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Article

Genetics and molecular basis of human peroxisome biogenesis disorders.

Biochimica et biophysica acta - 1 Sept 2012

Waterham Hans R, Ebberink Merel S

Abstract excerpt

Human peroxisome biogenesis disorders (PBDs) are a heterogeneous group of autosomal recessive disorders comprised of two clinically distinct subtypes: the Zellweger syndrome spectrum (ZSS) disorders and rhizomelic chondrodysplasia punctata (RCDP) type 1. PBDs are caused by defects in any of at least 14 different PEX genes, which encode proteins involved in peroxisome assembly and proliferation. Thirteen of these...

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PMID: 22871920
DOI: 10.1016/j.bbadis.2012.04.006

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