Article
Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene.
Journal of medical genetics - 1 Sept 2010
Ebberink Merel S, Csanyi Barbara, Chong Wui K, Denis Simone, Sharp Peter, Mooijer Petra A W, Dekker Conny J M, Spooner Claire, Ngu Lock H, De Sousa Carlos, Wanders Ronald J A, Fietz Michael J, Clayton Peter T, Waterham Hans R, Ferdinandusse Sacha
Abstract excerpt
BACKGROUND: Zellweger syndrome spectrum disorders are caused by mutations in any of at least 12 different PEX genes. This includes PEX16, which encodes an integral peroxisomal membrane protein involved in peroxisomal membrane assembly. PEX16-defective patients have been reported to have a severe clinical presentation. Fibroblasts from these patients displayed a defect in the import of peroxisomal matrix and...
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