Associated Papers
Characterization of Novel POLG Mutations in Mitochondrial Encephalomyopathy: Pathogenic Validation and Comprehensive Genetic Profiling.
Zhou F et al.
Brain and Behavior, 2025
Expanded-Access Use of Elamipretide Improves Quality of Life in Patients With Rare Mitochondrial Disorders Characterized by Ophthalmic Symptoms: A Case Series.
Ansari S et al.
Clinical Case Reports, 2024
Clinical and Molecular Features of POLG-Related Sensory Ataxic Neuropathy with Dysarthria and Ophthalmoparesis.
Li LX et al.
Journal of Molecular Neuroscience : Mn, 2021
Clinico-pathological and Molecular Spectrum of Mitochondrial Polymerase γ Mutations in a Cohort from India.
Deepha S et al.
Journal of Molecular Neuroscience : Mn, 2021
Homozygous R627W mutations in POLG cause mitochondrial DNA depletion leading to encephalopathy, seizures and stroke-like episodes.
Paramasivam A et al.
Mitochondrion, 2019
Late-onset presentation of POLG1-associated mitochondrial disease.
Meira B et al.
Bmj Case Reports, 2019
POLG-related disorders and their neurological manifestations.
Rahman S et al.
Nature Reviews. Neurology, 2019
Valproate Is Contraindicated in POLG1 Mutations.
Finsterer J
Pediatric Gastroenterology, Hepatology & Nutrition, 2019
Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease.
Papandreou A et al.
Journal of Inherited Metabolic Disease, 2018
Alpers-Huttenlocher Syndrome First Presented with Hepatic Failure: Can Liver Transplantation Be Considered as Treatment Option?
Park S et al.
Pediatric Gastroenterology, Hepatology & Nutrition, 2017
The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy.
Vincent AE et al.
Scientific Reports, 2016
A brief review on human mtDNA mutations and NRTI-associated mtDNA toxicity and mutations.
Chattopadhyay K et al.
Mitochondrial Dna. Part A, Dna Mapping, Sequencing, and Analysis, 2016
Mitochondrial DNA Polymerase POLG1 Disease Mutations and Germline Variants Promote Tumorigenic Properties.
Singh B et al.
Plos One, 2015
Defects of mitochondrial DNA replication.
Copeland WC
Journal of Child Neurology, 2014
Mapping 136 pathogenic mutations into functional modules in human DNA polymerase γ establishes predictive genotype-phenotype correlations for the complete spectrum of POLG syndromes.
Farnum GA et al.
Biochimica Et Biophysica Acta, 2014
Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia [corrected].
Roos S et al.
Human Molecular Genetics, 2013
Clinical and molecular features of POLG-related mitochondrial disease.
Stumpf JD et al.
Cold Spring Harbor Perspectives in Biology, 2013
Early muscle and brain ultrastructural changes in polymerase gamma 1-related encephalomyopathy.
Nolte KW et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2013
Early-onset ataxia with progressive external ophthalmoplegia associated with POLG mutation: autosomal recessive mitochondrial ataxic syndrome or SANDO?
Habek M et al.
The Neurologist, 2012
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 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
Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation.
McHugh JC et al.
Muscle & Nerve, 2010
Two novel POLG mutations causing hepatic mitochondrial DNA depletion with recurrent hypoketotic hypoglycaemia and fatal liver dysfunction.
Bortot B et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2009
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
Mutations in the POLG1 gene are not a relevant cause of cerebellar ataxia in Italy.
Cagnoli C et al.
Journal of Neurology, 2008
Inherited mitochondrial diseases of DNA replication.
Copeland WC
Annual Review of Medicine, 2008
Liver mtDNA content increases during development: a comparison of methods and the importance of age- and tissue-specific controls for the diagnosis of mtDNA depletion.
Morten KJ et al.
Mitochondrion, 2007
SANDO: two novel mutations in POLG1 gene.
Gago MF et al.
Neuromuscular Disorders : Nmd, 2006
Molecular diagnosis of Alpers syndrome.
Nguyen KV et al.
Journal of Hepatology, 2006
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
Horvath R et al.
Brain : a Journal of Neurology, 2006
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
Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.
Luoma PT et al.
Human Molecular Genetics, 2005
Patient homozygous for a recessive POLG mutation presents with features of MERRF.
Van Goethem G et al.
Neurology, 2003
POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions.
Di Fonzo A et al.
Human Mutation, 2003
A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia.
Deschauer M et al.
Neuromuscular Disorders : Nmd, 2003
Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.
Van Goethem G et al.
Neuromuscular Disorders : Nmd, 2003
Defects in mitochondrial DNA replication and human disease.
Copeland WC
Critical Reviews in Biochemistry and Molecular Biology, 0