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

doi:10.1242/jcs.108.5.1817

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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....

Topics

Adrenoleukodystrophy
Amino Acid Sequence
Biological Transport
Cells, Cultured
Chondrodysplasia Punctata
Fatty Acids
Fibroblasts
Genes
Genes, Fungal
Genetic Complementation Test
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Membrane Proteins

Microbodies

Molecular Sequence Data

Peroxisomal Targeting Signal 2 Receptor

Peroxisome-Targeting Signal 1 Receptor

Phenotype

Pichia

Source

Open in PubMed

Identifiers

PMID: 7544797
DOI: 10.1242/jcs.108.5.1817

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7544797-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 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 ↗

Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups.Semantic proximity Read ↗

Differential protein import deficiencies in human peroxisome assembly disorders.Semantic proximity Read ↗

Genetic relationship between the Zellweger syndrome and other peroxisomal disorders characterized by an impairment in the assembly of peroxisomes.Semantic proximity Read ↗

Genotype-phenotype correlations in disorders of peroxisome biogenesis.Semantic proximity Read ↗

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 ↗

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

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