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Article

Unfolded protein response is activated in Krabbe disease in a manner dependent on the mutation type.

Journal of human genetics - 1 Jun 2018

Irahara-Miyana Kaori, Otomo Takanobu, Kondo Hidehito, Hossain Mohammad Arif, Ozono Keiichi, Sakai Norio

Abstract excerpt

Krabbe disease, one of the autosomal-recessive lysosomal storage disorders (LSDs), is caused by a deficiency of galactocerebrosidase (GALC) activity, resulting in the intracellular accumulation of psychosine, which is cytotoxic for neuronal cells. Genetically pathogenic mutations result in conformational changes in GALC and disrupt the lysosmal trafficking of cargos, which subsequently accumulate in the...

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Source

Identifiers

PMID: 29615819
DOI: 10.1038/s10038-018-0445-8

Genes

GALC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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