Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders
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Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D.PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein importMutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complexNDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I 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 PEX11PEX12, the pathogenic gene of group III Zellweger syndrome: cDNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of PEX12pPhenotype-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 IDisruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum diseaseSPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing lossThe peroxin Pex14p. cDNA cloning by functional complementation on a Chinese hamster ovary cell mutant, characterization, and functional analysisCatalase-less peroxisomes. Implication in the milder forms of peroxisome biogenesis disorderPEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of diseaseNovel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patientsGenomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders.Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions.Peroxisome biogenesis and peroxisome biogenesis disorders.Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients.Therapeutic developments in peroxisome biogenesis disorders.Shuttling mechanism of peroxisome targeting signal type 1 receptor Pex5: ATP-independent import and ATP-dependent export.Genetic and molecular bases of peroxisome biogenesis disorders.AAA+ ATPases: achieving diversity of function with conserved machinery.Peroxisome biogenesis and human peroxisome-deficiency disorders.Stress induces peroxisome biogenesis genes.Domain mapping of human PEX5 reveals functional and structural similarities to Saccharomyces cerevisiae Pex18p and Pex21p.Newly identified Chinese hamster ovary cell mutants are defective in biogenesis of peroxisomal membrane vesicles (Peroxisomal ghosts), representing a novel complementation group in mammals.Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders.Redox Regulation of Homeostasis and Proteostasis in Peroxisomes.Hansenula polymorpha Pex1p and Pex6p are peroxisome-associated AAA proteins that functionally and physically interact.Recruiting mechanism of the AAA peroxins, Pex1p and Pex6p, to Pex26p on the peroxisomal membrane.Diagnosis and follow-up of a case of peroxisomal disorder with peroxisomal mosaicismStructure of the N-terminal domain of PEX1 AAA-ATPase. Characterization of a putative adaptor-binding domain
P2860
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P2860
Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders
description
1997 nî lūn-bûn
@nan
1997 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի դեկտեմբերին 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
Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders
@ast
Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders
@en
Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders
@nl
type
label
Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders
@ast
Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders
@en
Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders
@nl
prefLabel
Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders
@ast
Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders
@en
Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders
@nl
P2093
P3181
P356
P1433
P1476
Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders
@en
P2093
P2888
P304
P3181
P356
10.1038/NG1297-449
P407
P50
P577
1997-12-01T00:00:00Z