| Q35886896 | A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease. |
| Q58606031 | A Screen Using iPSC-Derived Hepatocytes Reveals NAD as a Potential Treatment for mtDNA Depletion Syndrome |
| Q38248322 | A brief review on human mtDNA mutations and NRTI-associated mtDNA toxicity and mutations |
| Q47434262 | A complex genomic locus drives mtDNA replicase POLG expression to its disease-related nervous system regions |
| Q28593682 | A crucial role of mitochondrial Hsp40 in preventing dilated cardiomyopathy |
| Q48607253 | A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity |
| Q37301264 | A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions |
| Q53075411 | A history of mitochondrial diseases. |
| Q21090096 | A marked effect of electroconvulsive stimulation on behavioral aberration of mice with neuron-specific mitochondrial DNA defects |
| Q33756066 | A mechanistic view of human mitochondrial DNA polymerase gamma: providing insight into drug toxicity and mitochondrial disease |
| Q36734995 | A mitochondrial bioenergetic etiology of disease |
| Q50347029 | A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma. |
| Q58052165 | A new POLG1 mutation with peo and severe axonal and demyelinating sensory–motor neuropathy |
| Q34138193 | A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions |
| Q37306177 | A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes |
| Q37322367 | A novel POLG gene mutation in a patient with SANDO |
| Q36965757 | A novel Twinkle (PEO1) gene mutation in a Chinese family with adPEO |
| Q28202095 | A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia |
| Q38961648 | A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease. |
| Q37299538 | A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase γ subunits. |
| Q51034720 | A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies. |
| Q46848783 | A prevalent POLG CAG microsatellite length allele in humans and African great apes. |
| Q46964172 | A transgenic model to study the pathogenesis of somatic mtDNA mutation accumulation in beta-cells |
| Q52146944 | ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. |
| Q48361296 | Abnormal Ca2+ dynamics in transgenic mice with neuron-specific mitochondrial DNA defects. |
| Q47795959 | Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders |
| Q33299025 | Adaptive expression responses in the Pol-gamma null strain of S. pombe depleted of mitochondrial genome. |
| Q37067659 | Adenine nucleotide translocase, mitochondrial stress, and degenerative cell death. |
| Q36411022 | Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics. |
| Q26830373 | Alpers-Huttenlocher syndrome |
| Q26739630 | Alpers-Huttenlocher syndrome: the role of a multidisciplinary health care team |
| Q35206509 | Alteration of nucleotide metabolism: a new mechanism for mitochondrial disorders. |
| Q54798811 | Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion. |
| Q52535504 | Ancient human mitochondrial DNA and radiocarbon analysis of archived quids from the Mule Spring Rockshelter, Nevada, USA. |
| Q37220086 | Approaches to finding the molecular basis of mitochondrial oxidative phosphorylation disorders |
| Q54784561 | Association between trinucleotide CAG repeats of the DNA polymerase gene (POLG) with age of onset of Iranian Friedreich's ataxia patients. |
| Q44301583 | Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene. |
| Q31078351 | Autosomal recessive cerebellar ataxias |
| Q44041085 | Base composition at mtDNA boundaries suggests a DNA triple helix model for human mitochondrial DNA large-scale rearrangements. |
| Q36376641 | Bilateral convergent strabismus with exophthalmus (BCSE) in cattle: an overview of clinical signs and genetic traits |
| Q35501165 | Biochemical analysis of the G517V POLG variant reveals wild-type like activity |
| Q24677826 | Biochemical and cellular characteristics of the 3' -> 5' exonuclease TREX2 |
| Q31083169 | Blood cell mitochondrial DNA content and premature ovarian aging |
| Q34202934 | C-terminal extension of the yeast mitochondrial DNA polymerase determines the balance between synthesis and degradation |
| Q57733108 | CAG repeat variation in the mtDNA polymerase γ is not associated with oligoasthenozoospermia |
| Q46977902 | Caenorhabditis elegans par2.1/mtssb-1 is essential for mitochondrial DNA replication and its defect causes comprehensive transcriptional alterations including a hypoxia response |
| Q93006927 | Camptocormia as a Novel Phenotype in a Heterozygous POLG2 Mutation |
| Q36175351 | Canine MPV17 truncation without clinical manifestations |
| Q93007886 | Cause or casualty: The role of mitochondrial DNA in aging and age-associated disease |
| Q39298440 | Cerebral folate deficiency and CNS inflammatory markers in Alpers disease. |
