Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene.

@article{Ebberink2010IdentificationOA,
  title={Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene.},
  author={Merel S. Ebberink and Barbara Cs{\'a}nyi and Wui Khean Kling Chong and Simone W Denis and Peter Sharp and Petra A. W. Mooijer and Conny J M Dekker and Claire G Spooner and Lock Hock Ngu and Carlos de Sousa and Ronald J. A. Wanders and Michael J Fietz and Peter Theodore Clayton and H. R. Waterham and Sacha Ferdinandusse},
  journal={Journal of medical genetics},
  year={2010},
  volume={47 9},
  pages={608-15}
}
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 membrane proteins, resulting in a total absence of peroxisomal remnants. OBJECTIVE To… CONTINUE READING
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