Mitochondrial deficiency in Cockayne syndrome

Mechanisms of Ageing and Development

Volumn 134, Issue 5-6, 2013, Pages 275-283

  Scheibye Knudsen, Morten ^a   Croteau, Deborah L ^a   Bohr, Vilhelm A ^a  

^a NATIONAL INSTITUTE ON AGING   (United States)

Author keywords

Aging; Cockayne syndrome; DNA repair; Mitochondria; Transcription

Indexed keywords

AREFLEXIA; ARTICLE; ATAXIA; BRAIN ATROPHY; CATARACT; CELL INTERACTION; CELL NUCLEUS; CENTRAL NERVOUS SYSTEM DISEASE; CEREBELLUM ATROPHY; COCKAYNE SYNDROME; CONTRACTURE; DEVELOPMENTAL DISORDER; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EXCISION REPAIR; EXTRAPYRAMIDAL SYNDROME; HUMAN; HYPERTENSION; KYPHOSIS; LACTIC ACIDOSIS; LEUKODYSTROPHY; MITOPHAGY; NYSTAGMUS; OPTIC NERVE ATROPHY; PERCEPTION DEAFNESS; PERIPHERAL NEUROPATHY; PHOTOSENSITIVITY; PRIORITY JOURNAL; PRURITUS; REFLEX DISORDER; RETINITIS PIGMENTOSA; SEIZURE; SHORT STATURE; TOOTH DISEASE; TREMOR; VOMITING; WEIGHT REDUCTION; XEROPHTHALMIA;

ANIMALS; COCKAYNE SYNDROME; HUMANS; MITOCHONDRIA; MITOCHONDRIAL DISEASES;

EID: 84878018399     PISSN: 00476374     EISSN: 18726216     Source Type: Journal    
DOI: 10.1016/j.mad.2013.02.007     Document Type: Article

References (107)

1. Aamann M.D., Sorensen M.M., Hvitby C., Berquist B.R., Muftuoglu M., Tian J., de Souza-Pinto N.C., Scheibye-Knudsen M., Wilson D.M., Stevnsner T., Bohr V.A. Cockayne syndrome group B protein promotes mitochondrial DNA stability by supporting the DNA repair association with the mitochondrial membrane. FASEB Journal 2010, 24:2334-2346.
2. Angle B., Burton B.K. Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II. Molecular Genetics and Metabolism 2008, 93:36-39.
3. Anindya R., Mari P.O., Kristensen U., Kool H., Giglia-Mari G., Mullenders L.H., Fousteri M., Vermeulen W., Egly J.M., Svejstrup J.Q. A ubiquitin-binding domain in Cockayne syndrome B required for transcription-coupled nucleotide excision repair. Molecular Cell 2010, 38:637-648.
4. Aoyama T., Souri M., Ushikubo S., Kamijo T., Yamaguchi S., Kelley R.I., Rhead W.J., Uetake K., Tanaka K., Hashimoto T. Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients. Journal of Clinical Investigation 1995, 95:2465-2473.
5. Arnold J.J., Smidansky E.D., Moustafa I.M., Cameron C.E. Human mitochondrial RNA polymerase: structure-function, mechanism and inhibition. Biochimica et Biophysica Acta 2012, 1819:948-960.
6. Balaban R.S., Nemoto S., Finkel T. Mitochondria, oxidants, and aging. Cell 2005, 120:483-495.
7. Baloh R.H., Salavaggione E., Milbrandt J., Pestronk A. Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle. Archives of Neurology 2007, 64:998-1000.
8. Bennett M.J., Weinberger M.J., Kobori J.A., Rinaldo P., Burlina A.B. Mitochondrial short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: a new defect of fatty acid oxidation. Pediatric Research 1996, 39:185-188.
9. Berquist B.R., Canugovi C., Sykora P., Wilson D.M., Bohr V.A. Human Cockayne syndrome B protein reciprocally communicates with mitochondrial proteins and promotes transcriptional elongation. Nucleic Acids Research 2012, 40:8392-8405.
10. Berquist B.R., Wilson D.M. Nucleic acid binding activity of human Cockayne syndrome B protein and identification of Ca(2+) as a novel metal cofactor. Journal of Molecular Biology 2009, 391:820-832.
