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Article

A novel mouse model that recapitulates adult-onset glycogenosis type 4.

Human molecular genetics - 1 Dec 2015

Orhan Akman H, Emmanuele Valentina, Kurt Yasemin Gülcan, Kurt Bülent, Sheiko Tatiana, DiMauro Salvatore, Craigen William J

Abstract excerpt

Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by deficiency of the glycogen-branching enzyme (GBE). The diagnostic hallmark of the disease is the accumulation of a poorly branched form of glycogen known as polyglucosan (PG). The disease is clinically heterogeneous, with variable tissue involvement and age at onset. Complete loss of enzyme activity is lethal in utero or in...

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Source

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Identifiers

PMID: 26385640
DOI: 10.1093/hmg/ddv385
PMCID: PMC4634380

Genes

GBE1

Variants

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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