نتایج جستجو برای: friedreich

تعداد نتایج: 2912  

Journal: :Journal of Child Neurology 2012

Journal: :Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 2019

Journal: :Sri Lanka Journal of Child Health 2009

Journal: :Journal of Child Neurology 2012

Journal: :Journal of Multidisciplinary Healthcare 2021

Journal: :Human molecular genetics 2005
Pilar González-Cabo Rafael P Vázquez-Manrique M Adelaida García-Gimeno Pascual Sanz Francesc Palau

Frataxin deficiency is the main cause of Friedreich ataxia, an autosomal recessive neurodegenerative disorder. Frataxin function in mitochondria has not been fully explained yet. In this work, we show that Saccharomyces cerevisiae frataxin orthologue Yfh1p interacts physically with succinate dehydrogenase complex subunits Sdh1p and Sdh2p of the yeast mitochondrial electron transport chain and a...

2017
Monica Benini Silvia Fortuni Ivano Condò Giulia Alfedi Florence Malisan Nicola Toschi Dario Serio Damiano Sergio Massaro Gaetano Arcuri Roberto Testi Alessandra Rufini

Friedreich ataxia (FRDA) is a severe genetic neurodegenerative disease caused by reduced expression of the mitochondrial protein frataxin. To date, there is no therapy to treat this condition. The amount of residual frataxin critically affects the severity of the disease; thus, attempts to restore physiological frataxin levels are considered therapeutically relevant. Frataxin levels are control...

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