-
1
-
-
67649392777
-
Clinical reasoning: Blurred vision and dancing feet: Restless legs syndrome presenting in mitochondrial disease
-
Aitken H, Gorman G, McFarland R, Roberts M, Taylor RW, Turnbull DM. 2009. Clinical reasoning: Blurred vision and dancing feet: Restless legs syndrome presenting in mitochondrial disease. Neurology 72: e86-90.
-
(2009)
Neurology
, vol.72
-
-
Aitken, H.1
Gorman, G.2
McFarland, R.3
Roberts, M.4
Taylor, R.W.5
Turnbull, D.M.6
-
2
-
-
79953735503
-
Ultra-deep sequencing of mouse mitochondrial DNA: Mutational patterns and their origins
-
Ameur A, Stewart JB, Freyer C, Hagstrom E, Ingman M, Larsson NG, Gyllensten U. 2011. Ultra-deep sequencing of mouse mitochondrial DNA: mutational patterns and their origins. PLoS Genet 7: e1002028.
-
(2011)
PLoS Genet
, vol.7
-
-
Ameur, A.1
Stewart, J.B.2
Freyer, C.3
Hagstrom, E.4
Ingman, M.5
Larsson, N.G.6
Gyllensten, U.7
-
3
-
-
67049145568
-
R964C mutation of DNA polymerase {hooked} imparts increased stavudine toxicity by decreasing nucleoside analog discrimination and impairing polymerase activity
-
Bailey CM, Kasiviswanathan R, Copeland WC, Anderson KS. 2009a. R964C mutation of DNA polymerase {hooked} imparts increased stavudine toxicity by decreasing nucleoside analog discrimination and impairing polymerase activity. Antimicrob Agents Chemother 53: 2610-2612.
-
(2009)
Antimicrob Agents Chemother
, vol.53
, pp. 2610-2612
-
-
Bailey, C.M.1
Kasiviswanathan, R.2
Copeland, W.C.3
Anderson, K.S.4
-
4
-
-
65549121567
-
Mice expressing an errorprone DNA polymerase in mitochondria display elevated replication pausing and chromosomal breakage at fragile sites of mitochondrial DNA
-
Bailey LJ, Cluett TJ, Reyes A, Prolla TA, Poulton J, Leeuwenburgh C, Holt IJ. 2009b. Mice expressing an errorprone DNA polymerase in mitochondria display elevated replication pausing and chromosomal breakage at fragile sites of mitochondrial DNA. Nucleic Acids Res 37: 2327-2335.
-
(2009)
Nucleic Acids Res
, vol.37
, pp. 2327-2335
-
-
Bailey, L.J.1
Cluett, T.J.2
Reyes, A.3
Prolla, T.A.4
Poulton, J.5
Leeuwenburgh, C.6
Holt, I.J.7
-
5
-
-
76349120598
-
Construction and validation of a yeast model system for studying in vivo the susceptibility to nucleoside analogues of DNA polymerase {hooked} allelic variants
-
Baruffini E, Lodi T. 2010. Construction and validation of a yeast model system for studying in vivo the susceptibility to nucleoside analogues of DNA polymerase {hooked} allelic variants. Mitochondrion 10: 183-187.
-
(2010)
Mitochondrion
, vol.10
, pp. 183-187
-
-
Baruffini, E.1
Lodi, T.2
-
6
-
-
33749004245
-
Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans
-
Baruffini E, Lodi T, Dallabona C, Puglisi A, Zeviani M, Ferrero I. 2006. Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans. Hum Mol Genet 15: 2846-2855.
-
(2006)
Hum Mol Genet
, vol.15
, pp. 2846-2855
-
-
Baruffini, E.1
Lodi, T.2
Dallabona, C.3
Puglisi, A.4
Zeviani, M.5
Ferrero, I.6
-
7
-
-
37049033589
-
Mitochondrial DNA defects in Saccharomyces cerevisiae caused by functional interactions between DNA polymerase {hooked} mutations associated with disease in human
-
Baruffini E, Ferrero I, Foury F. 2007. Mitochondrial DNA defects in Saccharomyces cerevisiae caused by functional interactions between DNA polymerase γ mutations associated with disease in human. Biochim Biophys Acta 1772: 1225-1235.
