کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
10795991 1052649 2009 8 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
DNA polymerase gamma and mitochondrial disease: Understanding the consequence of POLG mutations
موضوعات مرتبط
علوم زیستی و بیوفناوری علوم کشاورزی و بیولوژیک دانش گیاه شناسی
پیش نمایش صفحه اول مقاله
DNA polymerase gamma and mitochondrial disease: Understanding the consequence of POLG mutations
چکیده انگلیسی
DNA polymerase γ is the only known DNA polymerase in human mitochondria and is essential for mitochondrial DNA replication and repair. It is well established that defects in mtDNA replication lead to mitochondrial dysfunction and disease. Over 160 coding variations in the gene encoding the catalytic subunit of DNA polymerase γ (POLG) have been identified. Our group and others have characterized a number of the more common and interesting mutations, as well as those disease mutations in the DNA polymerase γ accessory subunit. We review the results of these studies, which provide clues to the mechanisms leading to the disease state.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Biochimica et Biophysica Acta (BBA) - Bioenergetics - Volume 1787, Issue 5, May 2009, Pages 312-319
نویسندگان
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