| Q36492692 | Changing images of the gene |
| Q34778105 | Chronic progressive external ophthalmoplegia |
| Q55407764 | Clinical Reasoning: A 58-year-old man with progressive ptosis and walking difficulty. |
| Q36932851 | Clinical and molecular features of POLG-related mitochondrial disease. |
| Q28216954 | Clinical and molecular features of adPEO due to mutations in the Twinkle gene |
| Q33397750 | Clinical and molecular features of mitochondrial DNA depletion syndromes. |
| Q73438116 | Clinical progression of mitochondrial myopathy is associated with the random accumulation of cytochrome c oxidase negative skeletal muscle fibres |
| Q35620870 | Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ. |
| Q34967924 | Co-occurrence of four nucleotide changes associated with an adult mitochondrial ataxia phenotype. |
| Q42018225 | Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome |
| Q46697083 | Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy |
| Q37325936 | DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations. |
| Q26825324 | DNA polymerase γ and disease: what we have learned from yeast |
| Q35695170 | Decreased mtDNA, oxidative stress, cardiomyopathy, and death from transgenic cardiac targeted human mutant polymerase gamma. |
| Q89641306 | Deep sequencing of mitochondrial DNA and characterization of a novel POLG mutation in a patient with arPEO |
| Q34241192 | Defects in mitochondrial DNA replication and human disease |
| Q34098312 | Defects of mitochondrial DNA replication. |
| Q39681978 | Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR. |
| Q40470660 | Detection of mitochondrial DNA depletion in living human cells using PicoGreen staining. |
| Q54613942 | Development of a human mitochondria-focused cDNA microarray (hMitChip) and validation in skeletal muscle cells: implications for pharmaco- and mitogenomics. |
| Q38126245 | Diagnosis of mitochondrial myopathies |
| Q36860866 | Differential phenotypes of active site and human autosomal dominant progressive external ophthalmoplegia mutations in Drosophila mitochondrial DNA helicase expressed in Schneider cells |
| Q28188428 | Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle |
| Q37089644 | Dominant membrane uncoupling by mutant adenine nucleotide translocase in mitochondrial diseases |
| Q90255272 | Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy |
| Q36516391 | Drug-resistant epilepsia and fulminant valproate liver toxicity. Alpers-Huttenlocher syndrome in two children confirmed post mortem by identification of p.W748S mutation in POLG gene |
| Q48695066 | Dysfunctional mitochondrial maintenance: what breaks the circle of life? |
| Q33516950 | EFNS guidelines on the molecular diagnosis of mitochondrial disorders |
| Q47847503 | Early muscle and brain ultrastructural changes in polymerase gamma 1-related encephalomyopathy |
| Q33810387 | Encephalomyopathies caused by abnormal nuclear-mitochondrial intergenomic cross-talk |
| Q35632855 | Energetics, epigenetics, mitochondrial genetics |
| Q30248334 | Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review. |
| Q79260769 | Error Catastrophe in Mutant Mitochondria |
| Q61943963 | Evidence and age-related distribution of mtDNA D-loop point mutations in skeletal muscle from healthy subjects and mitochondrial patients |
| Q52580997 | Evolutionarily conserved mammalian adenine nucleotide translocase 4 is essential for spermatogenesis. |
| Q100395210 | Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin |
| Q36683281 | External ophthalmoplegia in human immunodeficiency virus-infected patients receiving antiretroviral therapy |
| Q34354181 | Five mutations of mitochondrial DNA polymerase-gamma (POLG) are not a prevalent etiology for spontaneous 46,XX primary ovarian insufficiency |
| Q33814578 | Functional analysis of H. sapiens DNA polymerase gamma spacer mutation W748S with and without common variant E1143G. |
| Q48933665 | Gene expression analysis in lymphoblastoid cells as a potential biomarker of bipolar disorder |
| Q26801194 | Genes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA Instability |
| Q43041001 | Genes on bovine chromosome 18 associated with bilateral convergent strabismus with exophthalmos in German Brown cattle. |
| Q50556566 | Genetic aetiology of ophthalmological manifestations in children - a focus on mitochondrial disease-related symptoms. |
| Q54614645 | Genetic analysis of two Japanese families with progressive external ophthalmoplegia and parkinsonism. |
| Q35132741 | Genetics and mitochondrial abnormalities in autism spectrum disorders: a review |
| Q51891859 | Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions. |
| Q34692062 | Heterozygous Polg mutation causes motor dysfunction due to mtDNA deletions |