-
(2007)
Biochim Biophys Acta
, vol.1772
, pp. 1225-1235
-
-
Baruffini, E.1
Ferrero, I.2
Foury, F.3
-
8
-
-
78649984326
-
Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model
-
Baruffini E, Horvath R, Dallabona C, Czermin B, Lamantea E, Bindoff L, Invernizzi F, Ferrero I, Zeviani M, Lodi T. 2011. Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model. Mitochondrion 11: 182-190.
-
(2011)
Mitochondrion
, vol.11
, pp. 182-190
-
-
Baruffini, E.1
Horvath, R.2
Dallabona, C.3
Czermin, B.4
Lamantea, E.5
Bindoff, L.6
Invernizzi, F.7
Ferrero, I.8
Zeviani, M.9
Lodi, T.10
-
9
-
-
0026469782
-
Early childhood hepatocerebral degeneration misdiagnosed as valproate hepatotoxicity
-
Bicknese AR, May W, Hickey WF, Dodson WE. 1992. Early childhood hepatocerebral degeneration misdiagnosed as valproate hepatotoxicity. Ann Neurol 32: 767-775.
-
(1992)
Ann Neurol
, vol.32
, pp. 767-775
-
-
Bicknese, A.R.1
May, W.2
Hickey, W.F.3
Dodson, W.E.4
-
10
-
-
72449155684
-
The unfolding clinical spectrum of POLG mutations
-
Blok MJ, Van den Bosch BJ, Jongen E, Hendrickx A, de Die- Smulders CE, Hoogendijk JE, Brusse E, de Visser M, Poll-The BT, Bierau J et al. 2009. The unfolding clinical spectrum of POLG mutations. J Med Genet 46: 776-785.
-
(2009)
J Med Genet
, vol.46
, pp. 776-785
-
-
Blok, M.J.1
Van den Bosch, B.J.2
Jongen, E.3
Hendrickx, A.4
de Die-Smulders, C.E.5
Hoogendijk, J.E.6
Brusse, E.7
de Visser, M.8
Poll- The, B.T.9
Bierau, J.10
-
11
-
-
34249811206
-
Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion
-
Bourdon A, Minai L, Serre V, Jais JP, Sarzi E, Aubert S, Chretien D, de Lonlay P, Paquis-Flucklinger V, Arakawa H et al. 2007. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat Genet 39: 776-780.
-
(2007)
Nat Genet
, vol.39
, pp. 776-780
-
-
Bourdon, A.1
Minai, L.2
Serre, V.3
Jais, J.P.4
Sarzi, E.5
Aubert, S.6
Chretien, D.7
de Lonlay, P.8
Paquis-Flucklinger, V.9
Arakawa, H.10
-
12
-
-
67349191588
-
DNA polymerase {hooked} and mitochondrial disease: Understanding the consequence of POLG mutations
-
Chan SS, Copeland WC. 2009. DNA polymerase {hooked} and mitochondrial disease: Understanding the consequence of POLG mutations. Biochim Biophys Acta 1787: 312-319.
-
(2009)
Biochim Biophys Acta
, vol.1787
, pp. 312-319
-
-
Chan, S.S.1
Copeland, W.C.2
-
13
-
-
24744464580
-
The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit
-
Chan SSL, Longley MJ, Copeland WC. 2005a. The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit. J Biol Chem 280: 31341-31346.
-
(2005)
J Biol Chem
, vol.280
, pp. 31341-31346
-
-
Chan, S.S.L.1
Longley, M.J.2
Copeland, W.C.3
-
14
-
-
27844529585
-
Mono-allelic POLG expression resulting from nonsensemediated decay and alternative splicing in a patient with Alpers syndrome
-
Chan SSL, Longley MJ, Naviaux RK, Copeland WC. 2005b. Mono-allelic POLG expression resulting from nonsensemediated decay and alternative splicing in a patient with Alpers syndrome. DNA Repair 4: 1381-1389.
