Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor
about
Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D.Identification and characterization of the human orthologue of yeast Pex14pPurification, molecular cloning, and expression of 2-hydroxyphytanoyl-CoA lyase, a peroxisomal thiamine pyrophosphate-dependent enzyme that catalyzes the carbon-carbon bond cleavage during alpha-oxidation of 3-methyl-branched fatty acidsPEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein importTwo different targeting signals direct human peroxisomal membrane protein 22 to peroxisomesFunctional studies on human Pex7p: subcellular localization and interaction with proteins containing a peroxisome-targeting signal type 2 and other peroxinsThe putative peroxisomal gene Pxt1 is exclusively expressed in the testisAlkyl-dihydroxyacetonephosphate synthase. Fate in peroxisome biogenesis disorders and identification of the point mutation underlying a single enzyme deficiencyCloning and characterization of the gene encoding the human peroxisomal assembly protein Pex3pIdentification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disordersClofibrate-inducible, 28-kDa peroxisomal integral membrane protein is encoded by PEX11Identification of PEX7 as the second gene involved in Refsum diseasePEX12, the pathogenic gene of group III Zellweger syndrome: cDNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of PEX12pCohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transportPeroxisome targeting signal type 1 (PTS1) receptor is involved in import of both PTS1 and PTS2: studies with PEX5-defective CHO cell mutants.Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disordersPEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders.Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group IPeroxisomes in brain development and functionCrystal structure of peroxisomal targeting signal-2 bound to its receptor complex Pex7p-Pex21pPex7p translocates in and out of peroxisomes in Saccharomyces cerevisiaeSaccharomyces cerevisiae acyl-CoA oxidase follows a novel, non-PTS1, import pathway into peroxisomes that is dependent on Pex5p.Pex18p and Pex21p, a novel pair of related peroxins essential for peroxisomal targeting by the PTS2 pathway.The peroxin Pex14p. cDNA cloning by functional complementation on a Chinese hamster ovary cell mutant, characterization, and functional analysisRefsum disease is caused by mutations in the phytanoyl-CoA hydroxylase geneAlkyl-glycerol rescues plasmalogen levels and pathology of ether-phospholipid deficient miceThe pathologic effect of a novel neomorphic Fgf9(Y162C) allele is restricted to decreased vision and retarded lens growthA mouse model for Zellweger syndromeAlkyl-dihydroxyacetone phosphate synthase and dihydroxyacetone phosphate acyltransferase form a protein complex in peroxisomesCysteine ubiquitination of PTS1 receptor Pex5p regulates Pex5p recycling.Chondrodysplasia punctata stemming from maternal lupus erythematosus.SubcloneSeeker: a computational framework for reconstructing tumor clone structure for cancer variant interpretation and prioritization.Homeostasis of phospholipids - The level of phosphatidylethanolamine tightly adapts to changes in ethanolamine plasmalogens.Adrenoleukodystrophy and related disorders.Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders.Lethal form of chondrodysplasia punctata with normal plasmalogen and cholesterol biosynthesis.Paul Dyken Lecture of the Southern Pediatric Neurology Society. Inherited neurodegenerative disease: the evolution of our thinking.Chondrodysplasia punctata and maternal systemic lupus erythematosus.The Arabidopsis peroxisomal targeting signal type 2 receptor PEX7 is necessary for peroxisome function and dependent on PEX5.Peroxisome biogenesis and peroxisome biogenesis disorders.
P2860
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P2860
Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor
description
1997 nî lūn-bûn
@nan
1997 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Rhizomelic chondrodysplasia pu ...... gue of the yeast PTS2 receptor
@ast
Rhizomelic chondrodysplasia pu ...... gue of the yeast PTS2 receptor
@en
Rhizomelic chondrodysplasia pu ...... gue of the yeast PTS2 receptor
@en-gb
Rhizomelic chondrodysplasia pu ...... gue of the yeast PTS2 receptor
@nl
type
label
Rhizomelic chondrodysplasia pu ...... gue of the yeast PTS2 receptor
@ast
Rhizomelic chondrodysplasia pu ...... gue of the yeast PTS2 receptor
@en
Rhizomelic chondrodysplasia pu ...... gue of the yeast PTS2 receptor
@en-gb
Rhizomelic chondrodysplasia pu ...... gue of the yeast PTS2 receptor
@nl
prefLabel
Rhizomelic chondrodysplasia pu ...... gue of the yeast PTS2 receptor
@ast
Rhizomelic chondrodysplasia pu ...... gue of the yeast PTS2 receptor
@en
Rhizomelic chondrodysplasia pu ...... gue of the yeast PTS2 receptor
@en-gb
Rhizomelic chondrodysplasia pu ...... gue of the yeast PTS2 receptor
@nl
P2093
P2860
P356
P1433
P1476
Rhizomelic chondrodysplasia pu ...... gue of the yeast PTS2 receptor
@en
P2093
P B Lazarow
P E Purdue
P2860
P2888
P356
10.1038/NG0497-381
P407
P577
1997-04-01T00:00:00Z
P5875
P6179
1016834329