Exonic deletions in GALC are frequent in Japanese globoid-cell leukodystrophy patients-Reference-Cited by-同舟云学术

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Exonic deletions in GALC are frequent in Japanese globoid-cell leukodystrophy patients

Published:2018-10-05 Issue:1 Volume:5 Page:
ISSN:2054-345X
Container-title:Human Genome Variation
language:en
Short-container-title:Hum Genome Var

Author:

Irahara-Miyana Kaori,Enokizono Takashi,Ozono Keiichi,Sakai Norio

Funder

Health and Labour Sciences Research Grants (H29-nanchitou(nan)-ippan-024) from Ministry of Health, Labour and Welfare

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

http://www.nature.com/articles/s41439-018-0027-5.pdf

Reference8 articles.

1. Suzuki, K. & Suzuki, Y. Globoid cell leucodystrophy (Krabbe’s disease): deficiency of galactocerebroside β-galactosidase. Proc. Natl Acad. Sci. USA 66, 302–309 (1970).

2. Chen, Y. Q., Rafi, M. A., de Gala, G. & Wenger, D. A. Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy. Hum. Mol. Gene 2, 1841–1845 (1993).

3. Rafi, M. A., Luzi, P., Chen, Y. Q. & Wenger, D. A. A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease. Hum. Mol. Gene 4, 1285–1289 (1995).

4. Hossain, M. A. et al. Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form. Gene 534, 144–154 (2014).

5. Wiederschain, G., Raghavan, S. & Kolodny, E. Characterization of 6-hexadecanoylamino-4-methylumbelliferyl-β-D-galactopyranoside as fluorogenic substrate of galactocerebrosidase for the diagnosis of Krabbe disease. Clin. Chim. Acta 205, 87–96 (1992).

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3. Adult-onset Krabbe disease presenting with progressive myoclonic epilepsy and asymmetric occipital lesions: A case report;Frontiers in Neurology;2022-10-21

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