| Q37433859 | High Pressure-Induced mtDNA Alterations in Retinal Ganglion Cells and Subsequent Apoptosis. |
| Q28661465 | Historical perspective on mitochondrial medicine |
| Q28204177 | Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria |
| Q26828886 | Human mitochondrial DNA replication |
| Q37322422 | Human mitochondrial DNA replication machinery and disease |
| Q37648855 | Human mitochondrial DNA: roles of inherited and somatic mutations |
| Q34315922 | Hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations |
| Q37022698 | Hypertrophic olivary degeneration: A clinico-radiologic study |
| Q34474098 | Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing |
| Q47404088 | In vivo analysis of mtDNA replication defects in yeast |
| Q40394628 | Inheritance of mitochondrial disorders |
| Q46667481 | Inherited Mendelian defects of nuclear-mitochondrial communication affecting the stability of mitochondrial DNA. |
| Q34195471 | Inherited mitochondrial DNA depletion |
| Q34692482 | Inherited mitochondrial diseases of DNA replication |
| Q38649815 | Inherited mitochondrial genomic instability and chemical exposures |
| Q52391007 | Inter-individual variation in adaptations to endurance and resistance exercise training: genetic approaches towards understanding a complex phenotype. |
| Q45939718 | Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2. |
| Q57059412 | Lethal neonatal mitochondrial phenotype caused by a novel polymerase subunit gamma mutation: A case report |
| Q34427479 | Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease |
| Q37679842 | Longitudinal clinical follow-up of a large family with the R357P Twinkle mutation. |
| Q24308200 | Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease |
| Q81383788 | Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations |
| Q28544021 | MMS exposure promotes increased MtDNA mutagenesis in the presence of replication-defective disease-associated DNA polymerase γ variants |
| Q35892524 | MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria |
| Q34268558 | MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle. |
| Q34565141 | Magnesium treatment for patients with refractory status epilepticus due to POLG1-mutations |
| Q28594641 | Manganese superoxide dismutase is a mitochondrial fidelity protein that protects Polγ against UV-induced inactivation |
| Q43130620 | Measurement of kinetic parameters of human platelet DNA polymerase gamma |
| Q37909459 | Mechanisms of mitochondrial diseases |
| Q51760035 | Mice lacking the mitochondrial exonuclease MGME1 accumulate mtDNA deletions without developing progeria. |
| Q48581868 | Mice with neuron-specific accumulation of mitochondrial DNA mutations show mood disorder-like phenotypes |
| Q24671804 | Mitochondria |
| Q29614825 | Mitochondria: in sickness and in health |
| Q45144296 | Mitochondrial DNA 3644T-->C mutation associated with bipolar disorder |
| Q35807951 | Mitochondrial DNA Polymerase POLG1 Disease Mutations and Germline Variants Promote Tumorigenic Properties |
| Q37060104 | Mitochondrial DNA abnormalities in ophthalmological disease |
| Q33364885 | Mitochondrial DNA and primary mitochondrial dysfunction in Parkinson's disease |
| Q42488964 | Mitochondrial DNA deletions inhibit proteasomal activity and stimulate an autophagic transcript |
| Q53145265 | Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients. |
| Q26865135 | Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options |
| Q40352892 | Mitochondrial DNA determines androgen dependence in prostate cancer cell lines. |
| Q38569294 | Mitochondrial DNA maintenance: an appraisal |
| Q55052993 | Mitochondrial DNA mutations in disease and aging. |
| Q24533971 | Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin |
| Q28511104 | Mitochondrial DNA polymerase gamma is essential for mammalian embryogenesis |
| Q34567471 | Mitochondrial DNA polymerase-gamma and human disease |
| Q38151645 | Mitochondrial DNA rearrangements in health and disease--a comprehensive study |
| Q34994585 | Mitochondrial DNA repair and aging |
| Q24612561 | Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations |
| Q35038617 | Mitochondrial DNA structure and function |
| Q34737643 | Mitochondrial DNA: impacting central and peripheral nervous systems |
| Q60949053 | Mitochondrial Metabolism in Major Neurological Diseases |
| Q38750535 | Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options |
| Q34543745 | Mitochondrial disease |
| Q26776417 | Mitochondrial disease in adults: what's old and what's new? |
| Q36707793 | Mitochondrial disease--its impact, etiology, and pathology. |
| Q36666800 | Mitochondrial disease: maintenance of mitochondrial genome and molecular diagnostics |
| Q78517318 | Mitochondrial diseases |
| Q95554206 | Mitochondrial diseases |
