| P50 | author | Vilhelm A. Bohr | Q89667423 |
| P2093 | author name string | Deborah L Croteau | |
| | Morten Scheibye-Knudsen | |
| P2860 | cites work | Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations. | Q52007435 |
| | Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children. | Q52217978 |
| | Pre-excitation syndrome and Leber's hereditary optic neuroretinopathy | Q69859342 |
| | Dental treatment of a patient with Friedreich's ataxia | Q70031117 |
| | Mitochondrial encephalomyopathies presenting with features of autonomic and visceral dysfunction | Q71337013 |
| | The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study | Q71843071 |
| | Failure of RNA synthesis to recover after UV irradiation: an early defect in cells from individuals with Cockayne's syndrome and xeroderma pigmentosum | Q72658941 |
| | Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II | Q81539367 |
| | A comprehensive description of the severity groups in Cockayne syndrome | Q83824079 |
| | Premature ageing in mice expressing defective mitochondrial DNA polymerase | Q24294365 |
| | Cockayne syndrome A and B proteins differentially regulate recruitment of chromatin remodeling and repair factors to stalled RNA polymerase II in vivo | Q24300037 |
| | Cooperation of the Cockayne syndrome group B protein and poly(ADP-ribose) polymerase 1 in the response to oxidative stress. | Q24316039 |
| | Cockayne syndrome group B protein enhances elongation by RNA polymerase II | Q24317053 |
| | Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome | Q24337244 |
| | Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion | Q24530876 |
| | Multi-system neurological disease is common in patients with OPA1 mutations | Q24619312 |
| | Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients | Q24628908 |
| | Mitochondrial dysfunction in ataxia-telangiectasia | Q24630465 |
| | mTOR signaling in growth control and disease | Q24634174 |
| | Cockayne syndrome group B protein stimulates repair of formamidopyrimidines by NEIL1 DNA glycosylase | Q24645685 |
| | Rapamycin fed late in life extends lifespan in genetically heterogeneous mice | Q24647805 |
| | Navajo neurohepatopathy is caused by a mutation in the MPV17 gene | Q24678502 |
| | Increased apoptosis, p53 up-regulation, and cerebellar neuronal degeneration in repair-deficient Cockayne syndrome mice | Q24682525 |
| | Inactivation of Saccharomyces cerevisiae OGG1 DNA repair gene leads to an increased frequency of mitochondrial mutants. | Q27931938 |
| | Activation of p53 or loss of the Cockayne syndrome group B repair protein causes metaphase fragility of human U1, U2, and 5S genes | Q28140055 |
| | Decrease of pyruvate dehydrogenase phosphatase activity in patients with congenital lactic acidemia | Q28212053 |
| | A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA | Q28220775 |
| | Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle | Q28235835 |
| | Fighting neurodegeneration with rapamycin: mechanistic insights | Q28243647 |
| | Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation | Q28247088 |
| | Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin | Q28259592 |
| | Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases | Q28269333 |
| | Clinical and genetic abnormalities in patients with Friedreich's ataxia | Q28290611 |
| | Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion | Q28301052 |
| | Cockayne syndrome B protein stimulates apurinic endonuclease 1 activity and protects against agents that introduce base excision repair intermediates | Q28306117 |
| | Activation of RNA polymerase I transcription by cockayne syndrome group B protein and histone methyltransferase G9a | Q28504923 |
| | CSB is a component of RNA pol I transcription | Q28610049 |
| | Mitochondria, oxidants, and aging | Q29547594 |
| | NIX is required for programmed mitochondrial clearance during reticulocyte maturation | Q29614484 |
| | Extension of murine life span by overexpression of catalase targeted to mitochondria | Q29614546 |
| | Mitochondrial dysfunction and type 2 diabetes | Q29617913 |
| | The neurological evolution of Pearson syndrome: case report and literature review | Q31109400 |
| | Initiation of DNA repair mediated by a stalled RNA polymerase IIO. | Q33231453 |
| | Proteins of nucleotide and base excision repair pathways interact in mitochondria to protect from loss of subcutaneous fat, a hallmark of aging | Q33656093 |
| | Heterogeneous patterns of tissue injury in NARP syndrome | Q33720822 |
| | The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO. | Q33871683 |
| | Mitochondrial DNA repair and association with aging--an update | Q33889143 |
| | Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations | Q33905515 |
| | Cockayne syndrome group B protein promotes mitochondrial DNA stability by supporting the DNA repair association with the mitochondrial membrane | Q33919468 |
| | Nix is critical to two distinct phases of mitophagy, reactive oxygen species-mediated autophagy induction and Parkin-ubiquitin-p62-mediated mitochondrial priming | Q34107322 |
| | DNA repair deficiency in neurodegeneration. | Q34183328 |
| | Cockayne syndrome: Review of 140 cases | Q34232807 |
| | DNA damage links mitochondrial dysfunction to atherosclerosis and the metabolic syndrome | Q34316747 |
| | Leber hereditary optic neuropathy: clinical and molecular genetic findings | Q34347157 |
