Frataxin knockin mouse (Q57950173)

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7 December 2019

title

Frataxin knockin mouse (English)

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7 December 2019

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9

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7 December 2019

author name string

Carlos J Miranda

1

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7 December 2019

Manuela M Santos

2

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7 December 2019

Keiichi Ohshima

3

1 reference

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7 December 2019

Julie Smith

4

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7 December 2019

Liangtao Li

5

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7 December 2019

Michaeline Bunting

6

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7 December 2019

Mireille Cossée

7

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7 December 2019

Michael Koenig

8

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7 December 2019

Jerry Kaplan

10

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7 December 2019

Massimo Pandolfo

11

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7 December 2019

language of work or name

English

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publication date

1 February 2002

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7 December 2019

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7 December 2019

volume

512

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7 December 2019

issue

1-3

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7 December 2019

page(s)

291-297

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

7 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2802%2902251-2

The heart in Friedreich's ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2802%2902251-2

Classification of the hereditary ataxias and paraplegias

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2802%2902251-2

Clinical and genetic abnormalities in patients with Friedreich's ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2802%2902251-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2802%2902251-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2802%2902251-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2802%2902251-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2802%2902251-2

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

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2802%2902251-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2802%2902251-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2802%2902251-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2802%2902251-2

Human frataxin maintains mitochondrial iron homeostasis in Saccharomyces cerevisiae.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2802%2902251-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2802%2902251-2

Friedreich ataxia: an overview

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2802%2902251-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2802%2902251-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2802%2902251-2

Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis of sperm from patients with Friedreich's ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2802%2902251-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2802%2902251-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2802%2902251-2

Friedreich's ataxia: a descriptive epidemiological study in an Italian population

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2802%2902251-2

Clinical Description and Roentgenologic Evaluation of Patients with Friedreich's Ataxia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2802%2902251-2

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2802%2902251-2

Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2802%2902251-2

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2802%2902251-2

Adaptive Response of Iron Absorption to Anemia, Increased Erythropoiesis, Iron Deficiency, and Iron Loading in β2-Microglobulin Knockout Mice

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2802%2902251-2

Somatic sequence variation at the Friedreich ataxia locus includes complete contraction of the expanded GAA triplet repeat, significant length variation in serially passaged lymphoblasts and enhanced mutagenesis in the flanking sequence

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2802%2902251-2

A nonpathogenic GAAGGA repeat in the Friedreich gene: implications for pathogenesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2802%2902251-2

Development of a sensitive reverse transcriptase PCR assay, RT-RPCR, utilizing rapid cycle times

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0014-5793%2802%2902251-2

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0014-5793(02)02251-2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11852098%20AND%20SRC:MED&resulttype=core&format=json

7 December 2019

1 reference