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Article

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

Human molecular genetics - 1 Jun 1999

Shimozawa N, Suzuki Y, Zhang Z, Imamura A, Toyama R, Mukai S, Fujiki Y, Tsukamoto T, Osumi T, Orii T, Wanders R J, Kondo N

Abstract excerpt

Peroxisome biogenesis disorders, including Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease, are lethal hereditary diseases caused by abnormalities in peroxisomal assembly. To date, 12 genotypes have been identified. We now have evidence that the complete human cDNA encoding Pex13p, an SH3 protein of a docking factor for the peroxisome targeting signal 1 receptor (Pex5p),...

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Source

Identifiers

PMID: 10332040
DOI: 10.1093/hmg/8.6.1077

Genes

PEX13

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders.PMID 10332040Read ↗

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

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

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

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

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

Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.Semantic proximity Read ↗

Identification of a novel PEX14 mutation in Zellweger syndrome.Semantic proximity Read ↗

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

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 ↗

PEX12, the pathogenic gene of group III Zellweger syndrome: cDNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of PEX12p.Semantic proximity Read ↗

Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction.Semantic proximity Read ↗

Temperature-sensitive mutation in PEX1 moderates the phenotypes of peroxisome deficiency disorders.Semantic proximity Read ↗

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