Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations
about
Human and great ape red blood cells differ in plasmalogen levels and compositionA lack of premature termination codon read-through efficacy of PTC124 (Ataluren) in a diverse array of reporter assaysEvaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage DiseasesAminoglycosides, but not PTC124 (Ataluren), rescue nonsense mutations in the leptin receptor and in luciferase reporter genes.A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population5-azacytidine inhibits nonsense-mediated decay in a MYC-dependent fashion.Nonsense-mediated decay in genetic disease: friend or foe?Suppression of nonsense mutations as a therapeutic approach to treat genetic diseases.Induced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities.Rescue of nonsense mutations by amlexanox in human cells.Therapeutics based on stop codon readthrough.Ataluren as an agent for therapeutic nonsense suppression.Readthrough strategies for therapeutic suppression of nonsense mutations in inherited metabolic disease.Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives.Nonsense suppression therapies in ocular genetic diseases.A Drosophila model for the Zellweger spectrum of peroxisome biogenesis disorders.A flow cytometry-based reporter assay identifies macrolide antibiotics as nonsense mutation read-through agents.Readthrough of long-QT syndrome type 1 nonsense mutations rescues function but alters the biophysical properties of the channel.In vitro read-through of phenylalanine hydroxylase (PAH) nonsense mutations using aminoglycosides: a potential therapy for phenylketonuria.Optimized approach for the identification of highly efficient correctors of nonsense mutations in human diseases.Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia.Peroxisome biogenesis disorders.
P2860
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P2860
Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations
description
2011 nî lūn-bûn
@nan
2011 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2011年の論文
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2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Nonsense suppressor therapies ...... th specific PEX gene mutations
@ast
Nonsense suppressor therapies ...... th specific PEX gene mutations
@en
type
label
Nonsense suppressor therapies ...... th specific PEX gene mutations
@ast
Nonsense suppressor therapies ...... th specific PEX gene mutations
@en
prefLabel
Nonsense suppressor therapies ...... th specific PEX gene mutations
@ast
Nonsense suppressor therapies ...... th specific PEX gene mutations
@en
P2093
P2860
P356
P1476
Nonsense suppressor therapies ...... th specific PEX gene mutations
@en
P2093
Ann Snowden
Erminia Di Pietro
Joseph G Hacia
Nancy E Braverman
Nathan Oesch
Patricia K Dranchak
Steven J Steinberg
P2860
P304
P356
10.1002/JCB.22979
P577
2011-05-01T00:00:00Z