11. Bourdon A., Minai L., Serre V., Jais J.P., Sarzi E., Aubert S., Chretien D., de L.P., Paquis-Flucklinger V., Arakawa H., Nakamura Y., Munnich A., Rotig A. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nature Genetics 2007, 39:776-780.
12. Bove J., Martinez-Vicente M., Vila M. Fighting neurodegeneration with rapamycin: mechanistic insights. Nature Reviews Neuroscience 2011, 12:437-452.
13. Bradsher J., Auriol J., Proietti de S.L., Iben S., Vonesch J.L., Grummt I., Egly J.M. CSB is a component of RNA pol I transcription. Molecular Cell 2002, 10:819-829.
14. Camm J.H., Carpenter J.V. Dental treatment of a patient with Friedreich's ataxia. Special Care in Dentistry 1987, 7:117-119.
15. Carrozzo R., Dionisi-Vici C., Steuerwald U., Lucioli S., Deodato F., Di G.S., Bertini E., Franke B., Kluijtmans L.A., Meschini M.C., Rizzo C., Piemonte F., Rodenburg R., Santer R., Santorelli F.M., van R.A., Vermunt-de K.D., Morava E., Wevers R.A. SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain 2007, 130:862-874.
16. Christopher C.W., Colby W.W., Ullrey D., Kalckar H.M. Comparative studies of glucose-fed and glucose-starved hamster cell cultures: responses in galactose metabolism. Journal of Cellular Physiology 1977, 90:387-405.
17. Clayton D.A., Doda J.N., Friedberg E.C. The absence of a pyrimidine dimer repair mechanism in mammalian mitochondria. Proceedings of the National Academy of Sciences of the United States of America 1974, 71:2777-2781.
18. Compe E., Egly J.M. TFIIH: when transcription met DNA repair. Nature Reviews Molecular Cell Biology 2012, 13:343-354.
19. Corral-Debrinski M., Horton T., Lott M.T., Shoffner J.M., Beal M.F., Wallace D.C. Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age. Nature Genetics 1992, 2:324-329.
20. de Vries M.C., Rodenburg R.J., Morava E., van Kaauwen E.P., ter L.H., Mullaart R.A., Snoeck I.N., van Hasselt P.M., Harding P., van den Heuvel L.P., Smeitink J.A. Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations. European Journal of Pediatrics 2007, 166:229-234.
21. Dello R.C., Lisi L., Feinstein D.L., Navarra P. mTOR kinase, a key player in the regulation of glial functions: relevance for the therapy of multiple sclerosis. Glia 2012, 61:301-311.
22. Di F.A., Ronchi D., Lodi T., Fassone E., Tigano M., Lamperti C., Corti S., Bordoni A., Fortunato F., Nizzardo M., Napoli L., Donadoni C., Salani S., Saladino F., Moggio M., Bresolin N., Ferrero I., Comi G.P. The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency. American Journal of Human Genetics 2009, 84:594-604.
23. Ding W.X., Ni H.M., Li M., Liao Y., Chen X., Stolz D.B., Dorn G.W., Yin X.M. Nix is critical to two distinct phases of mitophagy, reactive oxygen species-mediated autophagy induction and Parkin-ubiquitin-p62-mediated mitochondrial priming. Journal of Biological Chemistry 2010, 285:27879-27890.
24. Diomedi-Camassei F., Di G.S., Santorelli F.M., Caridi G., Piemonte F., Montini G., Ghiggeri G.M., Murer L., Barisoni L., Pastore A., Muda A.O., Valente M.L., Bertini E., Emma F. COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement. Journal of the American Society of Nephrology 2007, 18:2773-2780.
25. Durr A., Cossee M., Agid Y., Campuzano V., Mignard C., Penet C., Mandel J.L., Brice A., Koenig M. Clinical and genetic abnormalities in patients with Friedreich's ataxia. New England Journal of Medicine 1996, 335:1169-1175.
26. Elpeleg O., Miller C., Hershkovitz E., Bitner-Glindzicz M., Bondi-Rubinstein G., Rahman S., Pagnamenta A., Eshhar S., Saada A. Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. American Journal of Human Genetics 2005, 76:1081-1086.
27. Fousteri M., Vermeulen W., van Zeeland A.A., Mullenders L.H. Cockayne syndrome A and B proteins differentially regulate recruitment of chromatin remodeling and repair factors to stalled RNA polymerase II in vivo. Molecular Cell 2006, 23:471-482.
