نتایج جستجو برای: ژن frda

تعداد نتایج: 16054  

Journal: :Neurocomputing 2021

In this paper, a modified collaborative filtering (MCF) algorithm with improved performance is developed for recommendation systems application in predicting baseline data of Friedreich’s Ataxia (FRDA) patients. The proposed MCF combines the individual merits both user-based (UBCF) method and item-based (IBCF) method, where positively negatively correlated neighbors are taken into account. weig...

Journal: :International journal of physiotherapy and research 2023

Background: Friedreich’s ataxia (FRDA) is a progressive, neurodegenerative autosomal recessive disorder affecting multiple systems of the body. Physical therapy has been found to be beneficial for improving function and quality life in individuals with FRDA. However, there little evidence supporting specific interventions that would address functional concerns these patients, most optimal rehab...

Journal: :The Journal of biological chemistry 1991
I Schröder R P Gunsalus B A Ackrell B Cochran G Cecchini

Menaquinol-fumarate oxidoreductase of Escherichia coli is a four-subunit membrane-bound complex that catalyzes the final step in anaerobic respiration when fumarate is the terminal electron acceptor. The enzyme is structurally and catalytically similar to succinate dehydrogenase (succinate-ubiquinone oxidoreductase) from both procaryotes and eucaryotes. Both enzymes have been proposed to contai...

Journal: :acta medica iranica 0
amene saghazadeh research center for immunodeficiencies, children's medical center, tehran university of medical sciences, tehran, iran. and neuroimmunology research association (nira), universal scientific education and research network (usern), tehran, iran. sina hafizi pediatrics center of excellence, children's medical center, tehran university of medical sciences, tehran, iran. firouzeh hosseini pediatrics center of excellence, children's medical center, tehran university of medical sciences, tehran, iran. mahmoud reza ashrafi pediatrics center of excellence, children's medical center, tehran university of medical sciences, tehran, iran. nima rezaei research center for immunodeficiencies, children's medical center, tehran university of medical sciences, tehran, iran. and department of immunology, school of medicine, tehran university of medical sciences, tehran, iran. and network of immunity in infection, malignancy and autoimmunity (niima), universal scientific education and research network (usern), tehran, iran.

friedreich’s ataxia (frda) is a rare autosomal recessive spinocerebellar ataxia which in the majority of cases is associated with a gaa-trinucleotide repeat expansion in the first intron of frataxin gene located on chromosome 9. the clinical features include progressive gait and limb ataxia, cerebellar dysarthria, neuropathy, optic atrophy, and loss of vibration and proprioception. ataxia with ...

2015
Elisabetta Soragni C. James Chou James R. Rusche Joel M. Gottesfeld

The genetic defect in Friedreich's ataxia (FRDA) is the hyperexpansion of a GAA•TTC triplet in the first intron of the FXN gene, encoding the essential mitochondrial protein frataxin. Histone post-translational modifications near the expanded repeats are consistent with heterochromatin formation and consequent FXN gene silencing. Using a newly developed human neuronal cell model, derived from p...

Journal: :Journal of bacteriology 2005
Ee-Been Goh Peggy J Bledsoe Li-Ling Chen Prasad Gyaneshwar Valley Stewart Michele M Igo

Hierarchical control ensures that facultative bacteria preferentially use the available respiratory electron acceptor with the most positive standard redox potential. Thus, nitrate is used before other electron acceptors such as fumarate for anaerobic respiration. Nitrate regulation is mediated by the NarX-NarL two-component system, which activates the transcription of operons encoding nitrate ...

Journal: :Journal of the neurological sciences 2005
Vittorio Calabrese Raffaele Lodi Caterina Tonon Velia D'Agata Maria Sapienza Giovanni Scapagnini Andrea Mangiameli Giovanni Pennisi A M Giuffrida Stella D Allan Butterfield

There is significant evidence that the pathogenesis of several neurodegenerative diseases, including Parkinson's disease, Alzheimer's disease, Friedreich's ataxia (FRDA), multiple sclerosis and amyotrophic lateral sclerosis, may involve the generation of reactive oxygen species (ROS) and/or reactive nitrogen species (RNS) associated with mitochondrial dysfunction. The mitochondrial genome may p...

Journal: :Cytogenetic and Genome Research 2002

Journal: :Brain : a journal of neurology 2009
Filippo Fortuna Piero Barboni Rocco Liguori Maria Lucia Valentino Giacomo Savini Cinzia Gellera Caterina Mariotti Giovanni Rizzo Caterina Tonon David Manners Raffaele Lodi Alfredo A Sadun Valerio Carelli

Optic neuropathy is common in mitochondrial disorders, but poorly characterized in Friedreich's ataxia (FRDA), a recessive condition caused by lack of the mitochondrial protein frataxin. We investigated 26 molecularly confirmed FRDA patients by studying both anterior and posterior sections of the visual pathway using a new, integrated approach. This included visual field testing and optical coh...

Journal: :Human molecular genetics 2007
Yuxi Shan Eleonora Napoli Gino Cortopassi

The neurodegenerative disorder Friedreich's ataxia (FRDA) is caused by mutations in frataxin, a mitochondrial protein whose function remains controversial. Using co-immunoprecipitation and mass spectrometry we identified multiple interactors of mitochondrial frataxin in mammalian cells. One interactor was mortalin/GRP75, a homolog of the yeast ssq1 chaperone that integrates iron-sulfur clusters...

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