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Article

Generation and characterization of a novel Gaa compound heterozygous mouse model recapitulating human Pompe disease.

Orphanet journal of rare diseases - 25 Feb 2026

Huang Wenjun, Wang Jie, Zhou Yafei, Xiao Hongyu, Jiang Kaichong, Cui Jiale, Zhang Yanmin, Zhou Rui

Abstract excerpt

BACKGROUND: Pompe disease (PD), caused by a deficiency in acid α-glucosidase (GAA), is a lysosomal storage disorder. Existing Gaa knockout and point mutation mouse models have substantially advanced mechanistic understanding, but most are homozygous for single mutations and do not faithfully model the compound‑heterozygous GAA genotypes common in patients. A more clinically relevant in vivo model is still needed...

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Identifiers

PMID: 41742217
DOI: 10.1186/s13023-026-04273-x
PMCID: PMC13040868

Genes

GAA

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