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Article

Temperature-sensitive mutation of PEX6 in peroxisome biogenesis disorders in complementation group C (CG-C): comparative study of PEX6 and PEX1.

Pediatric research - 1 Oct 2000

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

Abstract excerpt

Peroxisome biogenesis disorders (PBD), including Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease, are a group of genetically heterogeneous autosomal-recessive diseases caused by mutations in PEX genes that encode peroxins, proteins required for peroxisome biogenesis. Zellweger syndrome patients present the most severe phenotype, whereas neonatal adrenoleukodystrophy patients are...

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Source

Identifiers

PMID: 11004248
DOI: 10.1203/00006450-200010000-00020

Genes

PEX6
PEX1

Variants

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.

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Temperature-sensitive mutation of PEX6 in peroxisome biogenesis disorders in complementation group C (CG-C): comparative study of PEX6 and PEX1.PMID 11004248Read ↗

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