28. Fratter C., Gorman G.S., Stewart J.D., Buddles M., Smith C., Evans J., Seller A., Poulton J., Roberts M., Hanna M.G., Rahman S., Omer S.E., Klopstock T., Schoser B., Kornblum C., Czermin B., Lecky B., Blakely E.L., Craig K., Chinnery P.F., Turnbull D.M., Horvath R., Taylor R.W. The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO. Neurology 2010, 74:1619-1626.
29. Freisinger P., Futterer N., Lankes E., Gempel K., Berger T.M., Spalinger J., Hoerbe A., Schwantes C., Lindner M., Santer R., Burdelski M., Schaefer H., Setzer B., Walker U.A., Horvath R. Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations. Archives of Neurology 2006, 63:1129-1134.
30. Gelfand J.M., Duncan J.L., Racine C.A., Gillum L.A., Chin C.T., Zhang Y., Zhang Q., Wong L.J., Roorda A., Green A.J. Heterogeneous patterns of tissue injury in NARP syndrome. Journal of Neurology 2011, 258:440-448.
31. Gohil V.M., Sheth S.A., Nilsson R., Wojtovich A.P., Lee J.H., Perocchi F., Chen W., Clish C.B., Ayata C., Brookes P.S., Mootha V.K. Nutrient-sensitized screening for drugs that shift energy metabolism from mitochondrial respiration to glycolysis. Nature Biotechnology 2010, 28:249-255.
32. Gotz A., Isohanni P., Pihko H., Paetau A., Herva R., Saarenpaa-Heikkila O., Valanne L., Marjavaara S., Suomalainen A. Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome. Brain 2008, 131:2841-2850.
33. Gray M.W. Mitochondrial evolution. Cold Spring Harbor Perspectives in Biology 2012, 4:a011403.
34. Gredilla R., Bohr V.A., Stevnsner T. Mitochondrial DNA repair and association with aging-an update. Experimental Gerontology 2010, 45:478-488.
35. Guillausseau P.J., Massin P., Dubois-LaForgue D., Timsit J., Virally M., Gin H., Bertin E., Blickle J.F., Bouhanick B., Cahen J., Caillat-Zucman S., Charpentier G., Chedin P., Derrien C., Ducluzeau P.H., Grimaldi A., Guerci B., Kaloustian E., Murat A., Olivier F., Paques M., Paquis-Flucklinger V., Porokhov B., Samuel-Lajeunesse J., Vialettes B. Maternally inherited diabetes and deafness: a multicenter study. Annals of Internal Medicine 2001, 134:721-728.
36. Haas R.H., Parikh S., Falk M.J., Saneto R.P., Wolf N.I., Darin N., Cohen B.H. Mitochondrial disease: a practical approach for primary care physicians. Pediatrics 2007, 120:1326-1333.
37. Hammans S.R., Sweeney M.G., Hanna M.G., Brockington M., Morgan-Hughes J.A., Harding A.E. The mitochondrial DNA transfer RNALeu(UUR) A→G(3243) mutation. A clinical and genetic study. Brain 1995, 118(Pt 3):721-734.
38. Hanawalt P.C. Transcription-coupled repair and human disease. Science 1994, 266:1957-1958.
39. Harrison D.E., Strong R., Sharp Z.D., Nelson J.F., Astle C.M., Flurkey K., Nadon N.L., Wilkinson J.E., Frenkel K., Carter C.S., Pahor M., Javors M.A., Fernandez E., Miller R.A. Rapamycin fed late in life extends lifespan in genetically heterogeneous mice. Nature 2009, 460:392-395.
40. Holt I.J., Harding A.E., Petty R.K., Morgan-Hughes J.A. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. American Journal of Human Genetics 1990, 46:428-433.
41. Hudson E.K., Hogue B.A., Souza-Pinto N.C., Croteau D.L., Anson R.M., Bohr V.A., Hansford R.G. Age-associated change in mitochondrial DNA damage. Free Radical Research 1998, 29:573-579.
42. Huoponen K. Leber hereditary optic neuropathy: clinical and molecular genetic findings. Neurogenetics 2001, 3:119-125.
43. Iafolla A.K., Thompson R.J., Roe C.R. Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children. Journal of Pediatrics 1994, 124:409-415.
44. Ito M., Kobashi H., Naito E., Saijo T., Takeda E., Huq A.H., Kuroda Y. Decrease of pyruvate dehydrogenase phosphatase activity in patients with congenital lactic acidemia. Clinica Chimica Acta 1992, 209:1-7.
