Identification of a new complementation group of the peroxisome biogenesis disorders andPEX14 as the mutated gene

2004 ◽  
Vol 23 (6) ◽  
pp. 552-558 ◽  
Author(s):  
Nobuyuki Shimozawa ◽  
Toshiro Tsukamoto ◽  
Tomoko Nagase ◽  
Yasuhiko Takemoto ◽  
Naoki Koyama ◽  
...  
Keyword(s):  
Complementation Group ◽  
Peroxisome Biogenesis ◽  
Peroxisome Biogenesis Disorders

Phenotype–genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p–Pex6p interaction

2001 ◽  
Vol 357 (2) ◽  
pp. 417-426 ◽  
Author(s):  
Shigehiko TAMURA ◽  
Naomi MATSUMOTO ◽  
Atsushi IMAMURA ◽  
Nobuyuki SHIMOZAWA ◽  
Yasuyuki SUZUKI ◽  
...  
Keyword(s):  
Zellweger Syndrome ◽  
Complementation Group ◽  
Temperature Sensitive ◽  
Permissive Temperature ◽  
Peroxisome Biogenesis ◽  
Causative Gene ◽  
Aaa Atpase ◽  
Peroxisome Biogenesis Disorders ◽  
The Stability

The peroxisome biogenesis disorders (PBDs), including Zellweger syndrome (ZS), neonatal adrenoleucodystrophy (NALD) and infantile Refsum disease (IRD), are fatal autosomal recessive diseases caused by impaired peroxisome biogenesis, of which 12 genotypes have been reported. ZS patients manifest the severest clinical and biochemical abnormalities, whereas those with NALD and IRD show less severity and the mildest features respectively. We have reported previously that temperature-sensitive peroxisome assembly is responsible for the mildness of the clinical features of IRD. PEX1 is the causative gene for PBDs of complementation group E (CG-E, CG1 in the U.S.A. and Europe), the PBDs of highest incidence, encoding the peroxin Pex1p of the AAA ATPase family. It has been also reported that Pex1p and Pex6p interact with each other. In the present study we investigated phenotype–genotype relationships of CG1 PBDs. Pex1p from IRD such as Pex1p with the most frequently identified mutation at G843D was largely degraded in vivo at 37°C, whereas a normal level of Pex1p was detectable at the permissive temperature. In contrast, PEX1 proteins derived from ZS patients, including proteins with a mutation at L664P or the deletion of residues 634–690, were stably present at both temperatures. Pex1p-G843D interacted with Pex6p at approx. 50% of the level of normal Pex1p, whereas Pex1p from ZS patients mostly showing non-temperature-sensitive peroxisome biogenesis hardly bound to Pex6p. Taking these results together, we consider it most likely that the stability of Pex1p reflects temperature-sensitive peroxisome assembly in IRD fibroblasts. Failure in Pex1p–Pex6p interaction gives rise to more severe abnormalities, such as those manifested by patients with ZS.

scholarly journals Identification of PEX10, the Gene Defective in Complementation Group 7 of the Peroxisome-Biogenesis Disorders

1998 ◽  
Vol 63 (2) ◽  
pp. 347-359 ◽  
Author(s):  
Daniel S. Warren ◽  
James C. Morrell ◽  
Hugo W. Moser ◽  
David Valle ◽  
Stephen J. Gould
Keyword(s):  
Complementation Group ◽  
Peroxisome Biogenesis ◽  
Peroxisome Biogenesis Disorders

scholarly journals PEX13 Is Mutated in Complementation Group 13 of the Peroxisome-Biogenesis Disorders

1999 ◽  
Vol 65 (3) ◽  
pp. 621-634 ◽  
Author(s):  
Yifei Liu ◽  
Jonas Björkman ◽  
Aaron Urquhart ◽  
Ronald J.A. Wanders ◽  
Denis I. Crane ◽  
...  
Keyword(s):  
Complementation Group ◽  
Peroxisome Biogenesis ◽  
Group 13 ◽  
Peroxisome Biogenesis Disorders

scholarly journals Phenotype‒genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p‒Pex6p interaction

2001 ◽  
Vol 357 (2) ◽  
pp. 417 ◽  
Author(s):  
Shigehiko TAMURA ◽  
Naomi MATSUMOTO ◽  
Atsushi IMAMURA ◽  
Nobuyuki SHIMOZAWA ◽  
Yasuyuki SUZUKI ◽  
...  
Keyword(s):  
Complementation Group ◽  
Peroxisome Biogenesis ◽  
Peroxisome Biogenesis Disorders ◽  
Group 1

Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders

1995 ◽  
Vol 9 (2) ◽  
pp. 115-125 ◽  
Author(s):  
Gabriele Dodt ◽  
Nancy Braverman ◽  
Candice Wong ◽  
Ann Moser ◽  
Hugo W. Moser ◽  
...  
Keyword(s):  
Receptor Gene ◽  
Complementation Group ◽  
Peroxisome Biogenesis ◽  
Peroxisome Biogenesis Disorders ◽  
Group 2
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