Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders
about
Human and great ape red blood cells differ in plasmalogen levels and compositionIdentification of differences in human and great ape phytanic acid metabolism that could influence gene expression profiles and physiological functionsSen1, the homolog of human Senataxin, is critical for cell survival through regulation of redox homeostasis, mitochondrial function, and the TOR pathway in Saccharomyces cerevisiaeDiverse captive non-human primates with phytanic acid-deficient diets rich in plant products have substantial phytanic acid levels in their red blood cellsCharacterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients.A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian populationNonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutationsInduced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities.Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6The gene expression profiles of induced pluripotent stem cells from individuals with childhood cerebral adrenoleukodystrophy are consistent with proposed mechanisms of pathogenesisPeroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelinesPeroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives.A Drosophila model for the Zellweger spectrum of peroxisome biogenesis disorders.Spectrum of PEX1 and PEX6 variants in Heimler syndrome.Diagnosis of a mild peroxisomal phenotype with next-generation sequencing.A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders.Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.Pexophagy: Molecular Mechanisms and Implications for Health and Diseases.Peroxisome biogenesis disorders.
P2860
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P2860
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders
description
2009 nî lūn-bûn
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2009 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի մարտին հրատարակված գիտական հոդված
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2009年の論文
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2009年学术文章
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2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
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name
Identification of novel mutati ...... eroxisome biogenesis disorders
@ast
Identification of novel mutati ...... eroxisome biogenesis disorders
@en
Identification of novel mutati ...... eroxisome biogenesis disorders
@nl
type
label
Identification of novel mutati ...... eroxisome biogenesis disorders
@ast
Identification of novel mutati ...... eroxisome biogenesis disorders
@en
Identification of novel mutati ...... eroxisome biogenesis disorders
@nl
prefLabel
Identification of novel mutati ...... eroxisome biogenesis disorders
@ast
Identification of novel mutati ...... eroxisome biogenesis disorders
@en
Identification of novel mutati ...... eroxisome biogenesis disorders
@nl
P2093
P2860
P3181
P356
P1433
P1476
Identification of novel mutati ...... eroxisome biogenesis disorders
@en
P2093
Ann B Moser
Hugo W Moser
Joseph G Hacia
Steven J Steinberg
Wing Yan Yik
P2860
P304
P3181
P356
10.1002/HUMU.20932
P407
P577
2009-03-01T00:00:00Z