نتایج جستجو برای: frataxin (fxn) gene

تعداد نتایج: 1141685  

2013
Lingli Li Lucille Voullaire Chiranjeevi Sandi Mark A. Pook Panos A. Ioannou Martin B. Delatycki Joseph P. Sarsero

Friedreich ataxia (FRDA) is an autosomal recessive disorder characterized by neurodegeneration and cardiomyopathy. The presence of a GAA trinucleotide repeat expansion in the first intron of the FXN gene results in the inhibition of gene expression and an insufficiency of the mitochondrial protein frataxin. There is a correlation between expansion length, the amount of residual frataxin and the...

Journal: :Genomics 2015
S Pérez-Luz A Gimenez-Cassina I Fernández-Frías R Wade-Martins J Díaz-Nido

Friedreich's ataxia (FRDA) is the most common form of hereditary ataxia caused by recessive mutations in the FXN gene. Recent results have indicated the presence of different frataxin isoforms due to alternative gene expression mechanisms. Our previous studies demonstrated the advantages of using high-capacity herpes simplex virus type 1 (HSV-1) amplicon vectors containing the entire FXN genomi...

2010
Kuanyu Li Anamika Singh Daniel R. Crooks Xiaoman Dai Zhuangzhuang Cong Liang Pan Dung Ha Tracey A. Rouault

BACKGROUND Friedreich ataxia is an autosomal recessive neurodegenerative disease caused by reduced expression levels of the frataxin gene (FXN) due to expansion of triplet nucleotide GAA repeats in the first intron of FXN. Augmentation of frataxin expression levels in affected Friedreich ataxia patient tissues might substantially slow disease progression. METHODOLOGY/PRINCIPAL FINDINGS We uti...

2014
Joseph P. Sarsero Timothy P. Holloway Lingli Li David I. Finkelstein Panos A. Ioannou

Friedreich ataxia (FRDA) is an autosomal recessive disorder characterized by neurodegeneration and cardiomyopathy. The presence of a GAA trinucleotide repeat expansion in the first intron of the FXN gene results in the inhibition of gene expression and an insufficiency of the mitochondrial protein frataxin. We previously generated BAC-based transgenic mice containing an FXN-EGFP genomic reporte...

2014
Chiranjeevi Sandi Madhavi Sandi Sara Anjomani Virmouni Sahar Al-Mahdawi Mark A. Pook

Friedreich ataxia (FRDA) is a lethal autosomal recessive neurodegenerative disorder caused primarily by a homozygous GAA repeat expansion mutation within the first intron of the FXN gene, leading to inhibition of FXN transcription and thus reduced frataxin protein expression. Recent studies have shown that epigenetic marks, comprising chemical modifications of DNA and histones, are associated w...

2013
Chiranjeevi Sandi Sahar Al-Mahdawi Mark A. Pook

Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by homozygous expansion of a GAA·TTC trinucleotide repeat within the first intron of the FXN gene, leading to reduced FXN transcription and decreased levels of frataxin protein. Recent advances in FRDA research have revealed the presence of several epigenetic modifications that are either directly or indirect...

Journal: :Human molecular genetics 2008
Stéphane Schmucker Manuela Argentini Nadège Carelle-Calmels Alain Martelli Hélène Puccio

Deficiency in the nuclear-encoded mitochondrial protein frataxin causes Friedreich ataxia (FRDA), a progressive neurodegenerative disorder associating spinocerebellar ataxia and cardiomyopathy. Although the exact function of frataxin is still a matter of debate, it is widely accepted that frataxin is a mitochondrial iron chaperone involved in iron-sulfur cluster and heme biosynthesis. Frataxin ...

2012
Barbara Tomassini Gaetano Arcuri Silvia Fortuni Chiranjeevi Sandi Vahid Ezzatizadeh Carlo Casali Ivano Condò Florence Malisan Sahar Al-Mahdawi Mark Pook Roberto Testi

Friedreich's ataxia (FRDA) is the most common hereditary ataxia, affecting ∼3 in 100 000 individuals in Caucasian populations. It is caused by intronic GAA repeat expansions that hinder the expression of the FXN gene, resulting in defective levels of the mitochondrial protein frataxin. Sensory neurons in dorsal root ganglia (DRG) are particularly damaged by frataxin deficiency. There is no spec...

Journal: :Human molecular genetics 2013
Michele M P Lufino Ana M Silva Andrea H Németh Javier Alegre-Abarrategui Angela J Russell Richard Wade-Martins

Friedreich's ataxia (FRDA) is caused by large GAA expansions in intron 1 of the frataxin gene (FXN), which lead to reduced FXN expression through a mechanism not fully understood. Understanding such mechanism is essential for the identification of novel therapies for FRDA and this can be accelerated by the development of cell models which recapitulate the genomic context of the FXN locus and al...

2013
Aurélien Bayot Pierre Rustin

"Frataxin fracas" were the words used when referring to the frataxin-encoding gene (FXN) burst in as a motive to disqualify an alternative candidate gene, PIP5K1B, as an actor in Friedreich's ataxia (FRDA) (Campuzano et al., 1996; Cossee et al., 1997; Carvajal et al., 1996). The instrumental role in the disease of large triplet expansions in the first intron of FXN has been thereafter fully con...

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