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Article

A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeleton.

Molecular genetics and metabolism - 1 Apr 2010

Braverman Nancy, Zhang Rui, Chen Li, Nimmo Graeme, Scheper Sarah, Tran Tammy, Chaudhury Rupsa, Moser Ann, Steinberg Steven

Abstract excerpt

Rhizomelic chondrodysplasia punctata type 1 is a peroxisome biogenesis disorder with the clinical features of rhizomelia, abnormal epiphyseal calcifications, congenital cataracts, and profound growth and developmental delays. It is a rare autosomal recessive disorder, caused by defects in the per...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 20060764
DOI: 10.1016/j.ymgme.2009.12.005
PMCID: PMC2839039

Genes

PEX7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20060764-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeleton.PMID 20060764Read ↗

Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata.Semantic proximity Read ↗

Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctataSemantic proximity Read ↗

Beyond the surface: plasmalogens are dispensable for retinal integrity and fertility in the mouseSemantic proximity Read ↗

Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene.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 ↗

Alkyl-glycerol rescues plasmalogen levels and pathology of ether-phospholipid deficient mice.Semantic proximity Read ↗

Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation.Semantic proximity Read ↗

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

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