| Q36765849 | Mitochondrial diseases: a nosological update. |
| Q33810406 | Mitochondrial disorders of the nuclear genome |
| Q27000484 | Mitochondrial disorders: challenges in diagnosis & treatment |
| Q35188338 | Mitochondrial disorders: clinical presentation and diagnostic dilemmas |
| Q31088436 | Mitochondrial dysfunction as the molecular basis of bipolar disorder: therapeutic implications. |
| Q30985980 | Mitochondrial dysfunction in bipolar disorder: from 31P-magnetic resonance spectroscopic findings to their molecular mechanisms. |
| Q37808651 | Mitochondrial dysfunction in neurological disorders with epileptic phenotypes. |
| Q35085834 | Mitochondrial encephalomyopathies |
| Q82029875 | Mitochondrial encephalomyopathies |
| Q47072041 | Mitochondrial encephalomyopathy in Drosophila. |
| Q48279963 | Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations |
| Q30890554 | Mitochondrial encephalopathy |
| Q35632864 | Mitochondrial energetics and therapeutics |
| Q37618225 | Mitochondrial gene profiling: translational perspectives |
| Q33980742 | Mitochondrial genome deletions and minicircles are common in lice (Insecta: Phthiraptera) |
| Q33821051 | Mitochondrial genome maintenance in health and disease. |
| Q27023940 | Mitochondrial involvement in neurodegenerative diseases |
| Q33461789 | Mitochondrial mosaics in the liver of 3 infants with mtDNA defects |
| Q37134197 | Mitochondrial mutations: newly discovered players in neuronal degeneration. |
| Q42959191 | Mitochondrial myopathy induces a starvation-like response |
| Q34152110 | Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies |
| Q35550221 | Mitochondrial toxicity of nrti antiviral drugs: an integrated cellular perspective |
| Q34405895 | Modeling pathogenic mutations of human twinkle in Drosophila suggests an apoptosis role in response to mitochondrial defects |
| Q35038672 | Models of mitochondrial disease |
| Q37483304 | Modulation of mutagenesis in eukaryotes by DNA replication fork dynamics and quality of nucleotide pools |
| Q62472316 | Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay |
| Q33793596 | Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome |
| Q33936754 | Molecular and clinical genetics of mitochondrial diseases due to POLG mutations |
| Q34249675 | Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing |
| Q37206274 | Molecular diagnostics and mitochondrial dysfunction: a future perspective. |
| Q37785514 | Molecular genetics of mitochondrial disorders |
| Q42828340 | Molecular pathogenesis of polymerase γ-related neurodegeneration |
| Q37729415 | Mouse models of mtDNA replication diseases |
| Q40955181 | MtDNA-maintenance defects: syndromes and genes |
| Q37404541 | Multisystem manifestations of mitochondrial disorders |
| Q24546476 | Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia |
| Q34201844 | Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice |
| Q44306523 | Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. |
| Q37434648 | Mutations in mitochondrial DNA polymerase-gamma promote breast tumorigenesis |
| Q38334427 | Mutations in the spacer region of Drosophila mitochondrial DNA polymerase affect DNA binding, processivity, and the balance between Pol and Exo function |
| Q34147661 | Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. |
| Q35647359 | New approaches to the treatment of mitochondrial disorders |
| Q36411043 | Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions |
| Q90478374 | Nomenclature of Genetically Determined Myoclonus Syndromes: Recommendations of the International Parkinson and Movement Disorder Society Task Force |
| Q38808532 | Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force |
| Q62671284 | Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: A cautionary note |
| Q34208670 | Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy |
| Q34526802 | Novel POLG1 mutations in a patient with adult-onset progressive external ophthalmoplegia and encephalopathy |
| Q61943905 | Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia |
| Q34832047 | Novel polymerase gamma (POLG1) gene mutation in the linker domain associated with parkinsonism |
| Q35145869 | Nuclear genes in mitochondrial disorders. |
| Q36707806 | Nuclear transfer: preservation of a nuclear genome at the expense of its associated mtDNA genome(s). |
| Q37043105 | One complex world of mitochondrial parkinsonism |
| Q36860874 | Over-expression of the catalytic core of mitochondrial DNA (mtDNA) polymerase in the nervous system of Drosophila melanogaster reduces median life span by inducing mtDNA depletion |
| Q85613902 | POLG mutation presenting with late-onset jerky torticollis |
| Q93209103 | POLG-related disorders and their neurological manifestations |
