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Article

Identification of a common PEX1 mutation in Zellweger syndrome.

Human mutation - 1 Jan 1999

Collins C S, Gould S J

Abstract excerpt

The Zellweger spectrum of disease, encompassing Zellweger syndrome and the progressively milder phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease, is due to a failure to form functional peroxisomes. Cell fusion complementation studies demonstrated that these diseases are ge...

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Source

Identifiers

PMID: 10447258
DOI: 10.1002/(SICI)1098-1004(1999)14:1<45::AID-HUMU6>3.0.CO;2-J

Genes

PEX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-10447258-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

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Research trail→

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Identification of a common PEX1 mutation in Zellweger syndrome.PMID 10447258Read ↗

A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype.Semantic proximity Read ↗

PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders.Semantic proximity Read ↗

Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.Semantic proximity Read ↗

Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders.Semantic proximity Read ↗

Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease.Semantic proximity Read ↗

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

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

Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype.Semantic proximity Read ↗

Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder.Semantic proximity Read ↗

A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder.Semantic proximity Read ↗

Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations.Semantic proximity Read ↗

Two novel PEX1 mutations in a patient with Zellweger syndrome: the first Korean case confirmed by biochemical, and molecular evidence.Semantic proximity Read ↗

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