PMID- 10332040
OWN - NLM
STAT- MEDLINE
DCOM- 19990708
LR  - 20190513
IS  - 0964-6906 (Print)
IS  - 0964-6906 (Linking)
VI  - 8
IP  - 6
DP  - 1999 Jun
TI  - Nonsense and temperature-sensitive mutations in PEX13 are the cause of
      complementation group H of peroxisome biogenesis disorders.
PG  - 1077-83
AB  - 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 patients of complementation group H. In addition, we
      detected mutations on the human PEX13 cDNA in two patients of group H. A severe
      phenotype of a ZS patient (H-02) was homozygous for a nonsense mutation, W234ter,
      which results in the loss of not only the SH3 domain but also the putative
      transmembrane domain of Pex13p. A more mildly affected NALD patient (H-01), whose
      fibroblasts showed the temperature-sensitive (TS) phenotype, was homozygous for a
      missense mutation in the SH3 domain of Pex13p, I326T. This mutant PEX13 cDNA
      expression in a PEX13-defective CHO mutant showed I326T to be a TS mutation and
      thus suggested that Pex13p with the I326T mutation in the SH3 domain is stable at
      30 degrees C but is somewhat unstable at 37 degrees C.
FAU - Shimozawa, N
AU  - Shimozawa N
AD  - Department of Pediatrics, Gifu University School of Medicine, 40 Tsukasa-machi,
      Gifu 500-8076, Japan. nshim@cc.gifu-u.ac.jp
FAU - Suzuki, Y
AU  - Suzuki Y
FAU - Zhang, Z
AU  - Zhang Z
FAU - Imamura, A
AU  - Imamura A
FAU - Toyama, R
AU  - Toyama R
FAU - Mukai, S
AU  - Mukai S
FAU - Fujiki, Y
AU  - Fujiki Y
FAU - Tsukamoto, T
AU  - Tsukamoto T
FAU - Osumi, T
AU  - Osumi T
FAU - Orii, T
AU  - Orii T
FAU - Wanders, R J
AU  - Wanders RJ
FAU - Kondo, N
AU  - Kondo N
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Hum Mol Genet
JT  - Human molecular genetics
JID - 9208958
RN  - 0 (Membrane Proteins)
RN  - 0 (PEX13 protein, human)
RN  - 0 (Peroxisome-Targeting Signal 1 Receptor)
RN  - 0 (Receptors, Cytoplasmic and Nuclear)
RN  - 0 (Recombinant Fusion Proteins)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Amino Acid Sequence
MH  - Amino Acid Substitution
MH  - Animals
MH  - Base Sequence
MH  - CHO Cells
MH  - Cricetinae
MH  - DNA/chemistry/genetics
MH  - DNA Mutational Analysis
MH  - Fibroblasts/cytology/metabolism
MH  - Genetic Complementation Test
MH  - Humans
MH  - Membrane Proteins/*genetics
MH  - Microbodies/metabolism
MH  - Mutation
MH  - Mutation, Missense
MH  - Peroxisomal Disorders/*genetics/metabolism/pathology
MH  - Peroxisome-Targeting Signal 1 Receptor
MH  - Phenotype
MH  - Point Mutation
MH  - Receptors, Cytoplasmic and Nuclear/metabolism
MH  - Recombinant Fusion Proteins/genetics
MH  - Zellweger Syndrome/genetics/metabolism/pathology
EDAT- 1999/05/20 00:00
MHDA- 1999/05/20 00:01
CRDT- 1999/05/20 00:00
PHST- 1999/05/20 00:00 [pubmed]
PHST- 1999/05/20 00:01 [medline]
PHST- 1999/05/20 00:00 [entrez]
AID - ddc124 [pii]
AID - 10.1093/hmg/8.6.1077 [doi]
PST - ppublish
SO  - Hum Mol Genet. 1999 Jun;8(6):1077-83. doi: 10.1093/hmg/8.6.1077.