45. Jeppesen D.K., Bohr V.A., Stevnsner T. DNA repair deficiency in neurodegeneration. Progress in Neurobiology 2011, 94:166-200.
46. Kamenisch Y., Fousteri M., Knoch J., von Thaler A.K., Fehrenbacher B., Kato H., Becker T., Dolle M.E., Kuiper R., Majora M., Schaller M., van der Horst G.T., van S.H., Rocken M., Rapaport D., Krutmann J., Mullenders L.H., Berneburg M. Proteins of nucleotide and base excision repair pathways interact in mitochondria to protect from loss of subcutaneous fat, a hallmark of aging. Journal of Experimental Medicine 2010, 207:379-390.
47. Karadimas C.L., Vu T.H., Holve S.A., Chronopoulou P., Quinzii C., Johnsen S.D., Kurth J., Eggers E., Palenzuela L., Tanji K., Bonilla E., De Vivo D.C., DiMauro S., Hirano M. Navajo neurohepatopathy is caused by a mutation in the MPV17 gene. American Journal of Human Genetics 2006, 79:544-548.
48. Koob M., Laugel V., Durand M., Fothergill H., Dalloz C., Sauvanaud F., Dollfus H., Namer I.J., Dietemann J.L. Neuroimaging in Cockayne syndrome. American Journal of Neuroradiology 2010, 31:1623-1630.
49. Koskinen T., Santavuori P., Sainio K., Lappi M., Kallio A.K., Pihko H. Infantile onset spinocerebellar ataxia with sensory neuropathy: a new inherited disease. Journal of the Neurological Sciences 1994, 121:50-56.
50. Kurt B., Jaeken J., Van H.J., Lagae L., Lofgren A., Everman D.B., Jayakar P., Naini A., Wierenga K.J., Van G.G., Copeland W.C., DiMauro S. A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes. Archives of Neurology 2010, 67:239-244.
51. Laine J.P., Egly J.M. Initiation of DNA repair mediated by a stalled RNA polymerase IIO. EMBO Journal 2006, 25:387-397.
52. Laplante M., Sabatini D.M. mTOR signaling in growth control and disease. Cell 2012, 149:274-293.
53. Laposa R.R., Huang E.J., Cleaver J.E. Increased apoptosis, p53 up-regulation, and cerebellar neuronal degeneration in repair-deficient Cockayne syndrome mice. Proceedings of the National Academy of Sciences of the United States of America 2007, 104:1389-1394.
54. Le M.N., Mota-Fernandes D., Velez-Cruz R., Iltis I., Biard D., Egly J.M. NER factors are recruited to active promoters and facilitate chromatin modification for transcription in the absence of exogenous genotoxic attack. Molecular Cell 2010, 38:54-66.
55. Lee H.F., Lee H.J., Chi C.S., Tsai C.R., Chang T.K., Wang C.J. The neurological evolution of Pearson syndrome: case report and literature review. European Journal of Paediatric Neurology 2007, 11:208-214.
56. Lee H.F., Tsai C.R., Chi C.S., Lee H.J., Chen C.C. Leigh syndrome: clinical and neuroimaging follow-up. Pediatric Neurology 2009, 40:88-93.
57. Lin M.T., Beal M.F. Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases. Nature 2006, 443:787-795.
58. Lodi R., Tonon C., Valentino M.L., Manners D., Testa C., Malucelli E., La M.C., Barboni P., Carbonelli M., Schimpf S., Wissinger B., Zeviani M., Baruzzi A., Liguori R., Barbiroli B., Carelli V. Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutations. Archives of Neurology 2011, 68:67-73.
59. Lonnqvist T., Paetau A., Valanne L., Pihko H. Recessive twinkle mutations cause severe epileptic encephalopathy. Brain 2009, 132:1553-1562.
60. Lorenzoni P.J., Scola R.H., Kay C.S., Arndt R.C., Freund A.A., Bruck I., Santos M.L., Werneck L.C. MELAS: clinical features, muscle biopsy and molecular genetics. Arquivos de Neuro-Psiquiatria 2009, 67:668-676.
61. Lorenzoni P.J., Scola R.H., Kay C.S., Arndt R.C., Silvado C.E., Werneck L.C. MERRF: clinical features, muscle biopsy and molecular genetics in Brazilian patients. Mitochondrion 2011, 11:528-532.