| Q48731135 | POLG1 Arg953Cys mutation: expanded phenotype and recessive inheritance in a Brazilian family |
| Q34549981 | POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome |
| Q33570991 | POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype |
| Q35613347 | POS5 gene of Saccharomyces cerevisiae encodes a mitochondrial NADH kinase required for stability of mitochondrial DNA. |
| Q42944126 | PRICKLE2 Mutations Might Not Be Involved in Epilepsy |
| Q53612457 | Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. |
| Q30401750 | Pathogenicity in POLG syndromes: DNA polymerase gamma pathogenicity prediction server and database |
| Q37142690 | Pathological ribonuclease H1 causes R-loop depletion and aberrant DNA segregation in mitochondria |
| Q37785520 | Pharmacologic effects on mitochondrial function |
| Q30579069 | Phenotypic rescue of a Drosophila model of mitochondrial ANT1 disease. |
| Q37785515 | Polymerase gamma disease through the ages |
| Q36625859 | Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1. |
| Q35166737 | Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classification |
| Q50960708 | Progressive external ophthalmoplegia in southwestern Finland: a clinical and genetic study. |
| Q37132419 | Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features. |
| Q37636721 | Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort |
| Q34174847 | Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia |
| Q35006696 | Recurrent major depression, ataxia, and cardiomyopathy: association with a novel POLG mutation? |
| Q48114635 | Reduced intracellular pH in the basal ganglia and whole brain measured by 31P-MRS in bipolar disorder |
| Q37138915 | Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure. |
| Q36744454 | Regulation of mitochondrial DNA content and cancer |
| Q36713929 | Relapsing neuropathy in an 18-year-old woman |
| Q34085612 | Replication pauses of the wild-type and mutant mitochondrial DNA polymerase gamma: a simulation study |
| Q27022050 | Replication proteins and human disease |
| Q57390264 | Risk of developing a mitochondrial DNA deletion disorder |
| Q38824997 | Role of the mitochondrial DNA replication machinery in mitochondrial DNA mutagenesis, aging and age-related diseases |
| Q36687824 | Roles of DNA polymerases in replication, repair, and recombination in eukaryotes. |
| Q42022492 | Roles of Mitochondrial DNA Changes on Cancer Initiation and Progression |
| Q90104556 | Roles of the mitochondrial replisome in mitochondrial DNA deletion formation |
| Q37914096 | Running on empty: does mitochondrial DNA mutation limit replicative lifespan in yeast?: Mutations that increase the division rate of cells lacking mitochondrial DNA also extend replicative lifespan in Saccharomyces cerevisiae |
| Q34811598 | SLC25A4 and C10ORF2 Mutations in Autosomal Dominant Progressive External Ophthalmoplegia |
| Q73526157 | Search for protein partners of mitochondrial single-stranded DNA-binding protein Rim1p using a yeast two-hybrid system |
| Q35053411 | Searching for nuclear-mitochondrial genes |
| Q35706479 | Sensory neuronopathy in patients harbouring recessive polymerase γ mutations |
| Q42437829 | Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations |
| Q38556923 | Short-range inversions: rethinking organelle genome stability: template switching events during DNA replication destabilize organelle genomes |
| Q28539015 | Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions |
| Q48550377 | Status epilepticus caused by an unusual encephalopathy |
| Q38083635 | Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene |
| Q93367206 | Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase |
| Q38354757 | Structural determinants in human DNA polymerase gamma account for mitochondrial toxicity from nucleoside analogs. |
| Q24336678 | Structural insight into processive human mitochondrial DNA synthesis and disease-related polymerase mutations |
| Q28272479 | Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia |
| Q49121755 | Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA. |
| Q35022544 | Substoichiometric shifting in the plant mitochondrial genome is influenced by a gene homologous to MutS |
| Q28259640 | Syndromic parkinsonism and dementia associated with OPA1 missense mutations |
| Q60927177 | Systematics for types and effects of DNA variations |
| Q35565985 | Techniques and Pitfalls in the Detection of Pathogenic Mitochondrial DNA Mutations |
| Q36253589 | The DNA polymerase gamma Y955C disease variant associated with PEO and parkinsonism mediates the incorporation and translesion synthesis opposite 7,8-dihydro-8-oxo-2'-deoxyguanosine |
| Q43236618 | The POLG Gene Polymorphism in Iranian Varicocele-Associated Infertility Patients. |
