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Distinguishing PEX2 and PEX16 gene variant severity for mild, severe and atypical peroxisome biogenesis disorders.

Disease models & mechanisms - 1 Jul 2025

Gomez Vanessa A, Kanca Oguz, Jangam Sharayu V, Srivastav Saurabh, Andrews Jonathan C, Wangler Michael F

Abstract excerpt

Peroxisomal biogenesis disorders (PBD) are autosomal recessive diseases caused by mutations in specific PEX genes that impair peroxisome formation, leading to multi-systemic failure. Symptoms vary, even in patients with variants in the same PEX gene. Our goal is to select PEX mutations and use Drosophila to model a severity spectrum based on genotype-phenotype correlations. Utilizing KozakGAL4 (KZ) cassettes, we...

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Identifiers

PMID: 40621817
DOI: 10.1242/dmm.052258
PMCID: PMC12352285

Genes

PEX16
PEX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Distinguishing PEX2 and PEX16 gene variant severity for mild, severe and atypical peroxisome biogenesis disorders.PMID 40621817Read ↗

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