Excision of Expanded GAA Repeats Alleviates the Molecular Phenotype of Friedreich's Ataxia.
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Utility of Induced Pluripotent Stem Cells for the Study and Treatment of Genetic Diseases: Focus on Childhood Neurological DisordersContracting CAG/CTG repeats using the CRISPR-Cas9 nickase.Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locus.Gene Transfer of Brain-derived Neurotrophic Factor (BDNF) Prevents Neurodegeneration Triggered by FXN DeficiencyStalled DNA Replication Forks at the Endogenous GAA Repeats Drive Repeat Expansion in Friedreich's Ataxia Cells.Emerging therapies in Friedreich's ataxia.Friedreich Ataxia: current status and future prospects.Establishment and Maintenance of Primary Fibroblast Repositories for Rare Diseases-Friedreich's Ataxia Example.Modeling simple repeat expansion diseases with iPSC technology.Pharmacological therapeutics in Friedreich ataxia: the present state.TGC repeat expansion in the TCF4 gene increases the risk of Fuchs' endothelial corneal dystrophy in Australian cases.Deep sequencing of mitochondrial genomes reveals increased mutation load in Friedreich's ataxia.Genome engineering: a new approach to gene therapy for neuromuscular disorders.Comprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers.Early cerebellar deficits in mitochondrial biogenesis and respiratory chain complexes in the KIKO mouse model of Friedreich ataxia.Somatic instability of the expanded GAA repeats in Friedreich's ataxia.Alleviating GAA Repeat Induced Transcriptional Silencing of the Friedreich's Ataxia Gene During Somatic Cell Reprogramming.Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle.Clinical and genetic aspects of defects in the mitochondrial iron-sulfur cluster synthesis pathway.
P2860
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P2860
Excision of Expanded GAA Repeats Alleviates the Molecular Phenotype of Friedreich's Ataxia.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Excision of Expanded GAA Repea ...... notype of Friedreich's Ataxia.
@en
Excision of Expanded GAA Repea ...... notype of Friedreich's Ataxia.
@nl
type
label
Excision of Expanded GAA Repea ...... notype of Friedreich's Ataxia.
@en
Excision of Expanded GAA Repea ...... notype of Friedreich's Ataxia.
@nl
prefLabel
Excision of Expanded GAA Repea ...... notype of Friedreich's Ataxia.
@en
Excision of Expanded GAA Repea ...... notype of Friedreich's Ataxia.
@nl
P2093
P2860
P356
P1433
P1476
Excision of Expanded GAA Repea ...... enotype of Friedreich's Ataxia
@en
P2093
Angela D Bhalla
David R Lynch
Jill Sergesketter Butler
Marek Napierala
Natalia Rozwadowska
Urszula Polak
P2860
P304
P356
10.1038/MT.2015.41
P50
P577
2015-03-11T00:00:00Z