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Article

Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants.

Traffic (Copenhagen, Denmark) - 1 Aug 2016

Spratley Samantha J, Hill Chris H, Viuff Agnete H, Edgar James R, Skjødt Karsten, Deane Janet E

Abstract excerpt

Krabbe disease is a severe, fatal neurodegenerative disorder caused by defects in the lysosomal enzyme galactocerebrosidase (GALC). The correct targeting of GALC to the lysosome is essential for the degradation of glycosphingolipids including the primary lipid component of myelin. Over 100 different mutations have been identified in GALC that cause Krabbe disease but the mechanisms by which they cause disease...

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Source

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Identifiers

PMID: 27126738
DOI: 10.1111/tra.12404
PMCID: PMC4949656

Genes

GALC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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