Genetic disorders of mitochondrial ATP synthase
نویسندگان
چکیده
منابع مشابه
ATP Synthase Diseases of Mitochondrial Genetic Origin
1 Institut de Biochimie et Génétique Cellulaires, Centre National de la Recherche Scientifique UMR 5095, Université de Bordeaux, Bordeaux, France, 2 Department of Life Sciences, Imperial College London, London, United Kingdom, 3 Department of Structural Biology, Max-Planck-Institute of Biophysics, Frankfurt, Germany, 4 Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Warsaw...
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Disorders of ATP synthase, the key enzyme of mitochondrial energy provision belong to the most severe metabolic diseases presenting as early-onset mitochondrial encephalo-cardiomyopathies. Up to now, mutations in four nuclear genes were associated with isolated deficiency of ATP synthase. Two of them, ATP5A1 and ATP5E encode enzyme's structural subunits alpha and epsilon, respectively, while th...
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ژورنال
عنوان ژورنال: Biochimica et Biophysica Acta (BBA) - Bioenergetics
سال: 2010
ISSN: 0005-2728
DOI: 10.1016/j.bbabio.2010.04.158