133 related articles for article (PubMed ID: 38309148)
1. Human induced pluripotent stem cell line (SDQLCHi064-A) derived from a patient with Canavan disease carrying c.556_559dup GTTC and c.919delA mutations in the ASPA gene.
Liu N; Ge Y; Yang Y; Zhao F; Lv Y; Li Z; Dong R; Liu Y; Gai Z
Stem Cell Res; 2024 Apr; 76():103325. PubMed ID: 38309148
[TBL] [Abstract][Full Text] [Related]
2. [Clinical and genetic analysis of a child with Canavan disease due to compound heterozygous variants of ASPA gene].
Niu S; Ma Y; Lyu Y; Xin H; Wang D; Wang Y; Yang Y; Li Z; Liu Y; Gai Z
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Feb; 41(2):225-229. PubMed ID: 38311564
[TBL] [Abstract][Full Text] [Related]
3. NAAG synthetase deficiency has only low influence on pathogenesis in a Canavan disease mouse model.
Becker I; Wang-Eckhardt L; Eckhardt M
J Inherit Metab Dis; 2024 Mar; 47(2):230-243. PubMed ID: 38011891
[TBL] [Abstract][Full Text] [Related]
4. Knock-out mouse for Canavan disease: a model for gene transfer to the central nervous system.
Matalon R; Rady PL; Platt KA; Skinner HB; Quast MJ; Campbell GA; Matalon K; Ceci JD; Tyring SK; Nehls M; Surendran S; Wei J; Ezell EL; Szucs S
J Gene Med; 2000; 2(3):165-75. PubMed ID: 10894262
[TBL] [Abstract][Full Text] [Related]
5. A mutation of aspartoacylase gene in a Turkish patient with Canavan disease.
Eke GH; Iscan A; Cece H; Calik M
Genet Couns; 2012; 23(1):9-12. PubMed ID: 22611636
[TBL] [Abstract][Full Text] [Related]
6. Canavan disease: studies on the knockout mouse.
Matalon R; Michals-Matalon K; Surendran S; Tyring SK
Adv Exp Med Biol; 2006; 576():77-93; discussion 361-3. PubMed ID: 16802706
[TBL] [Abstract][Full Text] [Related]
7. New T530C mutation in the aspartoacylase gene caused Canavan disease with no correlation between severity and N-acetylaspartate excretion.
Di Pietro V; Cavallari U; Amorini AM; Lazzarino G; Longo S; Poggiani C; Cavalli P; Tavazzi B
Clin Biochem; 2013 Dec; 46(18):1902-4. PubMed ID: 24036223
[TBL] [Abstract][Full Text] [Related]
8. N-Acetylaspartate Synthase Deficiency Corrects the Myelin Phenotype in a Canavan Disease Mouse Model But Does Not Affect Survival Time.
Maier H; Wang-Eckhardt L; Hartmann D; Gieselmann V; Eckhardt M
J Neurosci; 2015 Oct; 35(43):14501-16. PubMed ID: 26511242
[TBL] [Abstract][Full Text] [Related]
9. Novel mutation in an Egyptian patient with infantile Canavan disease.
Zaki OK; El Abd HS; Mohamed SA; Zayed H
Metab Brain Dis; 2016 Jun; 31(3):573-7. PubMed ID: 26613958
[TBL] [Abstract][Full Text] [Related]
10. Canavan disease: clinical features and recent advances in research.
Hoshino H; Kubota M
Pediatr Int; 2014 Aug; 56(4):477-83. PubMed ID: 24977939
[TBL] [Abstract][Full Text] [Related]
11. Nur7 is a nonsense mutation in the mouse aspartoacylase gene that causes spongy degeneration of the CNS.
Traka M; Wollmann RL; Cerda SR; Dugas J; Barres BA; Popko B
J Neurosci; 2008 Nov; 28(45):11537-49. PubMed ID: 18987190
[TBL] [Abstract][Full Text] [Related]
12. Cell-Based Therapy for Canavan Disease Using Human iPSC-Derived NPCs and OPCs.
Feng L; Chao J; Tian E; Li L; Ye P; Zhang M; Chen X; Cui Q; Sun G; Zhou T; Felix G; Qin Y; Li W; Meza ED; Klein J; Ghoda L; Hu W; Luo Y; Dang W; Hsu D; Gold J; Goldman SA; Matalon R; Shi Y
Adv Sci (Weinh); 2020 Dec; 7(23):2002155. PubMed ID: 33304759
[TBL] [Abstract][Full Text] [Related]
13. Aspartoacylase-lacZ knockin mice: an engineered model of Canavan disease.
Mersmann N; Tkachev D; Jelinek R; Röth PT; Möbius W; Ruhwedel T; Rühle S; Weber-Fahr W; Sartorius A; Klugmann M
PLoS One; 2011; 6(5):e20336. PubMed ID: 21625469
[TBL] [Abstract][Full Text] [Related]
14. Uncoupling N-acetylaspartate from brain pathology: implications for Canavan disease gene therapy.
von Jonquieres G; Spencer ZHT; Rowlands BD; Klugmann CB; Bongers A; Harasta AE; Parley KE; Cederholm J; Teahan O; Pickford R; Delerue F; Ittner LM; Fröhlich D; McLean CA; Don AS; Schneider M; Housley GD; Rae CD; Klugmann M
Acta Neuropathol; 2018 Jan; 135(1):95-113. PubMed ID: 29116375
[TBL] [Abstract][Full Text] [Related]
15. Upregulation of N-acetylaspartic acid resulting nitric oxide toxicity induces aspartoacylase mutations and protein interaction to cause pathophysiology seen in Canavan disease.
Surendran S
Med Hypotheses; 2010 Dec; 75(6):533-4. PubMed ID: 20673702
[TBL] [Abstract][Full Text] [Related]
16. Adeno-associated virus-mediated aspartoacylase gene transfer to the brain of knockout mouse for canavan disease.
Matalon R; Surendran S; Rady PL; Quast MJ; Campbell GA; Matalon KM; Tyring SK; Wei J; Peden CS; Ezell EL; Muzyczka N; Mandel RJ
Mol Ther; 2003 May; 7(5 Pt 1):580-7. PubMed ID: 12718900
[TBL] [Abstract][Full Text] [Related]
17. Comparative computational assessment of the pathogenicity of mutations in the Aspartoacylase enzyme.
George Priya Doss C; Zayed H
Metab Brain Dis; 2017 Dec; 32(6):2105-2118. PubMed ID: 28879565
[TBL] [Abstract][Full Text] [Related]
18. The pathogenesis of, and pharmacological treatment for, Canavan disease.
Wei H; Moffett JR; Amanat M; Fatemi A; Tsukamoto T; Namboodiri AM; Slusher BS
Drug Discov Today; 2022 Sep; 27(9):2467-2483. PubMed ID: 35636725
[TBL] [Abstract][Full Text] [Related]
19. Severe retinal degeneration in a patient with Canavan disease.
Benson MD; Plemel DJA; Freund PR; Lewis JR; Sass JO; Bähr L; Gemperle-Britschgi C; Ferreira P; MacDonald IM
Ophthalmic Genet; 2021 Feb; 42(1):75-78. PubMed ID: 32975148
[No Abstract] [Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]