(Q28505173)

English

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

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scholarly article

1 reference

24 January 2017

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

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24 January 2017

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GOA release 2020-03-11

Friedreich ataxia

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inferred from title

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object named as

H. Puccio

1

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author name string

D. Simon

2

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24 January 2017

M. Cossée

3

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24 January 2017

P. Criqui-Filipe

4

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24 January 2017

F. Tiziano

5

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24 January 2017

J. Melki

6

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24 January 2017

C. Hindelang

7

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24 January 2017

R. Matyas

8

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24 January 2017

P. Rustin

9

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24 January 2017

M. Koenig

10

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24 January 2017

language of work or name

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publication date

1 February 2001

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24 January 2017

Nature Genetics

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24 January 2017

27

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24 January 2017

181–186

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24 January 2017

2

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24 January 2017

Clinical and genetic abnormalities in patients with Friedreich's ataxia

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https://api.crossref.org/works/10.1038%2F84818

7 January 2021

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inferred from DOI database lookup

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

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https://api.crossref.org/works/10.1038%2F84818

7 January 2021

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

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https://api.crossref.org/works/10.1038%2F84818

7 January 2021

based on heuristic

inferred from DOI database lookup

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

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https://api.crossref.org/works/10.1038%2F84818

7 January 2021

based on heuristic

inferred from DOI database lookup

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

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https://api.crossref.org/works/10.1038%2F84818

7 January 2021

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Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia

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https://api.crossref.org/works/10.1038%2F84818

7 January 2021

based on heuristic

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

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https://api.crossref.org/works/10.1038%2F84818

7 January 2021

based on heuristic

inferred from DOI database lookup

Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression.

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https://api.crossref.org/works/10.1038%2F84818

7 January 2021

based on heuristic

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Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy

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https://api.crossref.org/works/10.1038%2F84818

7 January 2021

based on heuristic

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Impaired mitochondrial beta-oxidation in a patient with an abnormality of the respiratory chain. Studies in skeletal muscle mitochondria

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https://api.crossref.org/works/10.1038%2F84818

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1038%2F84818

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1038%2F84818

7 January 2021

based on heuristic

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

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https://api.crossref.org/works/10.1038%2F84818

7 January 2021

based on heuristic

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Crystal structure of human frataxin

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https://api.crossref.org/works/10.1038%2F84818

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1038%2F84818

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1038%2F84818

7 January 2021

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

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https://api.crossref.org/works/10.1038%2F84818

7 January 2021

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

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https://api.crossref.org/works/10.1038%2F84818

7 January 2021

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Biochemical and molecular investigations in respiratory chain deficiencies

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https://api.crossref.org/works/10.1038%2F84818

7 January 2021

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Cardiovascular phenotyping in mice

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https://api.crossref.org/works/10.1038%2F84818

7 January 2021

based on heuristic

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Neuromyopathy and vitamin E deficiency in man

1 reference

https://api.crossref.org/works/10.1038%2F84818

7 January 2021

based on heuristic

inferred from DOI database lookup

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