Peroxisomal assembly defects: clinical, pathologic, and biochemical findings in two patients in a newly identified complementation group.
about
Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D.Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group GHuman peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humansClofibrate-inducible, 28-kDa peroxisomal integral membrane protein is encoded by PEX11PEX12, the pathogenic gene of group III Zellweger syndrome: cDNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of PEX12pPEX3 is the causal gene responsible for peroxisome membrane assembly-defective Zellweger syndrome of complementation group G.The peroxin pex3p initiates membrane assembly in peroxisome biogenesisHuman PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group IThe peroxin Pex14p. cDNA cloning by functional complementation on a Chinese hamster ovary cell mutant, characterization, and functional analysisGenetic and molecular bases of peroxisome biogenesis disorders.Inhibitors of COPI and COPII do not block PEX3-mediated peroxisome synthesis.Oxidation of pristanic acid in fibroblasts and its application to the diagnosis of peroxisomal beta-oxidation defectsZellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails.The role of conserved PEX3 regions in PEX19-binding and peroxisome biogenesis.Newly identified Chinese hamster ovary cell mutants are defective in biogenesis of peroxisomal membrane vesicles (Peroxisomal ghosts), representing a novel complementation group in mammals.Zellweger syndrome and associated phenotypes.Biogenesis of peroxisomes in fetal liver.Components involved in peroxisome import, biogenesis, proliferation, turnover, and movement.Peroxisomal disorders: clinical aspects.
P2860
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P2860
Peroxisomal assembly defects: clinical, pathologic, and biochemical findings in two patients in a newly identified complementation group.
description
1995 nî lūn-bûn
@nan
1995年の論文
@ja
1995年学术文章
@wuu
1995年学术文章
@zh-cn
1995年学术文章
@zh-hans
1995年学术文章
@zh-my
1995年学术文章
@zh-sg
1995年學術文章
@yue
1995年學術文章
@zh
1995年學術文章
@zh-hant
name
Peroxisomal assembly defects: ...... ntified complementation group.
@en
Peroxisomal assembly defects: ...... ntified complementation group.
@nl
type
label
Peroxisomal assembly defects: ...... ntified complementation group.
@en
Peroxisomal assembly defects: ...... ntified complementation group.
@nl
prefLabel
Peroxisomal assembly defects: ...... ntified complementation group.
@en
Peroxisomal assembly defects: ...... ntified complementation group.
@nl
P2093
P1476
Peroxisomal assembly defects: ...... ntified complementation group.
@en
P2093
Goldblatt J
Shimozawa N
P304
P356
10.1016/S0022-3476(95)70121-4
P407
P577
1995-10-01T00:00:00Z