-
(2005)
DNA Repair
, vol.4
, pp. 1381-1389
-
-
Chan, S.S.L.1
Longley, M.J.2
Naviaux, R.K.3
Copeland, W.C.4
-
15
-
-
33751384305
-
Modulation of the W748S mutation in DNA polymerase {hooked} by the E1143G polymorphism in mitochondrial disorders
-
Chan SSL, Longley MJ, Copeland WC. 2006. Modulation of the W748S mutation in DNA polymerase {hooked} by the E1143G polymorphism in mitochondrial disorders. Hum Mol Genet 15: 3473-3483.
-
(2006)
Hum Mol Genet
, vol.15
, pp. 3473-3483
-
-
Chan, S.S.L.1
Longley, M.J.2
Copeland, W.C.3
-
16
-
-
41549151612
-
155th ENMC workshop: Polymerase and disorders of mitochondrial DNA synthesis, 21-23 September 2007, Naarden, The Netherlands
-
Chinnery PF, Zeviani M. 2008. 155th ENMC workshop: Polymerase and disorders of mitochondrial DNA synthesis, 21-23 September 2007, Naarden, The Netherlands. Neuromuscul Disord 18: 259-267.
-
(2008)
Neuromuscul Disord
, vol.18
, pp. 259-267
-
-
Chinnery, P.F.1
Zeviani, M.2
-
17
-
-
77955269817
-
The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders
-
Cohen BH, Naviaux RK. 2010. The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders. Methods 51: 364-373.
-
(2010)
Methods
, vol.51
, pp. 364-373
-
-
Cohen, B.H.1
Naviaux, R.K.2
-
18
-
-
81855192225
-
POLG-related disorders
-
University of Washington, Seattle, WA
-
Cohen BH, Chinnery PF, Copeland WC. 2010. POLG-related disorders. In Gene reviews at gene tests: Medical genetics information resource (http://wwwgenetestsorg), University of Washington, Seattle, WA.
-
(2010)
In Gene Reviews At Gene Tests: Medical Genetics Information Resource
-
-
Cohen, B.H.1
Chinnery, P.F.2
Copeland, W.C.3
-
19
-
-
39649120348
-
Inherited mitochondrial diseases of DNA replication
-
Copeland WC. 2008. Inherited mitochondrial diseases of DNA replication. Annu Rev Med 59: 131-146.
-
(2008)
Annu Rev Med
, vol.59
, pp. 131-146
-
-
Copeland, W.C.1
-
20
-
-
78049434938
-
Age-dependent cardiomyopathy in mitochondrial mutator mice is attenuated by overexpression of catalase targeted to mitochondria
-
Dai DF, Chen T, Wanagat J, Laflamme M, Marcinek DJ, Emond MJ, Ngo CP, Prolla TA, Rabinovitch PS. 2010. Age-dependent cardiomyopathy in mitochondrial mutator mice is attenuated by overexpression of catalase targeted to mitochondria. Aging Cell 9: 536-544.
-
(2010)
Aging Cell
, vol.9
, pp. 536-544
-
-
Dai, D.F.1
Chen, T.2
Wanagat, J.3
Laflamme, M.4
Marcinek, D.J.5
Emond, M.J.6
Ngo, C.P.7
Prolla, T.A.8
Rabinovitch, P.S.9
-
21
-
-
33847612847
-
Multiple oxi dative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase {hooked} (POLG1) mutations
-
de Vries MC, Rodenburg RJ, Morava E, van Kaauwen EP, Ter Laak H, Mullaart RA, Snoeck IN, van Hasselt PM, Harding P, van den Heuvel LP, et al. 2007. Multiple oxi dative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase {hooked} (POLG1) mutations. Eur J Pediatr 166: 229-234.
