Associated Papers
A novel mouse model of mitochondrial disease exhibits juvenile-onset severe neurological impairment due to parvalbumin cell mitochondrial dysfunction.
Olkhova EA et al.
Communications Biology, 2023
Heterozygous p.Y955C mutation in DNA polymerase γ leads to alterations in bioenergetics, complex I subunit expression, and mtDNA replication.
Rahman MM et al.
The Journal of Biological Chemistry, 2022
Nuclear Genes Associated with Mitochondrial DNA Processes as Contributors to Parkinson's Disease Risk.
Müller-Nedebock AC et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging.
Lujan SA et al.
Genome Biology, 2020
Investigation of mitochondrial biogenesis defects in single substantia nigra neurons using post-mortem human tissues.
Chen C et al.
Neurobiology of Disease, 2020
POLG R964C and GBA L444P mutations in familial Parkinson's disease: Case report and literature review.
Hsieh PC et al.
Brain and Behavior, 2019
POLG-related disorders and their neurological manifestations.
Rahman S et al.
Nature Reviews. Neurology, 2019
Investigating complex I deficiency in Purkinje cells and synapses in patients with mitochondrial disease.
Chrysostomou A et al.
Neuropathology and Applied Neurobiology, 2016
Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease.
Martikainen MH et al.
Jama Neurology, 2016
Causes of Death in Adults with Mitochondrial Disease.
Barends M et al.
Jimd Reports, 2016
DNA polymerase γ and disease: what we have learned from yeast.
Lodi T et al.
Frontiers in Genetics, 2015
Peripheral neuropathy and parkinsonism: a large clinical and pathogenic spectrum.
Vital A et al.
Journal of the Peripheral Nervous System : Jpns, 2014
POLG1-related levodopa-responsive parkinsonism.
Miguel R et al.
Clinical Neurology and Neurosurgery, 2014
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
Dissecting the mechanisms underlying the accumulation of mitochondrial DNA deletions in human skeletal muscle.
Campbell G et al.
Human Molecular Genetics, 2014
Defects of mitochondrial DNA replication.
Copeland WC
Journal of Child Neurology, 2014
The impact of pathogenic mitochondrial DNA mutations on substantia nigra neurons.
Reeve A et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2013
What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?
Neeve VC et al.
Brain : a Journal of Neurology, 2012
Microangiopathy in the cerebellum of patients with mitochondrial DNA disease.
Lax NZ et al.
Brain : a Journal of Neurology, 2012
Cerebellar ataxia in patients with mitochondrial DNA disease: a molecular clinicopathological study.
Lax NZ et al.
Journal of Neuropathology and Experimental Neurology, 2012
Mitochondrial disorders of DNA polymerase γ dysfunction: from anatomic to molecular pathology diagnosis.
Zhang L et al.
Archives of Pathology & Laboratory Medicine, 2011
Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations.
Stumpf JD et al.
Cellular and Molecular Life Sciences : Cmls, 2011
mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae.
Stumpf JD et al.
Human Molecular Genetics, 2010
Developmental and pathological changes in the human cardiac muscle mitochondrial DNA organization, replication and copy number.
Pohjoismäki JL et al.
Plos One, 2010
The mitochondrial DNA polymerase in health and disease.
Copeland WC
Sub-cellular Biochemistry, 2010
DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations.
Chan SS et al.
Biochimica Et Biophysica Acta, 2009
Alpha-synuclein pathology and Parkinsonism associated with POLG1 mutations and multiple mitochondrial DNA deletions.
Betts-Henderson J et al.
Neuropathology and Applied Neurobiology, 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
Inherited mitochondrial diseases of DNA replication.
Copeland WC
Annual Review of Medicine, 2008
Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome.
Chan SS et al.
Dna Repair, 2005
The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit.
Chan SS et al.
The Journal of Biological Chemistry, 2005
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).
Agostino A et al.
Neurology, 2003
Defects in mitochondrial DNA replication and human disease.
Copeland WC
Critical Reviews in Biochemistry and Molecular Biology, 0