about
Salmonella enterica strains lacking the frataxin homolog CyaY show defects in Fe-S cluster metabolism in vivo.Deficiency in 3'-phosphoglycolate processing in human cells with a hereditary mutation in tyrosyl-DNA phosphodiesterase (TDP1)Influence of Friedreich ataxia GAA noncoding repeat expansions on pre-mRNA processingEffects of the deletion of the Escherichia coli frataxin homologue CyaY on the respiratory NADH:ubiquinone oxidoreductaseGAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology.MutLα heterodimers modify the molecular phenotype of Friedreich ataxia.Cellular, molecular and functional characterisation of YAC transgenic mouse models of Friedreich ataxia.Repeat expansion affects both transcription initiation and elongation in friedreich ataxia cellsConsensus clinical management guidelines for Friedreich ataxia.A novel GAA-repeat-expansion-based mouse model of Friedreich's ataxiaRepeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxiaEpigenetics in Friedreich's Ataxia: Challenges and Opportunities for Therapy.Central role and mechanisms of β-cell dysfunction and death in friedreich ataxia-associated diabetes.The biological effects of simple tandem repeats: lessons from the repeat expansion diseases.Research on plants for the understanding of diseases of nuclear and mitochondrial origin.Establishment and Maintenance of Primary Fibroblast Repositories for Rare Diseases-Friedreich's Ataxia Example.Effects of Friedreich's ataxia GAA repeats on DNA replication in mammalian cellsEffects of Friedreich's ataxia (GAA)n*(TTC)n repeats on RNA synthesis and stability.Complexes between two GAA Repeats within DNA introduced into Cos-1 cells.Large-scale expansions of Friedreich's ataxia GAA repeats in yeast.Inducible and reversible phenotypes in a novel mouse model of Friedreich's Ataxia.Nanopore sequencing of complex genomic rearrangements in yeast reveals mechanisms of repeat-mediated double-strand break repair.Optimizing mouse models of neurodegenerative disorders: are therapeutics in sight?
P2860
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P2860
description
2002 nî lūn-bûn
@nan
2002 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
The molecular basis of Friedreich ataxia.
@ast
The molecular basis of Friedreich ataxia.
@en
type
label
The molecular basis of Friedreich ataxia.
@ast
The molecular basis of Friedreich ataxia.
@en
prefLabel
The molecular basis of Friedreich ataxia.
@ast
The molecular basis of Friedreich ataxia.
@en
P1476
The molecular basis of Friedreich ataxia
@en
P2093
Massimo Pandolfo
P304
P356
10.1007/978-1-4615-0117-6_5
P407
P577
2002-01-01T00:00:00Z