-
(2007)
Eur J Pediatr
, vol.166
, pp. 229-234
-
-
de Vries, M.C.1
Rodenburg, R.J.2
Morava, E.3
van Kaauwen, E.P.4
Ter Laak, H.5
Mullaart, R.A.6
Snoeck, I.N.7
van Hasselt, P.M.8
Harding, P.9
van den Heuvel, L.P.10
-
22
-
-
4444276204
-
POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions
-
Di Fonzo A, Bordoni A, Crimi M, Sara G, Bo RD, Bresolin N, Comi GP. 2003. POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions. Hum Mutat 22: 498-499.
-
(2003)
Hum Mutat
, vol.22
, pp. 498-499
-
-
Di Fonzo, A.1
Bordoni, A.2
Crimi, M.3
Sara, G.4
Bo, R.D.5
Bresolin, N.6
Comi, G.P.7
-
23
-
-
77954371509
-
Quantitative evaluation of the mitochondrial DNA depletion syndrome
-
Dimmock D, Tang LY, Schmitt ES, Wong LJ. 2010. Quantitative evaluation of the mitochondrial DNA depletion syndrome. Clin Chem 56: 1119-1127.
-
(2010)
Clin Chem
, vol.56
, pp. 1119-1127
-
-
Dimmock, D.1
Tang, L.Y.2
Schmitt, E.S.3
Wong, L.J.4
-
24
-
-
68049115765
-
Random point mutations with major effects on protein-coding genes are the driving force behind premature aging in mtDNA mutator mice
-
Edgar D, Shabalina I, Camara Y, Wredenberg A, Calvaruso MA, Nijtmans L, Nedergaard J, Cannon B, Larsson NG, Trifunovic A. 2009. Random point mutations with major effects on protein-coding genes are the driving force behind premature aging in mtDNA mutator mice. Cell Metab 10: 131-138.
-
(2009)
Cell Metab
, vol.10
, pp. 131-138
-
-
Edgar, D.1
Shabalina, I.2
Camara, Y.3
Wredenberg, A.4
Calvaruso, M.A.5
Nijtmans, L.6
Nedergaard, J.7
Cannon, B.8
Larsson, N.G.9
Trifunovic, A.10
-
25
-
-
39749121457
-
POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection
-
Engelsen BA, Tzoulis C, Karlsen B, Lillebo A, Laegreid LM, Aasly J, Zeviani M, Bindoff LA. 2008. POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. Brain 131: 818-828.
-
(2008)
Brain
, vol.131
, pp. 818-828
-
-
Engelsen, B.A.1
Tzoulis, C.2
Karlsen, B.3
Lillebo, A.4
Laegreid, L.M.5
Aasly, J.6
Zeviani, M.7
Bindoff, L.A.8
-
26
-
-
0030753958
-
Sensory ataxic neuropathy as the presenting feature of a novel mitochondrial disease
-
Fadic R, Russell JA, Vedanarayanan VV, Lehar M, Kuncl RW, Johns DR. 1997. Sensory ataxic neuropathy as the presenting feature of a novel mitochondrial disease. Neurology 49: 239-245.
-
(1997)
Neurology
, vol.49
, pp. 239-245
-
-
Fadic, R.1
Russell, J.A.2
Vedanarayanan, V.V.3
Lehar, M.4
Kuncl, R.W.5
Johns, D.R.6
-
27
-
-
20144388894
-
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-{hooked} A
-
Ferrari G, Lamantea E, Donati A, Filosto M, Briem E, Carrara F, Parini R, Simonati A, Santer R, Zeviani M. 2005. Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-{hooked} A. Brain 128: 723-731.
-
(2005)
Brain
, vol.128
, pp. 723-731
-
-
Ferrari, G.1
Lamantea, E.2
Donati, A.3
Filosto, M.4
Briem, E.5
Carrara, F.6
Parini, R.7
Simonati, A.8
Santer, R.9
Zeviani, M.10
-
28
-
-
30344443067
-
Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population
-
Gonzalez-Vioque E, Blazquez A, Fernandez-Moreira D, Bornstein B, Bautista J, Arpa J, Navarro C, Campos Y, Fernandez-Moreno MA, Garesse R, et al. 2006. Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population. Arch Neurol 63: 107-111.
