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Article

PEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders.

American journal of human genetics - 1 Sept 1999

Liu Y, Björkman J, Urquhart A, Wanders R J, Crane D I, Gould S J

Abstract excerpt

The peroxisome-biogenesis disorders (PBDs) are a genetically and phenotypically diverse group of diseases caused by defects in peroxisome assembly. One of the milder clinical variants within the PBDs is neonatal adrenoleukodystrophy (NALD), a disease that is usually associated with partial defects in the import of peroxisomal matrix proteins that carry the type 1 or type 2 peroxisomal targeting signals. Here, we...

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Identifiers

PMID: 10441568
DOI: 10.1086/302534
PMCID: PMC1377968

Genes

PEX13

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

PEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders.PMID 10441568Read ↗

Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders.Semantic proximity Read ↗

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

Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G.Semantic proximity Read ↗

Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives.Semantic proximity Read ↗

PEX3 is the causal gene responsible for peroxisome membrane assembly-defective Zellweger syndrome of complementation group G.Semantic proximity Read ↗

Pex13 inactivation in the mouse disrupts peroxisome biogenesis and leads to a Zellweger syndrome phenotype.Semantic proximity Read ↗

Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene.Semantic proximity Read ↗

Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders.Semantic proximity Read ↗

Molecular basis of peroxisomal biogenesis disorders caused by defects in peroxisomal matrix protein import.Semantic proximity Read ↗

Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.Semantic proximity Read ↗

Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B.Semantic proximity Read ↗

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

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