Novel biallelic mutations in POLG gene: large deletion and missense variant associated with PEO

Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia

(2020) Claudia Rodríguez-López et al.   JOURNAL OF MEDICAL GENETICS

Genotypes of chronic progressive external ophthalmoplegia in a large adult-onset cohort

(2019) Julia N. Heighton et al.   MITOCHONDRION

Infectious stress triggers a POLG-related mitochondrial disease

(2019) Paula Gaudó et al.   NEUROGENETICS

Oxidative damage diminishes mitochondrial DNA polymerase replication fidelity

(2019) Andrew P Anderson et al.   NUCLEIC ACIDS RESEARCH

SWISS-MODEL: homology modelling of protein structures and complexes

(2018) Andrew Waterhouse et al.   NUCLEIC ACIDS RESEARCH

The mitochondrial DNA polymerase gamma degrades linear DNA fragments precluding the formation of deletions

(2018) Nadee Nissanka et al.   Nature Communications

POLG-related disorders and their neurological manifestations

(2018) Shamima Rahman et al.   Nature Reviews Neurology

DNA polymerases in the mitochondria A critical review of the evidence

(2017) William C Copeland   Frontiers in Bioscience-Landmark

Phenotypic spectrum of POLG1 mutations

(2017) Josef Finsterer et al.   NEUROLOGICAL SCIENCES

Novel POLG mutations and variable clinical phenotypes in 13 Italian patients

(2017) Paola Da Pozzo et al.   NEUROLOGICAL SCIENCES

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

(2015) Gráinne S. Gorman et al.   ANNALS OF NEUROLOGY

The I-TASSER Suite: protein structure and function prediction

(2015) Jianyi Yang et al.   NATURE METHODS

The Phyre2 web portal for protein modeling, prediction and analysis

(2015) Lawrence A Kelley et al.   Nature Protocols

Sporadic PEO caused by a novel POLG variation and a Twinkle mutation: digenic inheritance?

(2015) Paola Da Pozzo et al.   NEUROLOGICAL SCIENCES

MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins

(2015) Sarah E. Calvo et al.   NUCLEIC ACIDS RESEARCH

Mutations causing mitochondrial disease: What is new and what challenges remain?

(2015) R. N. Lightowlers et al.   SCIENCE

HeterozygousPolgmutation causes motor dysfunction due to mtDNA deletions

(2014) Satoshi Fuke et al.   Annals of Clinical and Translational Neurology

Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort

(2013) Cécile Rouzier et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and autosomal dominant progressive external ophthalmoplegia

(2013) Sara Roos et al.   HUMAN MOLECULAR GENETICS

Twinkle mutations in two Chinese families with autosomal dominant progressive external ophthalmoplegia

(2013) Kunqian Ji et al.   NEUROLOGICAL SCIENCES

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

(2012) Vivienne C. M. Neeve et al.   BRAIN

Mitochondrial DNA polymerase   mutations: an ever expanding molecular and clinical spectrum

(2011) S. Tang et al.   JOURNAL OF MEDICAL GENETICS

POLG-related disorders: Defects of the nuclear and mitochondrial genome interaction

(2011) M. Milone et al.   NEUROLOGY

Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ

(2011) Liliya Euro et al.   NUCLEIC ACIDS RESEARCH

Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations

(2010) Jeffrey D. Stumpf et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Disease Mutations in the Human Mitochondrial DNA Polymerase Thumb Subdomain Impart Severe Defects in Mitochondrial DNA Replication

(2009) Rajesh Kasiviswanathan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

(2008) C Sue Richards et al.   GENETICS IN MEDICINE

Molecular and clinical genetics of mitochondrial diseases due toPOLGmutations

(2008) Lee-Jun C. Wong et al.   HUMAN MUTATION

Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations

(2008) Margherita Milone et al.   NEUROMUSCULAR DISORDERS