The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum
about
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.The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder.Sen1, the homolog of human Senataxin, is critical for cell survival through regulation of redox homeostasis, mitochondrial function, and the TOR pathway in Saccharomyces cerevisiaeIdentification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disordersGenomic signatures of near-extinction and rebirth of the crested ibis and other endangered bird species.Peripheral nervous system defects in a mouse model for peroxisomal biogenesis disorders.A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian populationBlind sterile 2 (bs2), a hypomorphic mutation in Agps, results in cataracts and male sterility in mice.Rational diagnostic strategy for Zellweger syndrome spectrum patientsNonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutationsDeletion of a single allele of the Pex11β gene is sufficient to cause oxidative stress, delayed differentiation and neuronal death in mouse brainHeimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6Adolescents with or at ultra-high risk for bipolar disorder exhibit erythrocyte docosahexaenoic acid and eicosapentaenoic acid deficits: a candidate prodromal risk biomarker.Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives.A Drosophila model for the Zellweger spectrum of peroxisome biogenesis disorders.Increasing acetyl-CoA metabolism attenuates injury and alters spinal cord lipid content in mice subjected to experimental autoimmune encephalomyelitis.Clinical utility gene card for: Zellweger syndrome spectrum.Polyunsaturated fatty acids and recurrent mood disorders: Phenomenology, mechanisms, and clinical application.A novel mutation in the PEX12 gene causing a peroxisomal biogenesis disorder.Diagnosis of a mild peroxisomal phenotype with next-generation sequencing.Lymphoblastoid cell lines for diagnosis of peroxisome biogenesis disorders.Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder.Pristanic acid provokes lipid, protein, and DNA oxidative damage and reduces the antioxidant defenses in cerebellum of young rats.A deleterious mutation in the PEX2 gene causes Zellweger syndrome in individuals of Ashkenazi Jewish descent.Antenatal manifestations of inborn errors of metabolism: biological diagnosis.Peroxisome biogenesis disorders.
P2860
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P2860
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum
description
2004 nî lūn-bûn
@nan
2004 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2004年の論文
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2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
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2004年论文
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name
The PEX Gene Screen: molecular ...... he Zellweger syndrome spectrum
@ast
The PEX Gene Screen: molecular ...... he Zellweger syndrome spectrum
@en
The PEX Gene Screen: molecular ...... he Zellweger syndrome spectrum
@nl
type
label
The PEX Gene Screen: molecular ...... he Zellweger syndrome spectrum
@ast
The PEX Gene Screen: molecular ...... he Zellweger syndrome spectrum
@en
The PEX Gene Screen: molecular ...... he Zellweger syndrome spectrum
@nl
prefLabel
The PEX Gene Screen: molecular ...... he Zellweger syndrome spectrum
@ast
The PEX Gene Screen: molecular ...... he Zellweger syndrome spectrum
@en
The PEX Gene Screen: molecular ...... he Zellweger syndrome spectrum
@nl
P2093
P3181
P1476
The PEX Gene Screen: molecular ...... he Zellweger syndrome spectrum
@en
P2093
Garry Cutting
Hugo Moser
Liumei Wei
Nancy Braverman
Steven Steinberg
P304
P3181
P356
10.1016/J.YMGME.2004.08.008
P407
P577
2004-11-01T00:00:00Z