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Article

Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders.

Nature genetics - 1 Feb 1995

Dodt G, Braverman N, Wong C, Moser A, Moser H W, Watkins P, Valle D, Gould S J

Abstract excerpt

The peroxisome biogenesis disorders (PBDs) are lethal recessive diseases caused by defects in peroxisome assembly. We have isolated PXR1, a human homologue of the yeast P. pastoris PAS8 (peroxisome assembly) gene. PXR1, like PAS8, encodes a receptor for proteins with the type-1 peroxisomal targeting signal (PTS1). Mutations in PXR1 define complementation group 2 of PBDs and expression of PXR1 rescues the PTS1...

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PMID: 7719337
DOI: 10.1038/ng0295-115

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders.PMID 7719337Read ↗

The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor.Semantic proximity Read ↗

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

Peroxisome targeting signal type 1 (PTS1) receptor is involved in import of both PTS1 and PTS2: studies with PEX5-defective CHO cell mutants.Semantic proximity Read ↗

The pas8 mutant of Pichia pastoris exhibits the peroxisomal protein import deficiencies of Zellweger syndrome cells--the PAS8 protein binds to the COOH-terminal tripeptide peroxisomal targeting signal, and is a member of the TPR protein family.Semantic proximity Read ↗

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

Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor.Semantic proximity Read ↗

Peroxisome biogenesis and molecular defects in peroxisome assembly disorders.Semantic proximity Read ↗

The import receptor Pex7p and the PTS2 targeting sequence.Semantic proximity Read ↗

Peroxisome structure, function, and biogenesis--human patients and yeast mutants show strikingly similar defects in peroxisome biogenesis.Semantic proximity Read ↗

A mobile PTS2 receptor for peroxisomal protein import in Pichia pastoris.Semantic proximity Read ↗

Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor.Semantic proximity Read ↗

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

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