| Q34643125 | The Podospora rmp1 gene implicated in nucleus-mitochondria cross-talk encodes an essential protein whose subcellular location is developmentally regulated |
| Q34048626 | The accessory subunit of DNA polymerase gamma is essential for mitochondrial DNA maintenance and development in Drosophila melanogaster |
| Q37766019 | The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders |
| Q38804994 | The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations. |
| Q33871683 | The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO. |
| Q40396587 | The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit. |
| Q27931436 | The conserved translocase Tim17 prevents mitochondrial DNA loss |
| Q36878648 | The exonuclease activity of the yeast mitochondrial DNA polymerase γ suppresses mitochondrial DNA deletions between short direct repeats in Saccharomyces cerevisiae |
| Q35876992 | The genetics of strabismus |
| Q36089398 | The impact of mitochondrial genetics on male infertility. |
| Q35907097 | The interface of transcription and DNA replication in the mitochondria |
| Q55513484 | The mitochondrial DNA polymerase gamma degrades linear DNA fragments precluding the formation of deletions. |
| Q37651211 | The mitochondrial DNA polymerase in health and disease. |
| Q51661835 | The mitochondrial theory of aging: dead or alive? |
| Q34338783 | The neuro-ophthalmology of mitochondrial disease |
| Q35172406 | The neurology of mitochondrial DNA disease. |
| Q43887789 | The nuclear genome is involved in heteroplasmy control in a mitochondrial mutant strain of Drosophila subobscura |
| Q34562809 | The organization and inheritance of the mitochondrial genome |
| Q37287583 | The pathophysiology of mitochondrial disease as modeled in the mouse |
| Q82908973 | The polymorphic polyglutamine repeat in the mitochondrial DNA polymerase gamma gene is not associated with oligozoospermia |
| Q35647363 | The potential risks of abnormal transmission of mtDNA through assisted reproductive technologies. |
| Q37517401 | The relationship between pluripotency and mitochondrial DNA proliferation during early embryo development and embryonic stem cell differentiation |
| Q42036700 | The relationship between the rate of molecular evolution and the rate of genome rearrangement in animal mitochondrial genomes |
| Q33926626 | The role of mitochondrial DNA copy number in mammalian fertility. |
| Q33275295 | The role of mitochondrial DNA mutations in mammalian aging |
| Q37785512 | The role of mitochondrial dysfunction in psychiatric disease |
| Q48113427 | The spectrum of epilepsy caused by POLG mutations |
| Q34484088 | The transmission of mitochondrial DNA following assisted reproductive techniques |
| Q57086168 | The use of lymphocytes to screen for oxidative phosphorylation disorders |
| Q34626065 | Thymidine kinase 2 deficiency-induced mtDNA depletion in mouse liver leads to defect β-oxidation |
| Q54558040 | Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. |
| Q24200432 | Treatment for mitochondrial disorders |
| Q24244543 | Treatment for mitochondrial disorders |
| Q24247852 | Treatment for mitochondrial myopathy |
| Q24563813 | Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA |
| Q28290165 | Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number |
| Q24310134 | Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling |
| Q33903980 | Two copies of mthmg1, encoding a novel mitochondrial HMG-like protein, delay accumulation of mitochondrial DNA deletions in Podospora anserina |
| Q35482241 | Two families with autosomal dominant progressive external ophthalmoplegia |
| Q92420208 | Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level |
| Q36477684 | Universal heteroplasmy of human mitochondrial DNA. |
| Q30401478 | Variation in DNA Base Excision Repair Genes in Fuchs Endothelial Corneal Dystrophy |
| Q36474714 | What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr? |
| Q64268178 | Whole-exome sequencing as a powerful tool for identifying genetic causes in a patient with POLG-related disorders and phenylketonuria |
| Q92342635 | Wide field retinal imaging and the detection of drug associated retinal toxicity |
| Q37608523 | Yeast cells expressing the human mitochondrial DNA polymerase reveal correlations between polymerase fidelity and human disease progression |
| Q34517765 | Yeast mitochondrial biogenesis: a model system for humans? |
| Q36337679 | Zebrafish lacking functional DNA polymerase gamma survive to juvenile stage, despite rapid and sustained mitochondrial DNA depletion, altered energetics and growth |
| Q39540866 | adPEO mutations in ANT1 impair ADP-ATP translocation in muscle mitochondria |
| Q35059486 | mtDNA Mutations and Their Role in Aging, Diseases and Forensic Sciences |
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