| | The metabolic syndrome resulting from a knockout of the NEIL1 DNA glycosylase | Q34478554 |
| | Mitochondrial disease | Q34543745 |
| | A new mitochondrial disease associated with mitochondrial DNA heteroplasmy | Q34627393 |
| | COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement | Q34687106 |
| | Mitochondrial disease: a practical approach for primary care physicians. | Q34721044 |
| | Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome | Q34838465 |
| | Nutrient-sensitized screening for drugs that shift energy metabolism from mitochondrial respiration to glycolysis | Q35101307 |
| | Cockayne syndrome group B protein prevents the accumulation of damaged mitochondria by promoting mitochondrial autophagy. | Q35894155 |
| | Mitochondrial evolution. | Q36192920 |
| | Human Cockayne syndrome B protein reciprocally communicates with mitochondrial proteins and promotes transcriptional elongation | Q36280608 |
| | Infantile and pediatric quinone deficiency diseases | Q36795115 |
| | The role of Cockayne Syndrome group B (CSB) protein in base excision repair and aging. | Q36882150 |
| | A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes | Q37306177 |
| | Nucleic acid binding activity of human Cockayne syndrome B protein and identification of Ca(2+) as a novel metal cofactor | Q37308518 |
| | The absence of a pyrimidine dimer repair mechanism in mammalian mitochondria | Q37452565 |
| | Human mitochondrial RNA polymerase: structure-function, mechanism and inhibition | Q38007052 |
| | TFIIH: when transcription met DNA repair. | Q38008913 |
| | mTOR kinase, a key player in the regulation of glial functions: relevance for the therapy of multiple sclerosis | Q38050335 |
| | Functional crosstalk between hOgg1 and the helicase domain of Cockayne syndrome group B protein | Q38358620 |
| | A ubiquitin-binding domain in Cockayne syndrome B required for transcription-coupled nucleotide excision repair | Q39694111 |
| | Comparative studies of glucose-fed and glucose-starved hamster cell cultures: Responses in galactose metabolism | Q40066380 |
| | Transcription-coupled repair and human disease | Q40556402 |
| | Mitochondrial repair of 8-oxoguanine is deficient in Cockayne syndrome group B. | Q40683322 |
| | An altered redox balance mediates the hypersensitivity of Cockayne syndrome primary fibroblasts to oxidative stress. | Q42503209 |
| | The basal levels of 8-oxoG and other oxidative modifications in intact mitochondrial DNA are low even in repair-deficient (Ogg1(-/-)/Csb(-/-)) mice | Q42517051 |
| | Neuroimaging in Cockayne syndrome. | Q43045058 |
| | The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency | Q43129154 |
| | MELAS: clinical features, muscle biopsy and molecular genetics | Q43282718 |
| | Maternally inherited diabetes and deafness: a multicenter study | Q43592578 |
| | Infantile onset spinocerebellar ataxia with sensory neuropathy: a new inherited disease | Q44707177 |
| | MERRF: Clinical features, muscle biopsy and molecular genetics in Brazilian patients | Q44835963 |
| | Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome. | Q44914346 |
| | P53 plays a protective role against UV- and cisplatin-induced apoptosis in transcription-coupled repair proficient fibroblasts. | Q44953358 |
| | NER factors are recruited to active promoters and facilitate chromatin modification for transcription in the absence of exogenous genotoxic attack. | Q45079199 |
| | A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria. | Q45969330 |
| | Accumulation of mitochondrial DNA damage and bioenergetic dysfunction in CSB defective cells. | Q46039182 |
| | Recessive twinkle mutations cause severe epileptic encephalopathy | Q46079276 |
| | Leigh syndrome: clinical and neuroimaging follow-up | Q46168384 |
| | Futile cycle of transcription initiation and termination modulates the response to nucleotide shortage in S. cerevisiae | Q46385613 |
| | Retinal and renal complications in patients with a mutation of mitochondrial DNA at position 3,243 (maternally inherited diabetes and deafness). A case-control study | Q46518216 |
| | SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness | Q48272670 |
| | Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age | Q48403808 |
| | Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations. | Q48447272 |
| | Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations | Q48459541 |
| | Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients. | Q48820917 |
| | Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations | Q48932377 |
| | Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations | Q48975124 |
| | Leigh syndrome: clinical features and biochemical and DNA abnormalities. | Q49107059 |
| | POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness. | Q50481342 |
| | Age-associated change in mitochondrial DNA damage. | Q50519650 |
| | Maternally inherited mitochondrial myopathy and myoclonic epilepsy. | Q50584350 |
| | Mitochondrial short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: a new defect of fatty acid oxidation. | Q51583597 |
| | Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutations. | Q51752193 |
| P433 | issue | 5-6 | |
| P304 | page(s) | 275-283 | |
| P577 | publication date | 2013-02-19 | |
| P1433 | published in | Mechanisms of Ageing and Development | Q1839797 |
| P1476 | title | Mitochondrial deficiency in Cockayne syndrome | |
| P478 | volume | 134 | |