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Items: 1 to 20 of 95

1.

Does ASPA gene mutation in Canavan disease alter oligodendrocyte development? A tissue culture study of ASPA KO mice brain.

Kumar S, Sowmyalakshmi R, Daniels SL, Chang R, Surendran S, Matalon R, de Vellis J.

Adv Exp Med Biol. 2006;576:175-82; discussion 361-3. No abstract available.

PMID:
16802712
2.

Lack of aspartoacylase activity disrupts survival and differentiation of neural progenitors and oligodendrocytes in a mouse model of Canavan disease.

Kumar S, Biancotti JC, Matalon R, de Vellis J.

J Neurosci Res. 2009 Nov 15;87(15):3415-27. doi: 10.1002/jnr.22233.

PMID:
19739253
3.

Aspartoacylase gene knockout in the mouse: impact on reproduction.

Surendran S, Szucs S, Tyring SK, Matalon R.

Reprod Toxicol. 2005 Jul-Aug;20(2):281-3.

PMID:
15907664
4.

Restoration of aspartoacylase activity in CNS neurons does not ameliorate motor deficits and demyelination in a model of Canavan disease.

Klugmann M, Leichtlein CB, Symes CW, Serikawa T, Young D, During MJ.

Mol Ther. 2005 May;11(5):745-53.

5.
6.

Aspartoacylase gene transfer to the mammalian central nervous system with therapeutic implications for Canavan disease.

Leone P, Janson CG, Bilaniuk L, Wang Z, Sorgi F, Huang L, Matalon R, Kaul R, Zeng Z, Freese A, McPhee SW, Mee E, During MJ.

Ann Neurol. 2000 Jul;48(1):27-38. Erratum in: Ann Neurol 2000 Sep;48(3):398. Bilianuk L [corrected to Bilaniuk L].

PMID:
10894213
7.

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 5;28(45):11537-49. doi: 10.1523/JNEUROSCI.1490-08.2008.

8.

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.

9.

Loss of central auditory processing in a mouse model of Canavan disease.

von Jonquieres G, Froud KE, Klugmann CB, Wong AC, Housley GD, Klugmann M.

PLoS One. 2014 May 14;9(5):e97374. doi: 10.1371/journal.pone.0097374. eCollection 2014.

10.

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. doi: 10.1371/journal.pone.0020336. Epub 2011 May 20.

11.

Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease.

Olsen TR, Tranebjaerg L, Kvittingen EA, Hagenfeldt L, Møller C, Nilssen O.

J Med Genet. 2002 Sep;39(9):e55. No abstract available.

12.

Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.

Zeng BJ, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ, Raghavan S, Ong E, Pastores GM, Kolodny EH.

J Inherit Metab Dis. 2002 Nov;25(7):557-70.

PMID:
12638939
13.

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. Review.

PMID:
16802706
14.

Mutation analysis of the aspartoacylase gene in non-Jewish patients with Canavan disease.

Zeng BJ, Pastores GM, Leone P, Raghavan S, Wang ZH, Ribeiro LA, Torres P, Ong E, Kolodny EH.

Adv Exp Med Biol. 2006;576:165-73; discussion 361-3. No abstract available.

PMID:
16802711
15.

A novel aspartoacylase (ASPA) gene mutation in Canavan disease.

Durmaz AA, Akin H, Onay H, Vahabi A, Ozkinay F.

Fetal Pediatr Pathol. 2012 Aug;31(4):236-9. doi: 10.3109/15513815.2011.650292. Epub 2012 Apr 2.

PMID:
22468686
16.

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 May-Jun;2(3):165-75.

PMID:
10894262
17.

A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family.

Hussain R, Daud S, Kakar N, Ahmad A, Baloch AH, Tareen AM, Kakar MA, Ahmad J.

Mol Biol Rep. 2012 May;39(5):6197-201. doi: 10.1007/s11033-011-1438-2. Epub 2012 Jan 5.

PMID:
22219087
18.

A benign polymorphism in the aspartoacylase gene may cause misinterpretation of Canavan gene testing.

Propheta O, Magal N, Shohat M, Eyal N, Navot N, Horowitz M.

Eur J Hum Genet. 1998 Nov-Dec;6(6):635-7.

19.

Aspartoacylase gene knockout results in severe vacuolation in the white matter and gray matter of the spinal cord in the mouse.

Surendran S, Campbell GA, Tyring SK, Matalon R.

Neurobiol Dis. 2005 Mar;18(2):385-9.

PMID:
15686967
20.

Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease.

Kaul R, Gao GP, Matalon R, Aloya M, Su Q, Jin M, Johnson AB, Schutgens RB, Clarke JT.

Am J Hum Genet. 1996 Jul;59(1):95-102.

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