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Article

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

Gene - 25 Jan 2014

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

Abstract excerpt

Krabbe disease is an autosomal recessive leukodystrophy caused by the deficiency of the galactocerebrosidase (GALC) enzyme. It is pathologically characterized by demyelination of the central and peripheral nervous systems by accumulation of galactosylsphingosine. To date, more than 120 mutations in the GALC gene have been reported worldwide and genotype-phenotype correlations have been reported in some types of...

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Identifiers

PMID: 24252386
DOI: 10.1016/j.gene.2013.11.003

Genes

GALC

Variants

Provenance

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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.PMID 24252386Read ↗

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Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation.Semantic proximity Read ↗

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