ASPA Gene

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1		Vicky Zhou	+ 499 word(s)	499	2020-12-15 07:45:05

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Zhou, V. ASPA Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4771 (accessed on 22 September 2026).

Zhou V. ASPA Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4771. Accessed September 22, 2026.

Zhou, Vicky. "ASPA Gene" Encyclopedia, https://encyclopedia.pub/entry/4771 (accessed September 22, 2026).

Zhou, V. (2020, December 24). ASPA Gene. In Encyclopedia. https://encyclopedia.pub/entry/4771

Zhou, Vicky. "ASPA Gene." Encyclopedia. Web. 24 December, 2020.

ASPA Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/aspa

aspartoacylase

genes

References

Baslow MH. Brain N-acetylaspartate as a molecular water pump and its role inthe etiology of Canavan disease: a mechanistic explanation. J Mol Neurosci.2003;21(3):185-90. Review.
Bitto E, Bingman CA, Wesenberg GE, McCoy JG, Phillips GN Jr. Structure ofaspartoacylase, the brain enzyme impaired in Canavan disease. Proc Natl Acad Sci U S A. 2007 Jan 9;104(2):456-61.
Guo F, Bannerman P, Mills Ko E, Miers L, Xu J, Burns T, Li S, Freeman E,McDonough JA, Pleasure D. Ablating N-acetylaspartate prevents leukodystrophy in aCanavan disease model. Ann Neurol. 2015 May;77(5):884-8. doi: 10.1002/ana.24392.
Hershfield JR, Pattabiraman N, Madhavarao CN, Namboodiri MA. Mutationalanalysis of aspartoacylase: implications for Canavan disease. Brain Res. 2007 May7;1148:1-14.
Madhavarao CN, Arun P, Moffett JR, Szucs S, Surendran S, Matalon R, Garbern J,Hristova D, Johnson A, Jiang W, Namboodiri MA. Defective N-acetylaspartatecatabolism reduces brain acetate levels and myelin lipid synthesis in Canavan'sdisease. Proc Natl Acad Sci U S A. 2005 Apr 5;102(14):5221-6.
Namboodiri AM, Peethambaran A, Mathew R, Sambhu PA, Hershfield J, Moffett JR, Madhavarao CN. Canavan disease and the role of N-acetylaspartate in myelinsynthesis. Mol Cell Endocrinol. 2006 Jun 27;252(1-2):216-23.Review.
Sommer A, Sass JO. Expression of aspartoacylase (ASPA) and Canavan disease.Gene. 2012 Sep 1;505(2):206-10. doi: 10.1016/j.gene.2012.06.036.
Tacke U, Olbrich H, Sass JO, Fekete A, Horvath J, Ziyeh S, Kleijer WJ, RollandMO, Fisher S, Payne S, Vargiami E, Zafeiriou DI, Omran H. Possiblegenotype-phenotype correlations in children with mild clinical course of Canavan disease. Neuropediatrics. 2005 Aug;36(4):252-5.
Zano S, Wijayasinghe YS, Malik R, Smith J, Viola RE. Relationship betweenenzyme properties and disease progression in Canavan disease. J Inherit MetabDis. 2013 Jan;36(1):1-6. doi: 10.1007/s10545-012-9520-z.in: J Inherit Metab Dis. 2013 Jan;36(1):159-60.
Zeng BJ, Pastores GM, Leone P, Raghavan S, Wang ZH, Ribeiro LA, Torres P, Ong E, Kolodny EH. Mutation analysis of the aspartoacylase gene in non-Jewishpatients with Canavan disease. Adv Exp Med Biol. 2006;576:165-73; discussion361-3.
Zeng BJ, Wang ZH, Torres PA, Pastores GM, Leone P, Raghavan SS, Kolodny EH.Rapid detection of three large novel deletions of the aspartoacylase gene innon-Jewish patients with Canavan disease. Mol Genet Metab. 2006Sep-Oct;89(1-2):156-63.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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