Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form-Reference-Cited by-同舟云学术

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Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form

Published:2014-01 Issue:2 Volume:534 Page:144-154
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Hossain Mohammad Arif,Otomo Takanobu,Saito Seiji,Ohno Kazuki,Sakuraba Hitoshi,Hamada Yusuke,Ozono Keiichi,Sakai Norio

Funder

Ministry of Education, Culture, Science, Sports and Technology

Ministry of Health, Labour and Welfare of Japan

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference44 articles.

1. Galactocerebrosidase from human urine: purification and partial characterization;Chen;Biochim. Biophys. Acta,1993

2. Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy;Chen;Hum. Mol. Genet.,1993

3. Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy;De Gasperi;Am. J. Hum. Genet.,1996

4. Insights into Krabbe disease from structures of galactocerebrosidase;Deane;Proc. Natl. Acad. Sci. U. S. A.,2011

5. Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review;Debs;J. Inherit. Metab. Dis.,2013

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4. Analysis of clinically relevant variants from ancestrally diverse Asian genomes;Nature Communications;2022-11-05

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