Associated Papers
The Saccharomyces cerevisiae mitochondrial DNA polymerase and its contribution to the knowledge about human POLG-related disorders.
Gilea AI et al.
Iubmb Life, 2023
POLG-related disorders and their neurological manifestations.
Rahman S et al.
Nature Reviews. Neurology, 2019
Pathogenicity in POLG syndromes: DNA polymerase gamma pathogenicity prediction server and database.
Nurminen A et al.
Bba Clinical, 2017
DNA polymerase γ and disease: what we have learned from yeast.
Lodi T et al.
Frontiers in Genetics, 2015
25852747 (PubMed )
Supplement: Table1.DOCX
MMS exposure promotes increased MtDNA mutagenesis in the presence of replication-defective disease-associated DNA polymerase γ variants.
Stumpf JD et al.
Plos Genetics, 2014
Defects of mitochondrial DNA replication.
Copeland WC
Journal of Child Neurology, 2014
Clinical and molecular features of POLG-related mitochondrial disease.
Stumpf JD et al.
Cold Spring Harbor Perspectives in Biology, 2013
Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ.
Euro L et al.
Nucleic Acids Research, 2011
Mitochondrial disorders of DNA polymerase γ dysfunction: from anatomic to molecular pathology diagnosis.
Zhang L et al.
Archives of Pathology & Laboratory Medicine, 2011
Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.
Baruffini E et al.
Mitochondrion, 2011
Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations.
Stumpf JD et al.
Cellular and Molecular Life Sciences : Cmls, 2011
Polymerase gamma 1 mutations: clinical correlations.
Milone M et al.
The Neurologist, 2010
Clinical and molecular features of mitochondrial DNA depletion syndromes.
Spinazzola A et al.
Journal of Inherited Metabolic Disease, 2009
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