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Article

The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder.

Molecular genetics and metabolism - 1 Apr 2014

Hiebler Shandi, Masuda Tomohiro, Hacia Joseph G, Moser Ann B, Faust Phyllis L, Liu Anita, Chowdhury Nivedita, Huang Ning, Lauer Amanda, Bennett Jean, Watkins Paul A, Zack Donald J, Braverman Nancy E, Raymond Gerald V, Steinberg Steven J

Abstract excerpt

Zellweger spectrum disorder (ZSD) is a disease continuum that results from inherited defects in PEX genes essential for normal peroxisome assembly. These autosomal recessive disorders impact brain development and also cause postnatal liver, adrenal, and kidney dysfunction, as well as loss of vision and hearing. The hypomorphic PEX1-G843D missense allele, observed in approximately 30% of ZSD patients, is...

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Identifiers

PMID: 24503136
DOI: 10.1016/j.ymgme.2014.01.008
PMCID: PMC4901203

Genes

PEX1

Variants

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