(Q45875661)

17 December 2017

title

Human BAC-mediated rescue of the Friedreich ataxia knockout mutation in transgenic mice (English)

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17 December 2017

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Joseph P Sarsero

1

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17 December 2017

Lingli Li

2

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17 December 2017

Timothy P Holloway

3

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17 December 2017

Lucille Voullaire

4

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17 December 2017

Sophie Gazeas

5

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17 December 2017

Kerry J Fowler

6

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17 December 2017

Denise M Kirby

7

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17 December 2017

David R Thorburn

8

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17 December 2017

Adam Galle

9

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17 December 2017

Surindar Cheema

10

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17 December 2017

Michel Koenig

11

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17 December 2017

Robert Williamson

12

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17 December 2017

Panos A Ioannou

13

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17 December 2017

language of work or name

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1 May 2004

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17 December 2017

number of pages

13

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inferred from page(s)

published in

Mammalian Genome

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17 December 2017

volume

15

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17 December 2017

issue

5

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17 December 2017

page(s)

370-382

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17 December 2017

https://scigraph.springernature.com/pub.10.1007/s00335-004-3019-3

exact match

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cites work

A physical map of the human genome

1 reference

12 December 2020

The ferroxidase activity of yeast frataxin

1 reference

12 December 2020

Targeted modification of a human beta-globin locus BAC clone using GET Recombination and an I-Scei counterselection cassette.

1 reference

12 December 2020

Inhibition of Fe-S cluster biosynthesis decreases mitochondrial iron export: evidence that Yfh1p affects Fe-S cluster synthesis

1 reference

12 December 2020

Iron use for haeme synthesis is under control of the yeast frataxin homologue (Yfh1).

1 reference

12 December 2020

Erythroid differentiation and protoporphyrin IX down-regulate frataxin expression in Friend cells: characterization of frataxin expression compared to molecules involved in iron metabolism and hemoglobinization

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12 December 2020

Cloning and stable maintenance of 300-kilobase-pair fragments of human DNA in Escherichia coli using an F-factor-based vector

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12 December 2020

Insertion of modifications in the beta-globin locus using GET recombination with single-stranded oligonucleotides and denatured PCR fragments

1 reference

12 December 2020

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

12 December 2020

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

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12 December 2020

Insertion of common mutations into the human beta-globin locus using GET Recombination and an EcoRI endonuclease counterselection cassette

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12 December 2020

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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12 December 2020

Frataxin knockin mouse

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12 December 2020

Sticky DNA, a self-associated complex formed at long GAA*TTC repeats in intron 1 of the frataxin gene, inhibits transcription

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12 December 2020

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

1 reference

12 December 2020

A non-essential function for yeast frataxin in iron-sulfur cluster assembly

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12 December 2020

Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxia

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12 December 2020

Opposing effects of low and high-dose clozapine on survival of transgenic amyotrophic lateral sclerosis mice

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12 December 2020

Clinical and genetic abnormalities in patients with Friedreich's ataxia

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12 December 2020

The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia

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12 December 2020

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

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12 December 2020

Physical evidence that yeast frataxin is an iron storage protein

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12 December 2020

A new bacteriophage P1-derived vector for the propagation of large human DNA fragments

1 reference

12 December 2020

Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia

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12 December 2020

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

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12 December 2020

Upregulation of expression from the FRDA genomic locus for the therapy of Friedreich ataxia

1 reference

12 December 2020

Efficient and precise engineering of a 200 kb beta-globin human/bacterial artificial chromosome in E. coli DH10B using an inducible homologous recombination system

1 reference

12 December 2020

Human frataxin maintains mitochondrial iron homeostasis in Saccharomyces cerevisiae.

1 reference

12 December 2020

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

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12 December 2020

Rapid modification of bacterial artificial chromosomes by ET-recombination.

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12 December 2020

Differential stability of the (GAA) n tract in the Friedreich ataxia (STM7) gene

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12 December 2020

The Sequence of the Human Genome

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

The yeast frataxin homolog Yfh1p plays a specific role in the maturation of cellular Fe/S proteins

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12 December 2020

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

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12 December 2020

10.1007/S00335-004-3019-3

Identifiers

DOI

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17 December 2017

Dimensions Publication ID

1016470280

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17 December 2017