-
(2006)
Arch Neurol
, vol.63
, pp. 107-111
-
-
Gonzalez-Vioque, E.1
Blazquez, A.2
Fernandez-Moreira, D.3
Bornstein, B.4
Bautista, J.5
Arpa, J.6
Navarro, C.7
Campos, Y.8
Fernandez-Moreno, M.A.9
Garesse, R.10
-
29
-
-
0026672705
-
Purification and identification of subunit structure of the human mitochondrial DNA polymerase
-
Gray H, Wong TW. 1992. Purification and identification of subunit structure of the human mitochondrial DNA polymerase. J Biol Chem 267: 5835-5841.
-
(1992)
J Biol Chem
, vol.267
, pp. 5835-5841
-
-
Gray, H.1
Wong, T.W.2
-
30
-
-
3543039417
-
Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia
-
Graziewicz MA, Longley MJ, Bienstock RJ, Zeviani M, Copeland WC. 2004. Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia. Nat Struct Mol Biol 11: 770-776.
-
(2004)
Nat Struct Mol Biol
, vol.11
, pp. 770-776
-
-
Graziewicz, M.A.1
Longley, M.J.2
Bienstock, R.J.3
Zeviani, M.4
Copeland, W.C.5
-
31
-
-
77953808330
-
Mitochondrial DNA deletions in mice in men: Substantia nigra is much less affected in the mouse
-
Guo X, Kudryavtseva E, Bodyak N, Nicholas A, Dombrovsky I, Yang D, Kraytsberg Y, Simon DK, Khrapko K. 2010. Mitochondrial DNA deletions in mice in men: Substantia nigra is much less affected in the mouse. Biochim Biophys Acta 1797: 1159-1162.
-
(2010)
Biochim Biophys Acta
, vol.1797
, pp. 1159-1162
-
-
Guo, X.1
Kudryavtseva, E.2
Bodyak, N.3
Nicholas, A.4
Dombrovsky, I.5
Yang, D.6
Kraytsberg, Y.7
Simon, D.K.8
Khrapko, K.9
-
32
-
-
36849091403
-
Mitochondrial disease: A practical approach for primary care physicians
-
Haas RH, Parikh S, Falk MJ, Saneto RP, Wolf NI, Darin N, Cohen BH. 2007. Mitochondrial disease: A practical approach for primary care physicians. Pediatrics 120: 1326-1333.
-
(2007)
Pediatrics
, vol.120
, pp. 1326-1333
-
-
Haas, R.H.1
Parikh, S.2
Falk, M.J.3
Saneto, R.P.4
Wolf, N.I.5
Darin, N.6
Cohen, B.H.7
-
33
-
-
41949098832
-
The in-depth evaluation of suspected mitochondrial disease
-
Haas RH, Parikh S, Falk MJ, Saneto RP, Wolf NI, Darin N, Wong LJ, Cohen BH, Naviaux RK. 2008. The in-depth evaluation of suspected mitochondrial disease. Mol Genet Metab 94: 16-37.
-
(2008)
Mol Genet Metab
, vol.94
, pp. 16-37
-
-
Haas, R.H.1
Parikh, S.2
Falk, M.J.3
Saneto, R.P.4
Wolf, N.I.5
Darin, N.6
Wong, L.J.7
Cohen, B.H.8
Naviaux, R.K.9
-
34
-
-
23944508509
-
Mitochondrial DNA polymerase W748S mutation: A common cause of autosomal recessive ataxia with ancient European origin
-
Hakonen AH, Heiskanen S, Juvonen V, Lappalainen I, Luoma PT, Rantamaki M, Goethem GV, Lofgren A, Hackman P, Paetau A, et al. 2005. Mitochondrial DNA polymerase W748S mutation: A common cause of autosomal recessive ataxia with ancient European origin. Am J Hum Genet 77: 430-441.