62. Lowell B.B., Shulman G.I. Mitochondrial dysfunction and type 2 diabetes. Science 2005, 307:384-387.
63. Maj M.C., MacKay N., Levandovskiy V., Addis J., Baumgartner E.R., Baumgartner M.R., Robinson B.H., Cameron J.M. Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation. The Journal of Clinical Endocrinology & Metabolism 2005, 90:4101-4107.
64. Mancuso M., Filosto M., Bellan M., Liguori R., Montagna P., Baruzzi A., DiMauro S., Carelli V. POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness. Neurology 2004, 62:316-318.
65. Massin P., Dubois-LaForgue D., Meas T., Laloi-Michelin M., Gin H., Bauduceau B., Bellanne-Chantelot C., Bertin E., Blickle J.F., Bouhanick B., Cahen-Varsaux J., Casanova S., Charpentier G., Chedin P., Dupuy O., Grimaldi A., Guerci B., Kaloustian E., Lecleire-Collet A., Lorenzini F., Murat A., Narbonne H., Olivier F., Paquis-Flucklinger V., Virally M., Vincenot M., Vialettes B., Timsit J., Guillausseau P.J. 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. Diabetologia 2008, 51:1664-1670.
66. Mayne L.V., Lehmann A.R. Failure of RNA synthesis to recover after UV irradiation: an early defect in cells from individuals with Cockayne's syndrome and xeroderma pigmentosum. Cancer Research 1982, 42:1473-1478.
67. McKay B.C., Becerril C., Ljungman M. P53 plays a protective role against UV- and cisplatin-induced apoptosis in transcription-coupled repair proficient fibroblasts. Oncogene 2001, 20:6805-6808.
68. Mercer J.R., Cheng K.K., Figg N., Gorenne I., Mahmoudi M., Griffin J., Vidal-Puig A., Logan A., Murphy M.P., Bennett M. DNA damage links mitochondrial dysfunction to atherosclerosis and the metabolic syndrome. Circulation Research 2010, 107:1021-1031.
69. Morava E., Sengers R., ter L.H., Van Den Heuvel L., Janssen A., Trijbels F., Cruysberg H., Boelen C., Smeitink J. Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome. European Journal of Pediatrics 2004, 163:467-471.
70. Muftuoglu M., de Souza-Pinto N.C., Dogan A., Aamann M., Stevnsner T., Rybanska I., Kirkali G., Dizdaroglu M., Bohr V.A. Cockayne syndrome group B protein stimulates repair of formamidopyrimidines by NEIL1 DNA glycosylase. Journal of Biological Chemistry 2009, 284:9270-9279.
71. Nance M.A., Berry S.A. Cockayne syndrome: review of 140 cases. American Journal of Medical Genetics 1992, 42:68-84.
72. Natale V. A comprehensive description of the severity groups in Cockayne syndrome. American Journal of Medical Genetics Part A 2011, 155A:1081-1095.
73. Nikoskelainen E., Wanne O., Dahl M. Pre-excitation syndrome and Leber's hereditary optic neuroretinopathy. Lancet 1985, 1:696.
74. Nishino I., Spinazzola A., Papadimitriou A., Hammans S., Steiner I., Hahn C.D., Connolly A.M., Verloes A., Guimaraes J., Maillard I., Hamano H., Donati M.A., Semrad C.E., Russell J.A., Andreu A.L., Hadjigeorgiou G.M., Vu T.H., Tadesse S., Nygaard T.G., Nonaka I., Hirano I., Bonilla E., Rowland L.P., DiMauro S., Hirano M. Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. Annals of Neurology 2000, 47:792-800.
75. Osenbroch P.O., Auk-Emblem P., Halsne R., Strand J., Forstrom R.J., van d.P.I., Eide L. Accumulation of mitochondrial DNA damage and bioenergetic dysfunction in CSB defective cells. FEBS Journal 2009, 276:2811-2821.
76. Ostergaard E., Schwartz M., Batbayli M., Christensen E., Hjalmarson O., Kollberg G., Holme E. A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria. European Journal of Pediatrics 2010, 169:201-205.
