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Article

Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.

Human mutation - 1 Jan 2010

Ebberink Merel S, Kofster Janet, Wanders Ronald J A, Waterham Hans R

Abstract excerpt

The autosomal recessive Zellweger syndrome spectrum (ZSS) disorders comprise a main subgroup of the peroxisome biogenesis disorders. The ZSS disorders can be caused by mutations in any of 12 different currently identified PEX genes resulting in severe, often lethal, multi-systemic disorders. Defe...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19877282
DOI: 10.1002/humu.21153

Genes

PEX6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-19877282-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients.PMID 19877282Read ↗

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Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.Semantic proximity Read ↗

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Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex.Semantic proximity Read ↗

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Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.Semantic proximity Read ↗

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