Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993
نویسندگان
چکیده
منابع مشابه
Expanding the clinical phenotypes of MT-ATP6 mutations.
Mitochondrial DNA mutations at MT-ATP6 gene are relatively common in individuals suffering from striatal necrosis syndromes. These patients usually do not show apparent histochemical and/or biochemical signs of oxidative phosphorylation dysfunction. Because of this, MT-ATP6 is not typically analyzed in many other mitochondrial disorders that have not been previously associated to mutations in t...
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Objective(s): As mitochondrial oxidative stress is probably entailed in ATP production, a candidate modifier factor for the long QT syndrome (LQTS) could be mitochondrial DNA (mtDNA). It has been notified that ion channels' activities in cardiomyocytes are sensitive to the ATP level. Materials and Methods: The sample of the research was an Iranian family with LQTS for mutations by PCR-SSCP and...
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The role of the mitochondria in the process of carcinogenesis, mainly oxidative phosphorylation, mostly concerns their participation in the production of free radicals and ATP and in the process of apoptosis. The purpose of this study was to detect potential changes in the genes encoding the subunits 6 and 8 of the ATP synthase and their impact on the enzyme's biochemical properties, structure ...
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Department of Applied Biomedical Science, Faculty of Health Sciences, University of Malta; Laboratory of Molecular Genetics, Department of Physiology & Biochemistry, University of Malta, Malta; University of Patras, Department of Pharmacy, University Campus, Patras, Greece; Thalassaemia Clinic, Section of Pathology, Mater Dei Hospital, Msida, Malta; Erasmus MC, Department of Cell Biology; Nethe...
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ژورنال
عنوان ژورنال: Biochimica et Biophysica Acta (BBA) - Bioenergetics
سال: 2007
ISSN: 0005-2728
DOI: 10.1016/j.bbabio.2007.05.005