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Article

Identification of three distinct peroxisomal protein import defects in patients with peroxisome biogenesis disorders.

Journal of cell science - 1 May 1995

Slawecki M L, Dodt G, Steinberg S, Moser A B, Moser H W, Gould S J

Abstract excerpt

Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum's disease, and classical rhizomelic chondrodysplasia punctata are lethal genetic disorders caused by defects in peroxisome biogenesis. We report here a characterization of the peroxisomal matrix protein import capabilities of fibroblasts from 62 of these peroxisome biogenesis disorder patients representing all ten known complementation groups....

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Identifiers

PMID: 7544797
DOI: 10.1242/jcs.108.5.1817

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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.

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Identification of three distinct peroxisomal protein import defects in patients with peroxisome biogenesis disorders.PMID 7544797Read ↗

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

Rhizomelic chondrodysplasia punctata, a peroxisomal biogenesis disorder caused by defects in Pex7p, a peroxisomal protein import receptor: a minireview.Semantic proximity Read ↗

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

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

Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3.Semantic proximity Read ↗

Intracellular localization, function, and dysfunction of the peroxisome-targeting signal type 2 receptor, Pex7p, in mammalian cells.Semantic proximity Read ↗

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

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