Associated Papers
A mutation in DNA polymerase γ harbors a shortened lifespan and high sensitivity to mutagens in the filamentous fungus Neurospora crassa.
Yoshihara R et al.
Genetics, 2025
Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.
Subasri V et al.
Cancer Research Communications, 2023
Clinical Attributes and Electroencephalogram Analysis of Patients With Varying Alpers' Syndrome Genotypes.
Li H et al.
Frontiers in Pharmacology, 2021
POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings.
Specchio N et al.
Brain Sciences, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
POLG-related disorders and their neurological manifestations.
Rahman S et al.
Nature Reviews. Neurology, 2019
Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease.
Papandreou A et al.
Journal of Inherited Metabolic Disease, 2018
Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.
Uusimaa J et al.
Epilepsia, 2013
Partial status epilepticus - rapid genetic diagnosis of Alpers' disease.
McCoy B et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2011
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
Alpers syndrome with mutations in POLG: clinical and investigative features.
Hunter MF et al.
Pediatric Neurology, 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
DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations.
Chan SS et al.
Biochimica Et Biophysica Acta, 2009
Functional analysis of mutant mitochondrial DNA polymerase proteins involved in human disease.
Chan SS et al.
Methods in Molecular Biology (clifton, N.j.), 2009
Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations.
Ashley N et al.
Human Molecular Genetics, 2008
Inherited mitochondrial diseases of DNA replication.
Copeland WC
Annual Review of Medicine, 2008
Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders.
Hakonen AH et al.
European Journal of Human Genetics : Ejhg, 2007
Mitochondrial hepatopathies: advances in genetics and pathogenesis.
Lee WS et al.
Hepatology (baltimore, Md.), 2007
Novel mutation of human DNA polymerase gamma associated with mitochondrial toxicity induced by anti-HIV treatment.
Yamanaka H et al.
The Journal of Infectious Diseases, 2007
Molecular diagnosis of Alpers syndrome.
Nguyen KV et al.
Journal of Hepatology, 2006