(Q34524337)

2 August 2017

1 reference

title

Friedreich ataxia: a paradigm for mitochondrial diseases (English)

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2 August 2017

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0 references

Hélène Puccio

1

1 reference

PubMed ID

12076669

2 August 2017

Michel Koenig

series ordinal

2

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2 August 2017

1 June 2002

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Current Opinion in Genetics & Development

2 August 2017

1 reference

2 August 2017

12

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2 August 2017

3

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2 August 2017

272-277

1 reference

Clinical and genetic abnormalities in patients with Friedreich's ataxia

2 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

Friedreich ataxia: from GAA triplet-repeat expansion to frataxin deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

The yeast frataxin homologue mediates mitochondrial iron efflux. Evidence for a mitochondrial iron cycle

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

Mitochondrial control of iron homeostasis. A genome wide analysis of gene expression in a yeast frataxin-deficient strain

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

Human frataxin maintains mitochondrial iron homeostasis in Saccharomyces cerevisiae.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

Increased serum transferrin receptor concentrations in Friedreich ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

Low iron concentration and aconitase deficiency in a yeast frataxin homologue deficient strain

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

A regulated RNA binding protein also possesses aconitase activity

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

The ABC transporter Atm1p is required for mitochondrial iron homeostasis

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

The mitochondrial proteins Atm1p and Nfs1p are essential for biogenesis of cytosolic Fe/S proteins

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

The mitochondrial proteins Ssq1 and Jac1 are required for the assembly of iron sulfur clusters in mitochondria

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

The phylogenetic distribution of frataxin indicates a role in iron-sulfur cluster protein assembly

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

CCC1 suppresses mitochondrial damage in the yeast model of Friedreich's ataxia by limiting mitochondrial iron accumulation

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

Iron-dependent self-assembly of recombinant yeast frataxin: implications for Friedreich ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

Crystal structure of human frataxin

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

Oxidative stress in patients with Friedreich ataxia.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

Increased levels of plasma malondialdehyde in Friedreich ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

Glutathione in blood of patients with Friedreich's ataxia.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

Glutathione and glutathione-dependent enzymes represent a co-ordinately regulated defence against oxidative stress.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

Disabled early recruitment of antioxidant defenses in Friedreich's ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

Manganese superoxide dismutase induction by iron is impaired in Friedreich ataxia cells

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

Frataxin knockin mouse

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

Rescue of the Friedreich's ataxia knockout mouse by human YAC transgenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

Normal serum iron and ferritin concentrations in patients with Friedreich's ataxia.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

Quinone analogs prevent enzymes targeted in Friedreich ataxia from iron-induced injury in vitro

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

Heart hypertrophy and function are improved by idebenone in Friedreich's ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

Antioxidant treatment improves in vivo cardiac and skeletal muscle bioenergetics in patients with Friedreich's ataxia

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900298-8

7 January 2021

10.1016/S0959-437X(02)00298-8

Identifiers

DOI

1 reference

2 August 2017

1 reference

PubMed ID

12076669