Functional heterogeneity of C-terminal peroxisome targeting signal 1 in PEX5-defective patients.

@article{Shimozawa1999FunctionalHO,
  title={Functional heterogeneity of C-terminal peroxisome targeting signal 1 in PEX5-defective patients.},
  author={Nobuyuki Shimozawa and Z Zhang and Yasuyuki Suzuki and Asuka Imamura and Toshiro Tsukamoto and Takashi Osumi and Yukio Fujiki and Tadao Orii and Peter G. Barth and Ronald J. A. Wanders and Naomi Kondo},
  journal={Biochemical and biophysical research communications},
  year={1999},
  volume={262 2},
  pages={504-8}
}
To investigate mechanisms related to functions of the peroxisome targeting signal (PTS) 1 receptor, Pex5p, we analyzed peroxisome matrix protein import in fibroblasts from three patients with peroxisome biogenesis disorders, all with different mutations in the PEX5 gene. The patients 2-01 (Zellweger syndrome) and 2-05 (neonatal adrenoleukodystrophy) have the reported mutations, R390X and N489K, and patient 2-03 (infantile Refsum disease) has a newly identified mutation, S563W. Fibroblasts from… CONTINUE READING

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