Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders.

@article{Shimozawa1999NonsenseAT,
  title={Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders.},
  author={Nobuyuki Shimozawa and Yasuyuki Suzuki and Z Zhang and Asuka Imamura and Reiko Toyama and Satoru Mukai and Yukio Fujiki and Toshiro Tsukamoto and Takashi Osumi and Tadao Orii and Ronald J. A. Wanders and Naomi Kondo},
  journal={Human molecular genetics},
  year={1999},
  volume={8 6},
  pages={1077-83}
}
Peroxisome biogenesis disorders, including Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease, are lethal hereditary diseases caused by abnormalities in peroxisomal assembly. To date, 12 genotypes have been identified. We now have evidence that the complete human cDNA encoding Pex13p, an SH3 protein of a docking factor for the peroxisome targeting signal 1 receptor (Pex5p), rescues peroxisomal matrix protein import and its assembly in fibroblasts from PBD… CONTINUE READING