PMID- 10462504
OWN - NLM
STAT- MEDLINE
DCOM- 19991001
LR  - 20171116
IS  - 0006-291X (Print)
IS  - 0006-291X (Linking)
VI  - 262
IP  - 2
DP  - 1999 Aug 27
TI  - Functional heterogeneity of C-terminal peroxisome targeting signal 1 in
      PEX5-defective patients.
PG  - 504-8
AB  - 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 2-03 (S563W) were detected in both PTS1 and
      PTS2 imports despite the PEX5 defect, findings in contrast with fibroblasts from 
      2-05 (N489K) severely defective in PTS1 import and those from 2-01 (R390X)
      severely defective in both PTS1 and PTS2. The PTS1 receptor in 2-03 is functional
      for only the C-terminal -SKL sequence (acyl-CoA oxidase) and had little or no
      function for C-terminal -AKL (D-bifunctional protein and sterol carrier protein
      2) and -KANL (catalase) sequences, respectively. After transfection of these
      mutated PEX5 cDNA into the PEX5-defective CHO mutant, transformants of ZP102
      revealed that each mutation was responsible for each dysfunction of the PTS1
      import. It seems apparent that -AKL and -KANL are poorer variants of PTS1 and are
      likely to be more susceptible to effects of mutation of its receptor, Pex5p.
CI  - Copyright 1999 Academic Press.
FAU - Shimozawa, N
AU  - Shimozawa N
AD  - Department of Pediatrics, Gifu University School of Medicine, Gifu, 500-8076,
      Japan. nshim@cc.gifu-u.ac.jp
FAU - Zhang, Z
AU  - Zhang Z
FAU - Suzuki, Y
AU  - Suzuki Y
FAU - Imamura, A
AU  - Imamura A
FAU - Tsukamoto, T
AU  - Tsukamoto T
FAU - Osumi, T
AU  - Osumi T
FAU - Fujiki, Y
AU  - Fujiki Y
FAU - Orii, T
AU  - Orii T
FAU - Barth, P G
AU  - Barth PG
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  - United States
TA  - Biochem Biophys Res Commun
JT  - Biochemical and biophysical research communications
JID - 0372516
RN  - 0 (Carrier Proteins)
RN  - 0 (Multienzyme Complexes)
RN  - 0 (PEX5 protein, human)
RN  - 0 (Peroxisomal Targeting Signal 2 Receptor)
RN  - 0 (Peroxisome-Targeting Signal 1 Receptor)
RN  - 0 (Protein Sorting Signals)
RN  - 0 (Receptors, Cytoplasmic and Nuclear)
RN  - 0 (Sterols)
RN  - EC 1.- (Oxidoreductases)
RN  - EC 1.1.- (17-Hydroxysteroid Dehydrogenases)
RN  - EC 1.1.1.- (3-Hydroxyacyl CoA Dehydrogenases)
RN  - EC 1.3.3.6 (Acyl-CoA Oxidase)
RN  - EC 4.2.1.- (Hydro-Lyases)
RN  - EC 4.2.1.107 (Peroxisomal Multifunctional Protein-2)
RN  - EC 4.2.1.119 (HSD17B4 protein, human)
RN  - EC 4.2.1.17 (Enoyl-CoA Hydratase)
SB  - IM
MH  - *17-Hydroxysteroid Dehydrogenases
MH  - 3-Hydroxyacyl CoA Dehydrogenases/metabolism
MH  - Acyl-CoA Oxidase
MH  - Biological Transport
MH  - Carrier Proteins/metabolism
MH  - Cell Compartmentation
MH  - *Enoyl-CoA Hydratase
MH  - Fibroblasts/cytology
MH  - Humans
MH  - Hydro-Lyases/metabolism
MH  - Microbodies/*metabolism
MH  - Multienzyme Complexes/metabolism
MH  - Mutation
MH  - Oxidoreductases/metabolism
MH  - Peroxisomal Disorders/*genetics
MH  - Peroxisomal Multifunctional Protein-2
MH  - Peroxisomal Targeting Signal 2 Receptor
MH  - Peroxisome-Targeting Signal 1 Receptor
MH  - Protein Sorting Signals/*genetics
MH  - Receptors, Cytoplasmic and Nuclear/*genetics
MH  - Sterols
MH  - Transformation, Genetic
MH  - Zellweger Syndrome/genetics
EDAT- 1999/08/27 00:00
MHDA- 1999/08/27 00:01
CRDT- 1999/08/27 00:00
PHST- 1999/08/27 00:00 [pubmed]
PHST- 1999/08/27 00:01 [medline]
PHST- 1999/08/27 00:00 [entrez]
AID - 10.1006/bbrc.1999.1232 [doi]
AID - S0006-291X(99)91232-9 [pii]
PST - ppublish
SO  - Biochem Biophys Res Commun. 1999 Aug 27;262(2):504-8. doi:
      10.1006/bbrc.1999.1232.