(Q34464836)

2 August 2017

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title

Molecular basis of Friedreich ataxia (English)

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2 August 2017

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Pandolfo M

1

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2 August 2017

language of work or name

English

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publication date

1 September 2001

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2 August 2017

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2 August 2017

volume

16

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2 August 2017

issue

5

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2 August 2017

page(s)

815-821

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Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

2 August 2017

cites work

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Frataxin shows developmentally regulated tissue-specific expression in the mouse embryo

21 January 2018

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Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin

21 January 2018

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Somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions in the central nervous system.

21 January 2018

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Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations

21 January 2018

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Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat

21 January 2018

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The Friedreich ataxia GAA triplet repeat: premutation and normal alleles.

21 January 2018

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Unique origin and specific ethnic distribution of the Friedreich ataxia GAA expansion

21 January 2018

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Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes

21 January 2018

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Sticky DNA: self-association properties of long GAA.TTC repeats in R.R.Y triplex structures from Friedreich's ataxia.

21 January 2018

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Specific inhibition of transcription by triple helix-forming oligonucleotides

21 January 2018

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Inhibitory effects of expanded GAA.TTC triplet repeats from intron I of the Friedreich ataxia gene on transcription and replication in vivo

21 January 2018

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The GAA*TTC triplet repeat expanded in Friedreich's ataxia impedes transcription elongation by T7 RNA polymerase in a length and supercoil dependent manner

21 January 2018

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Clinical and genetic abnormalities in patients with Friedreich's ataxia

21 January 2018

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Identification and sizing of the GAA trinucleotide repeat expansion of Friedreich's ataxia in 56 patients. Clinical and genetic correlates

21 January 2018

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Friedreich's ataxia. Revision of the phenotype according to molecular genetics.

21 January 2018

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Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes

21 January 2018

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Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation

21 January 2018

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Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin

21 January 2018

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Yeast and human frataxin are processed to mature form in two sequential steps by the mitochondrial processing peptidase.

21 January 2018

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Maturation of frataxin within mammalian and yeast mitochondria: one-step processing by matrix processing peptidase

21 January 2018

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Mt-Hsp70 homolog, Ssc2p, required for maturation of yeast frataxin and mitochondrial iron homeostasis

21 January 2018

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Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue

21 January 2018

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Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia

21 January 2018

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Superoxide radical and iron modulate aconitase activity in mammalian cells

21 January 2018

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The essential role of mitochondria in the biogenesis of cellular iron-sulfur proteins

21 January 2018

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Towards a structural understanding of Friedreich's ataxia: the solution structure of frataxin

21 January 2018

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Crystal structure of human frataxin

21 January 2018

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Crystal structure of Escherichia coli CyaY protein reveals a previously unidentified fold for the evolutionarily conserved frataxin family

21 January 2018

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Increased iron in the dentate nucleus of patients with Friedrich's ataxia

21 January 2018

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The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis

21 January 2018

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Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families

21 January 2018

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Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia

21 January 2018

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Molecular control of vertebrate iron metabolism: mRNA-based regulatory circuits operated by iron, nitric oxide, and oxidative stress

21 January 2018

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Influence of GAA expansion size and disease duration on central nervous system impairment in Friedreich's ataxia: contribution to the understanding of the pathophysiology of the disease.

21 January 2018

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Overexpression of BCL-2 in transgenic mice protects neurons from naturally occurring cell death and experimental ischemia

21 January 2018

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Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits

21 January 2018

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Mapping of mutation causing Friedreich's ataxia to human chromosome 9

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/MDS.1162

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release_6spqrilemvfiln6yvmzbcbdkne

2 August 2017

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/6spqrilemvfiln6yvmzbcbdkne

mapped directly with Wikidata item

24 November 2022

based on heuristic

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