Article
A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene.
Journal of medical genetics - 1 May 2012
Ebberink Merel S, Koster Janet, Visser Gepke, Spronsen Francjan van, Stolte-Dijkstra Irene, Smit G Peter A, Fock Johanna M, Kemp Stephan, Wanders Ronald J A, Waterham Hans R
Abstract excerpt
BACKGROUND: Peroxisomes are organelles that proliferate continuously and play an indispensable role in human metabolism. Consequently, peroxisomal gene defects can cause multiple, often severe disorders, including the peroxisome biogenesis disorders. Currently, 13 different PEX proteins have been implicated in various stages of peroxisome assembly and protein import. Defects in any of these proteins result in a...
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