77. Pascucci B., Lemma T., Iorio E., Giovannini S., Vaz B., Iavarone I., Calcagnile A., Narciso L., Degan P., Podo F., Roginskya V., Janjic B.M., Van H.B., Stefanini M., Dogliotti E., D'Errico M. An altered redox balance mediates the hypersensitivity of Cockayne syndrome primary fibroblasts to oxidative stress. Aging Cell 2012, 11:520-529.
78. Rahman S., Blok R.B., Dahl H.H., Danks D.M., Kirby D.M., Chow C.W., Christodoulou J., Thorburn D.R. Leigh syndrome: clinical features and biochemical and DNA abnormalities. Annals of Neurology 1996, 39:343-351.
79. Riley L.G., Cooper S., Hickey P., Rudinger-Thirion J., McKenzie M., Compton A., Lim S.C., Thorburn D., Ryan M.T., Giege R., Bahlo M., Christodoulou J. Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia-MLASA syndrome. American Journal of Human Genetics 2010, 87:52-59.
80. Rosing H.S., Hopkins L.C., Wallace D.C., Epstein C.M., Weidenheim K. Maternally inherited mitochondrial myopathy and myoclonic epilepsy. Annals of Neurology 1985, 17:228-237.
81. Rotig A., Mollet J., Rio M., Munnich A. Infantile and pediatric quinone deficiency diseases. Mitochondrion 2007, 7(Suppl.):S112-S121.
82. Schapira A.H. Mitochondrial disease. Lancet 2006, 368:70-82.
83. Scheibye-Knudsen M., Ramamoorthy M., Sykora P., Maynard S., Lin P.C., Minor R.K., Wilson D.M., Cooper M., Spencer R., de C.R., Croteau D.L., Bohr V.A. Cockayne syndrome group B protein prevents the accumulation of damaged mitochondria by promoting mitochondrial autophagy. Journal of Experimental Medicine 2012, 209:855-869.
84. Schriner S.E., Linford N.J., Martin G.M., Treuting P., Ogburn C.E., Emond M., Coskun P.E., Ladiges W., Wolf N., Van R.H., Wallace D.C., Rabinovitch P.S. Extension of murine life span by overexpression of catalase targeted to mitochondria. Science 2005, 308:1909-1911.
85. Schulte C., Synofzik M., Gasser T., Schols L. Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations. Neurology 2009, 73:898-900.
86. Schweers R.L., Zhang J., Randall M.S., Loyd M.R., Li W., Dorsey F.C., Kundu M., Opferman J.T., Cleveland J.L., Miller J.L., Ney P.A. NIX is required for programmed mitochondrial clearance during reticulocyte maturation. Proceedings of the National Academy of Sciences of the United States of America 2007, 104:19500-19505.
87. Selby C.P., Sancar A. Cockayne syndrome group B protein enhances elongation by RNA polymerase II. Proceedings of the National Academy of Sciences of the United States of America 1997, 94:11205-11209.
88. Singh K.K., Sigala B., Sikder H.A., Schwimmer C. Inactivation of Saccharomyces cerevisiae OGG1 DNA repair gene leads to an increased frequency of mitochondrial mutants. Nucleic Acids Research 2001, 29:1381-1388.
89. Spinazzola A., Santer R., Akman O.H., Tsiakas K., Schaefer H., Ding X., Karadimas C.L., Shanske S., Ganesh J., Di M.S., Zeviani M. Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations. Archives of Neurology 2008, 65:1108-1113.
90. Stevnsner T., Muftuoglu M., Aamann M.D., Bohr V.A. The role of Cockayne syndrome group B (CSB) protein in base excision repair and aging. Mechanisms of Ageing and Development 2008, 129:441-448.
91. Stevnsner T., Nyaga S., de Souza-Pinto N.C., van der Horst G.T., Gorgels T.G., Hogue B.A., Thorslund T., Bohr V.A. Mitochondrial repair of 8-oxoguanine is deficient in Cockayne syndrome group B. Oncogene 2002, 21:8675-8682.
92. Taanman J.W., Kateeb I., Muntau A.C., Jaksch M., Cohen N., Mandel H. A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA. Annals of Neurology 2002, 52:237-239.
93. Tein I., Elpeleg O., Ben-Zeev B., Korman S.H., Lossos A., Lev D., Lerman-Sagie T., Leshinsky-Silver E., Vockley J., Berry G.T., Lamhonwah A.M., Matern D., Roe C.R., Gregersen N. 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. Molecular Genetics and Metabolism 2008, 93:179-189.
