Associated Papers
Mitochondrial DNA Replication and Disease: A Historical Perspective on Molecular Insights and Therapeutic Advances.
Somai S et al.
International Journal of Molecular Sciences, 2025
Coordinated DNA polymerization by Polγ and the region of LonP1 regulated proteolysis.
Riccio AA et al.
Nucleic Acids Research, 2024
Structure-specific roles for PolG2-DNA complexes in maintenance and replication of mitochondrial DNA.
Wojtaszek JL et al.
Nucleic Acids Research, 2023
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.
McCreary D et al.
Jama Network Open, 2019
Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases.
Plutino M et al.
Bmc Medical Genetics, 2018
Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome.
Hoff KE et al.
Plos One, 2018
Mitochondrial DNA maintenance defects.
El-Hattab AW et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2017
Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease.
Bugiardini E et al.
Neurology. Genetics, 2017
Role of the mitochondrial DNA replication machinery in mitochondrial DNA mutagenesis, aging and age-related diseases.
DeBalsi KL et al.
Ageing Research Reviews, 2017
POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism.
Van Maldergem L et al.
Annals of Clinical and Translational Neurology, 2017
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
Human mitochondrial DNA replication machinery and disease.
Young MJ et al.
Current Opinion in Genetics & Development, 2016
Magnetic resonance imaging correlates of genetically characterized patients with mitochondrial disorders: A study from south India.
Bindu PS et al.
Mitochondrion, 2015
POLG2 disease variants: analyses reveal a dominant negative heterodimer, altered mitochondrial localization and impaired respiratory capacity.
Young MJ et al.
Human Molecular Genetics, 2015
Genes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA Instability.
Ahmed N et al.
International Journal of Molecular Sciences, 2015
Defects of mitochondrial DNA replication.
Copeland WC
Journal of Child Neurology, 2014
Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects.
Tang S et al.
Human Mutation, 2013
Targeted exome sequencing of suspected mitochondrial disorders.
Lieber DS et al.
Neurology, 2013
Polg2 is essential for mammalian embryogenesis and is required for mtDNA maintenance.
Humble MM et al.
Human Molecular Genetics, 2013
A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase γ subunits.
Craig K et al.
Mitochondrion, 2012
Biochemical analysis of human POLG2 variants associated with mitochondrial disease.
Young MJ et al.
Human Molecular Genetics, 2011
[ANT1, twinkle, POLG mutation].
Komaki H et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2002