(Q53672316)

17 May 2018

title

Molecular and functional characterization of a human frataxin mutation found in hypertrophic cardiomyopathy. (English)

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17 May 2018

5

Michael J Ackerman

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17 May 2018

author name string

Sara L Van Driest

1

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17 May 2018

Oleksandr Gakh

2

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17 May 2018

Steve R Ommen

3

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17 May 2018

Grazia Isaya

4

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17 May 2018

publication date

1 August 2005

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17 May 2018

Molecular Genetics and Metabolism

published in

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17 May 2018

volume

85

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17 May 2018

page(s)

280-285

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17 May 2018

issue

4

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17 May 2018

Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults

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Hypertrophic cardiomyopathy: two homozygous cases with "typical" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy

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Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology

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A novel TPM1 mutation in a family with hypertrophic cardiomyopathy and sudden cardiac death in childhood

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Frataxin and frataxin deficiency in Friedreich's ataxia

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Yeast Frataxin Sequentially Chaperones and Stores Iron by Coupling Protein Assembly with Iron Oxidation

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

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Frataxin acts as an iron chaperone protein to modulate mitochondrial aconitase activity

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Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy.

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Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.

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

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A novel mutation in KVLQT1 is the molecular basis of inherited long QT syndrome in a near-drowning patient's family.

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Two-step processing of human frataxin by mitochondrial processing peptidase. Precursor and intermediate forms are cleaved at different rates

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Human frataxin maintains mitochondrial iron homeostasis in Saccharomyces cerevisiae.

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Reduction in frataxin causes progressive accumulation of mitochondrial damage.

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Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase

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

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Co-existence of frataxin and cardiac troponin T gene mutations in a child with Friedreich Ataxia and familial hypertrophic cardiomyopathy

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Hypertrophic cardiomyopathy:a paradigm for myocardial energy depletion

7 January 2021

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Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways

7 January 2021

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10.1016/J.YMGME.2005.04.010

7 January 2021

Identifiers

DOI

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17 May 2018

PubMed ID

15936968

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17 May 2018