Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation
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Mutations 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 complexAlternative splicing suggests extended function of PEX26 in peroxisome biogenesis.Peroxisomes in brain development and functionFunctional association of the AAA complex and the peroxisomal importomer.Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disordersRecovery of PEX1-Gly843Asp peroxisome dysfunction by small-molecule compounds.Shuttling mechanism of peroxisome targeting signal type 1 receptor Pex5: ATP-independent import and ATP-dependent export.Rational diagnostic strategy for Zellweger syndrome spectrum patientsInduced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities.Peroxisome biogenesis and human peroxisome-deficiency disorders.The exportomer: the peroxisomal receptor export machinery.AAA peroxins and their recruiter Pex26p modulate the interactions of peroxins involved in peroxisomal protein import.Multiple pathways for protein transport to peroxisomes.Distinct modes of ubiquitination of peroxisome-targeting signal type 1 (PTS1) receptor Pex5p regulate PTS1 protein import.Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.Prenatal observation of nystagmus, cataracts, and brain abnormalities in a case of Zellweger spectrum disorder syndrome.Pexophagy: Molecular Mechanisms and Implications for Health and Diseases.Recruiting mechanism of the AAA peroxins, Pex1p and Pex6p, to Pex26p on the peroxisomal membrane.
P2860
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P2860
Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation
description
2003 nî lūn-bûn
@nan
2003 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年学术文章
@wuu
2003年学术文章
@zh-cn
2003年学术文章
@zh-hans
2003年学术文章
@zh-my
2003年学术文章
@zh-sg
2003年學術文章
@yue
name
Mutations in novel peroxin gen ...... genotype-phenotype correlation
@ast
Mutations in novel peroxin gen ...... genotype-phenotype correlation
@en
Mutations in novel peroxin gen ...... genotype-phenotype correlation
@en-gb
Mutations in novel peroxin gen ...... genotype-phenotype correlation
@nl
type
label
Mutations in novel peroxin gen ...... genotype-phenotype correlation
@ast
Mutations in novel peroxin gen ...... genotype-phenotype correlation
@en
Mutations in novel peroxin gen ...... genotype-phenotype correlation
@en-gb
Mutations in novel peroxin gen ...... genotype-phenotype correlation
@nl
prefLabel
Mutations in novel peroxin gen ...... genotype-phenotype correlation
@ast
Mutations in novel peroxin gen ...... genotype-phenotype correlation
@en
Mutations in novel peroxin gen ...... genotype-phenotype correlation
@en-gb
Mutations in novel peroxin gen ...... genotype-phenotype correlation
@nl
P2093
P2860
P356
P1476
Mutations in novel peroxin gen ...... genotype-phenotype correlation
@en
P2093
Hugo W Moser
Naomi Kondo
Naomi Matsumoto
Nobuyuki Shimozawa
Non Miyata
Satomi Furuki
Shigehiko Tamura
Yasuyuki Suzuki
Yukio Fujiki
P2860
P304
P356
10.1086/377004
P407
P577
2003-08-01T00:00:00Z