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Article

New Directions in Gaucher Disease.

Human mutation - 1 Nov 2016

Horowitz Mia, Elstein Deborah, Zimran Ari, Goker-Alpan Ozlem

Abstract excerpt

In Gaucher disease (GD), mutant lysosomal acid β-glucocerebrosidase fails to properly hydrolyze its substrate, glucosylceramide, which accumulates in the lysosomes. Due to its phenotypic heterogeneity, GD has been classified into type 1, non-neuronopathic, and types 2 and 3, the neuronopathic forms, based on the primary involvement of the central nervous system. Neuroinflammation and necroptotic death may appear...

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Identifiers

PMID: 27449603
DOI: 10.1002/humu.23056

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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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