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Article

Impact of sphingolipids on osteoblast and osteoclast activity in Gaucher disease.

Molecular genetics and metabolism - 1 Aug 2018

Reed Matthew C, Schiffer Capucine, Heales Simon, Mehta Atul B, Hughes Derralynn A

Abstract excerpt

Gaucher disease (GD) is an inherited disorder in which mutations in the GBA1 gene lead to deficient β-glucocerebrosidase activity and accumulation of its substrate glucosylceramide. Bone disease is present in around 84% of GD patients, ranging from bone loss including osteopenia and osteonecrosis to abnormal bone remodelling in the form of Erlenmeyer flask formation. The range of severity and variety of types of...

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Source

Identifiers

PMID: 29934064
DOI: 10.1016/j.ymgme.2018.06.007

Genes

MSC
GBA1

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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