risk Factors; Tandem Mass Spectrometry | 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 Cortex; Dipeptides; Disease Models, Animal; Glucosephosphate Dehydrogenase; Glutathione Peroxidase; Injections, Intraventricular; Lipid Peroxidation; Male; Neuropeptides; Neurotoxins; Oxidation-Reduction; Oxidative Stress; Rats; Rats, Wistar | 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 Models, Animal; Extracellular Fluid; Humans; Myelin Sheath | 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 Potentials; Glutamic Acid; Hydrolysis; Oligodendroglia; Patch-Clamp Techniques; Pelizaeus-Merzbacher Disease; Rats; Receptors, N-Methyl-D-Aspartate; Tissue Culture Techniques | 2009 |
[Long term clinical course of Canavan disease--a rare Japanese case].
Topics: Adult; Amidohydrolases; Asian People; Aspartic Acid; Biomarkers; Canavan Disease; Female; Humans; Magnetic Resonance Spectroscopy; Mutation; Time Factors; Young Adult | 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; Diffusion Magnetic Resonance Imaging; Female; Follow-Up Studies; Humans; Infant; Inositol; Magnetic Resonance Spectroscopy; Male; Severity of Illness Index | 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; Female; Glutathione Peroxidase; Hydrogen Peroxide; Oxidative Stress; Rats; Rats, Wistar; Superoxide Dismutase; Up-Regulation | 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; Heterozygote; Lipids; Male; Mutation; Myelin Sheath; Phenotype; Rats; Treatment Outcome | 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 Synthase Type II; Up-Regulation | 2010 |
Aspartoacylase supports oxidative energy metabolism during myelination.
Topics: Amidohydrolases; Animals; Aspartic Acid; Biomarkers; Canavan Disease; Cells, Cultured; Chromatography, High Pressure Liquid; Demyelinating Diseases; Dependovirus; Energy Metabolism; Glucose; Immunohistochemistry; Mice; Mice, Inbred C57BL; Mutation; Myelin Sheath; Oligodendroglia; Oxidation-Reduction; Oxidative Stress | 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; Mutation; Phenotype | 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; Osmosis; Signal Transduction; Water; Water-Electrolyte Balance | 2013 |
Long-term follow-up after gene therapy for canavan disease.
Topics: Aspartic Acid; Brain; Canavan Disease; Child; Child, Preschool; Genetic Therapy; Humans; Infant; Prospective Studies | 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; Cytoplasm; Mesencephalon; Myelin Sheath; Nerve Fibers, Myelinated; Oligodendroglia; Prosencephalon; Rats; Rats, Sprague-Dawley; Rhombencephalon; RNA, Messenger | 2002 |
Purification and preliminary characterization of brain aspartoacylase.
Topics: Amidohydrolases; Amino Acid Substitution; Animals; Aspartic Acid; Brain; Canavan Disease; Cobalt; Humans; In Vitro Techniques; Kinetics; Mice; Mutagenesis, Site-Directed; Point Mutation; Protein Processing, Post-Translational; Recombinant Proteins; Substrate Specificity; Zinc | 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 Chromatography-Mass Spectrometry; Humans; Infant; Infant, Newborn; Neonatal Screening; Pilot Projects | 2004 |
[A case of Canavan-Van Bogaert-Bertrand leukodystrophy].
Topics: Amidohydrolases; Aspartic Acid; Brain; Canavan Disease; Child, Preschool; Humans; Magnetic Resonance Imaging; Male | 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; Humans; Lipids; Male; Mice; Mice, Knockout; Models, Neurological; Myelin Sheath; Rats | 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; Disease Models, Animal; Female; Gene Expression; Male; Motor Neurons; Myelin Sheath; Rats; Seizures | 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 Disease; Dependovirus; Disease Models, Animal; Gene Transfer Techniques; Genetic Vectors; Glial Fibrillary Acidic Protein; Green Fluorescent Proteins; Immunohistochemistry; Locomotion; Phosphopyruvate Hydratase; Psychomotor Performance; Rats; Rats, Mutant Strains; Recombinant Proteins; Tremor | 2005 |
Dietary treatment proposed for Canavan's disease.
Topics: Acetates; Amidohydrolases; Animals; Aspartic Acid; Brain; Canavan Disease; Dietary Supplements; Food, Formulated; Humans; Lipids; Mice; Myelin Sheath; Oligodendroglia | 2005 |
Absolute configuration of N-acetylaspartate in urine from patients with Canavan disease.
Topics: Aspartic Acid; Canavan Disease; Humans; Magnetic Resonance Spectroscopy; Molecular Conformation; Stereoisomerism | 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, Inbred C57BL | 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, Preschool; Chromatography, High Pressure Liquid; Dicarboxylic Acids; Humans; Infant; Mass Screening; Metabolism, Inborn Errors; Middle Aged; Prenatal Diagnosis; Purines; Pyrimidines; Reproducibility of Results; Sensitivity and Specificity; Spectrophotometry, Ultraviolet | 2005 |
Lithium citrate for Canavan disease.