94. Thiebaut M., Colin J., Neil H., Jacquier A., Seraphin B., Lacroute F., Libri D. Futile cycle of transcription initiation and termination modulates the response to nucleotide shortage in S. cerevisiae. Molecular Cell 2008, 31:671-682.
95. Thorslund T., von K.C., Harrigan J.A., Indig F.E., Christiansen M., Stevnsner T., Bohr V.A. Cooperation of the Cockayne syndrome group B protein and poly(ADP-ribose) polymerase 1 in the response to oxidative stress. Molecular and Cellular Biology 2005, 25:7625-7636.
96. Trapp C., McCullough A.K., Epe B. The basal levels of 8-oxoG and other oxidative modifications in intact mitochondrial DNA are low even in repair-deficient (Ogg1(-/-)/Csb(-/-)) mice. Mutation Research 2007, 625:155-163.
97. Trifunovic A., Wredenberg A., Falkenberg M., Spelbrink J.N., Rovio A.T., Bruder C.E., Bohlooly Y., Gidlof S., Oldfors A., Wibom R., Tornell J., Jacobs H.T., Larsson N.G. Premature ageing in mice expressing defective mitochondrial DNA polymerase. Nature 2004, 429:417-423.
98. Tuo J., Chen C., Zeng X., Christiansen M., Bohr V.A. Functional crosstalk between hOgg1 and the helicase domain of Cockayne syndrome group B protein. DNA Repair (Amst) 2002, 1:913-927.
99. Tyni T., Palotie A., Viinikka L., Valanne L., Salo M.K., von D.U., Jackson S., Wanders R., Venizelos N., Pihko H. Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients. Journal of Pediatrics 1997, 130:67-76.
100. Valentin-Vega Y.A., Maclean K.H., Tait-Mulder J., Milasta S., Steeves M., Dorsey F.C., Cleveland J.L., Green D.R., Kastan M.B. Mitochondrial dysfunction in ataxia-telangiectasia. Blood 2012, 119:1490-1500.
101. Vartanian V., Lowell B., Minko I.G., Wood T.G., Ceci J.D., George S., Ballinger S.W., Corless C.L., McCullough A.K., Lloyd R.S. The metabolic syndrome resulting from a knockout of the NEIL1 DNA glycosylase. Proceedings of the National Academy of Sciences of the United States of America 2006, 103:1864-1869.
102. Winterthun S., Ferrari G., He L., Taylor R.W., Zeviani M., Turnbull D.M., Engelsen B.A., Moen G., Bindoff L.A. Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. Neurology 2005, 64:1204-1208.
103. Wong H.K., Muftuoglu M., Beck G., Imam S.Z., Bohr V.A., Wilson D.M. Cockayne syndrome B protein stimulates apurinic endonuclease 1 activity and protects against agents that introduce base excision repair intermediates. Nucleic Acids Research 2007, 35:4103-4113.
104. Yu A., Fan H.Y., Liao D., Bailey A.D., Weiner A.M. Activation of p53 or loss of the Cockayne syndrome group B repair protein causes metaphase fragility of human U1, U2, and 5S genes. Molecular Cell 2000, 5:801-810.
105. Yu-Wai-Man P., Griffiths P.G., Gorman G.S., Lourenco C.M., Wright A.F., Auer-Grumbach M., Toscano A., Musumeci O., Valentino M.L., Caporali L., Lamperti C., Tallaksen C.M., Duffey P., Miller J., Whittaker R.G., Baker M.R., Jackson M.J., Clarke M.P., Dhillon B., Czermin B., Stewart J.D., Hudson G., Reynier P., Bonneau D., Marques W., Lenaers G., McFarland R., Taylor R.W., Turnbull D.M., Votruba M., Zeviani M., Carelli V., Bindoff L.A., Horvath R., Amati-Bonneau P., Chinnery P.F. Multi-system neurological disease is common in patients with OPA1 mutations. Brain 2010, 133:771-786.
106. Yuan X., Feng W., Imhof A., Grummt I., Zhou Y. Activation of RNA polymerase I transcription by cockayne syndrome group B protein and histone methyltransferase G9a. Molecular Cell 2007, 27:585-595.
107. Zelnik N., Axelrod F.B., Leshinsky E., Griebel M.L., Kolodny E.H. Mitochondrial encephalomyopathies presenting with features of autonomic and visceral dysfunction. Pediatric Neurology 1996, 14:251-254.