نتایج جستجو برای: s ataxia frda

تعداد نتایج: 727598  

Journal: :genetics in the 3rd millennium 0
محمد مهدی حیدری mohammad mehdi heidari special medical center, tehran, iran مسعود هوشمند masoud houshmand special medical center, tehran, iran س حسین خانی s hosseinkhani special medical center, tehran, iran شهریار نفیسی shahriar nafissi special medical center, tehran, iran مهدی خاتمی mehri khatami special medical center, tehran, iran

friedreichs ataxia (frda) is an inherited recessive disorder characterized by progressive neurological disability and heart abnormalities. a deficiency in the protein frataxin causes this disease. frataxin deficiency leads to progressive iron accumulation in mitochondria, excessive free radical production and dysfunction of respiratory chain complexes. the expansion (gaa) repeat in the first in...

Journal: :IBJ plus 2022

Friedreich’s ataxia (FRDA) is predominantly a neurodegenerative disease caused by the deficiency of protein called frataxin (FXN). Although main pathological alterations are observed in neurons, it becoming clear that other non-neuronal cells such as astrocytes may be actively involved process associated with disease. Depending on stimuli they respond to, acquire different activation states ast...

2016
Imis Dogan Eugenie Tinnemann Sandro Romanzetti Shahram Mirzazade Ana S. Costa Cornelius J. Werner Stefan Heim Kathrin Fedosov Stefanie Schulz Dagmar Timmann Ilaria A. Giordano Thomas Klockgether Jörg B. Schulz Kathrin Reetz

OBJECTIVE Friedreich's ataxia (FRDA) is a spinocerebellar degenerative disorder, in which cognitive deficits are sparsely explored. In this behavioral and multimodal magnetic resonance imaging (MRI) study, we investigated the neurocognitive profile and cortico-cerebellar dysfunctions underlying executive functioning in individuals with FRDA. METHODS 22 FRDA patients and 22 controls were clini...

2014
Yanhao Lai Jill M. Beaver Karla Lorente Jonathan Melo Shyama Ramjagsingh Irina U. Agoulnik Zunzhen Zhang Yuan Liu

Expansion of GAA·TTC repeats within the first intron of the frataxin gene is the cause of Friedreich's ataxia (FRDA), an autosomal recessive neurodegenerative disorder. However, no effective treatment for the disease has been developed as yet. In this study, we explored a possibility of shortening expanded GAA repeats associated with FRDA through chemotherapeutically-induced DNA base lesions an...

Journal: :Nucleic acids research 2004
Laura M Pollard Rajesh Sharma Mariluz Gómez Sonali Shah Martin B Delatycki Luigi Pianese Antonella Monticelli Bronya J B Keats Sanjay I Bidichandani

Friedreich ataxia is caused by the expansion of a polymorphic and unstable GAA triplet repeat in the FRDA gene, but the mechanisms for its instability are poorly understood. Replication of (GAA*TTC)n sequences (9-105 triplets) in plasmids propagated in Escherichia coli displayed length- and orientation-dependent instability. There were small length variations upon replication in both orientatio...

2011
Novita Puspasari Simone M. Rowley Lavinia Gordon Paul J. Lockhart Panos A. Ioannou Martin B. Delatycki Joseph P. Sarsero

BACKGROUND Friedreich ataxia (FRDA) is the most common form of hereditary ataxia characterized by the presence of a GAA trinucleotide repeat expansion within the first intron of the FXN gene. The expansion inhibits FXN gene expression resulting in an insufficiency of frataxin protein. METHODOLOGY/PRINCIPAL FINDING In this study, computational analyses were performed on the 21.3 kb region upst...

2016
Kuchuan Chen Guang Lin Nele A Haelterman Tammy Szu-Yu Ho Tongchao Li Zhihong Li Lita Duraine Brett H Graham Manish Jaiswal Shinya Yamamoto Matthew N Rasband Hugo J Bellen

Mutations in Frataxin (FXN) cause Friedreich's ataxia (FRDA), a recessive neurodegenerative disorder. Previous studies have proposed that loss of FXN causes mitochondrial dysfunction, which triggers elevated reactive oxygen species (ROS) and leads to the demise of neurons. Here we describe a ROS independent mechanism that contributes to neurodegeneration in fly FXN mutants. We show that loss of...

2010
Tanel Punga Marc Bühler

Friedreich ataxia is a degenerative disease caused by deficiency of the protein frataxin (FXN). An intronic expansion of GAA triplets in the FXN-encoding gene, FXN, causes gene silencing and thus reduced FXN protein levels. Although it is widely assumed that GAA repeats block transcription via the assembly of an inaccessible chromatin structure marked by methylated H3K9, direct proof for this i...

Journal: :Human molecular genetics 1998
H Koutnikova V Campuzano M Koenig

Frataxin is a mitochondrial protein deficient in Friedreich ataxia (FRDA) and which is associated with abnormal intramitochondrial iron handling. We identified the mitochondrial processing peptidase beta (MPPbeta) as a frataxin protein partner using the yeast two-hybrid assay. In in vitro assays, MPPbeta binds frataxin which is cleaved by the reconstituted MPP heterodimer. MPP cleavage of frata...

2015
Tommaso Vannocci Nathalie Faggianelli Silvia Zaccagnino Ilaria della Rosa Salvatore Adinolfi Annalisa Pastore

Friedreich’s ataxia (FRDA) is a recessive autosomal ataxia caused by reduced levels of frataxin (FXN), an essential mitochondrial protein that is highly conserved from bacteria to primates. The exact role of frataxin and its primary function remain unclear although this information would be very valuable to design a therapeutic approach for FRDA. A main difficulty encountered so far has been th...

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