Topics: Aspartic Acid; Brain; Canavan Disease; Citrates; Female; Humans; Infant; Magnetic Resonance Spectroscopy; Myelin Sheath | 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; Cysteine; Female; Globus Pallidus; Humans; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Mutation; Serine Endopeptidases; Tyrosine | 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; Glycine; Humans; Magnetic Resonance Imaging; Middle Aged; Point Mutation; Siblings | 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 Resonance Imaging; Molecular Structure; Schizophrenia | 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; Confidence Intervals; Diffusion Magnetic Resonance Imaging; Dipeptides; Female; Humans; Infant; Magnetic Resonance Spectroscopy; Male; Protons; Reference Values | 2006 |
Structure of aspartoacylase, the brain enzyme impaired in Canavan disease.
Topics: Amidohydrolases; Animals; Aspartic Acid; Canavan Disease; Catalytic Domain; Child; Crystallography, X-Ray; Humans; Models, Molecular; Mutation, Missense; Protein Conformation; Protein Folding; Protein Structure, Tertiary; Rats; Recombinant Proteins; Static Electricity; Substrate Specificity; Zinc | 2007 |
[Canavan disease or N-acetyl aspartic aciduria: a case report].
Topics: Aspartic Acid; Brain; Canavan Disease; Diagnosis, Differential; Gas Chromatography-Mass Spectrometry; Humans; Infant; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Male | 2007 |
The impact of structural biology on neurobiology.
Topics: Amidohydrolases; Animals; Aspartic Acid; Canavan Disease; Humans; Molecular Structure; Mutation; Neurobiology; Rats; Substrate Specificity | 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; Hydrolysis; Infant; Infant, Newborn; Male; Mass Spectrometry; Models, Chemical; Reference Values; Urinalysis | 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; Female; Glycine; Homozygote; Humans; Magnetic Resonance Imaging; Mutation | 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; Humans; Infant; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Male; Phosphocreatine | 1995 |
Prenatal detection of Canavan disease (aspartoacylase deficiency) by DNA analysis.
Topics: Amidohydrolases; Amniotic Fluid; Aspartic Acid; Base Sequence; Canavan Disease; DNA; Female; Humans; Molecular Sequence Data; Pregnancy; Prenatal Diagnosis | 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; Dipeptides; Kainic Acid; Mice; Mice, Inbred BALB C; N-Methylaspartate; Neurons | 1994 |
Magnetic resonance imaging in juvenile Canavan disease.
Topics: Amidohydrolases; Aspartic Acid; Brain; Canavan Disease; Child; Child, Preschool; Choline; Corpus Striatum; Female; Humans; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Male; Myelin Proteins | 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 Diagnosis | 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; Choline; Creatine; Demyelinating Diseases; Diagnosis, Differential; Female; Genes, Dominant; Humans; Hydrocephalus; Infant; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Male; Middle Aged | 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; Glutamine; Humans; Hydrogen Bonding; Infant; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Sensitivity and Specificity; Spin Labels; Synaptic Transmission | 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, Brain Stem; Evoked Potentials, Motor; Evoked Potentials, Visual; Female; Humans; Jews; Magnetic Resonance Imaging; Neural Conduction | 1999 |
Prenatal diagnosis of Canavan disease--problems and dilemmas.
Topics: Amidohydrolases; Amniotic Fluid; Aspartic Acid; Canavan Disease; Female; Fetal Diseases; Humans; Infant; Male; Polymerase Chain Reaction; Pregnancy; Prenatal Diagnosis | 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; Chromosome Disorders; Consanguinity; Exons; Female; Genes, Recessive; Humans; Introns; Mutation; Pedigree; Polymorphism, Restriction Fragment Length; RNA Splicing; Sequence Analysis, DNA | 2000 |
Murine aspartoacylase: cloning, expression and comparison with the human enzyme.
Topics: Acetylation; Amides; Amidohydrolases; Amino Acid Sequence; Animals; Asparagine; Aspartic Acid; Canavan Disease; Chromatography, Affinity; Cloning, Molecular; Humans; Hydrolysis; Mice; Molecular Sequence Data; Recombinant Fusion Proteins; Sequence Alignment; Substrate Specificity | 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; Male; Mice; Pyrazoles | 2000 |
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 Radioisotopes; Cell Fractionation; Eye; Lipids; Myelin Sheath; Neurons; Optic Nerve; Rats; Visual Pathways | 2001 |
[Canavan disease].
Topics: Aspartic Acid; Brain; Canavan Disease; Consanguinity; Humans; Infant; Inositol; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Male | 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 Chloride; Male; Rats; Rats, Mutant Strains | 2002 |