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POLGPolymerase Gamma
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References in periodicals archive ?
Notably, in the mutator mouse model, characterized by the accumulation of multiple deletions in the mtDNA due to a proofreading-deficient form of POLG (the polymerase responsible for mtDNA replication), neuroprotective compensatory mechanisms at the mitochondrial level were observed [66].
We also analyzed four minor patients (0.5-4.0 years) with MDS carrying two mutations in one of four nuclear genes that cause mtDNA depletion ( POLG , DGUOK , TK2 , and SUCLA2 ).
Grzybowski, "Searching for association of the CAG repeat polymorphism in the mitochondrial DNA polymerase gamma gene (POLG) with colorectal cancer," Acta Biochimica Polonica, vol.
DNA polymerase gamma and mitochondrial disease: Understanding the consequence of POLG mutations.
Polymerase gamma gene POLG determines the risk of sodium valproate-induced liver toxicity.
They were not told about Alpers syndrome and its relationship to the POLG gene until after their third child was born.
Citation: "Somatic progenitor cell vulnerability to mitochondrial DNA mutagenesis underlies progeroid phenotypes in Polg mutator mice;" Kati Ahlqvist, Anu Suomalainen et al.; Celt Metabolism, Volume 15, Issue 1,4 January 2012, Pages 100-109
Today, Polyus Gold International's GDRs will start trading on the LSE under the ticker POLG LI.
Patients with autosomal recessive mutations in MPV17 predominantly present with hepatic failure during infancy (5), whereas individuals with POLG mutations can present with MDDS at any age, primarily with encephalopathy and, to a lesser extent, hepatic impairment (6).
According to Copeland's research, more than 85% of spontaneous mitochondrial DNA mutations can be traced back to errors in the POLG gene that encodes pol [gamma].
mtDNA replication and transcription occur in the core region through the activity of mitochondrial transcription factor A (TFAM), mitochondrial RNA polymerase (POLRMT), mitochondrial single-stranded DNA-binding protein (mtSSB), mitochondrial polymerase [gamma] (POLG), and Twinkle helicase, with subsequent RNA processing and translation occurring in the outer region (peripheral region) [22,61,67].