-
(2005)
Am J Hum Genet
, vol.77
, pp. 430-441
-
-
Hakonen, A.H.1
Heiskanen, S.2
Juvonen, V.3
Lappalainen, I.4
Luoma, P.T.5
Rantamaki, M.6
Goethem, G.V.7
Lofgren, A.8
Hackman, P.9
Paetau, A.10
-
35
-
-
26444432919
-
Mitochondrial DNA polymerase {hooked} is essential for mammalian embryogenesis
-
Hance N, Ekstrand MI, Trifunovic A. 2005. Mitochondrial DNA polymerase {hooked} is essential for mammalian embryogenesis. Hum Mol Genet 14: 1775-1783.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 1775-1783
-
-
Hance, N.1
Ekstrand, M.I.2
Trifunovic, A.3
-
36
-
-
0024999128
-
Progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher syndrome): A personal review
-
Harding BN. 1990. Progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher syndrome): A personal review. J Child Neurol 5: 273-287.
-
(1990)
J Child Neurol
, vol.5
, pp. 273-287
-
-
Harding, B.N.1
-
37
-
-
0028301915
-
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder
-
Hirano M, Silvestri G, Blake DM, Lombes A, Minetti C, Bonilla E, Hays AP, Lovelace RE, Butler I, Bertorini TE, et al. 1994. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. Neurology 44: 721-727.
-
(1994)
Neurology
, vol.44
, pp. 721-727
-
-
Hirano, M.1
Silvestri, G.2
Blake, D.M.3
Lombes, A.4
Minetti, C.5
Bonilla, E.6
Hays, A.P.7
Lovelace, R.E.8
Butler, I.9
Bertorini, T.E.10
-
38
-
-
33745713884
-
Phenotypic spectrum associated with mutations of the mitochondrial polymerase {hooked} gene
-
Horvath R, Hudson G, Ferrari G, Futterer N, Ahola S, Lamantea E, Prokisch H, Lochmuller H, McFarland R, Ramesh V, et al. 2006. Phenotypic spectrum associated with mutations of the mitochondrial polymerase {hooked} gene. Brain 129: 1674-1684.
-
(2006)
Brain
, vol.129
, pp. 1674-1684
-
-
Horvath, R.1
Hudson, G.2
Ferrari, G.3
Futterer, N.4
Ahola, S.5
Lamantea, E.6
Prokisch, H.7
Lochmuller, H.8
McFarland, R.9
Ramesh, V.10
-
39
-
-
0033935975
-
Pharmacology of nucleoside and nucleotide reverse transcriptase inhibitor-induced mitochondrial toxicity
-
Kakuda TN. 2000. Pharmacology of nucleoside and nucleotide reverse transcriptase inhibitor-induced mitochondrial toxicity. Clin Ther 22: 685-708.
-
(2000)
Clin Ther
, vol.22
, pp. 685-708
-
-
Kakuda, T.N.1
-
40
-
-
82755197808
-
Biochemical analysis of the G517V POLG variant reveals wild-type like activity
-
Kasiviswanathan R, Copeland WC. 2011. Biochemical analysis of the G517V POLG variant reveals wild-type like activity. Mitochondrion 11: 929-934.
-
(2011)
Mitochondrion
, vol.11
, pp. 929-934
-
-
Kasiviswanathan, R.1
Copeland, W.C.2
-
41
-
-
67749104713
-
Disease mutations in the human mitochondrial DNApolymerasethumbsubdomainimpartseveredefects in MtDNA replication
-
Kasiviswanathan R, Longley MJ, Chan SS, Copeland WC. 2009. Disease mutations in the human mitochondrial DNApolymerasethumbsubdomainimpartseveredefects in MtDNA replication. J Biol Chem 284: 19501-19510.
-
(2009)
J Biol Chem
, vol.284
, pp. 19501-19510
-
-
Kasiviswanathan, R.1
Longley, M.J.2
Chan, S.S.3
Copeland, W.C.4
-
42
-
-
22344456832
-
MitochondrialDNAmutations,oxidativestress, and apoptosis in mammalian aging
-
Kujoth GC, Hiona A, Pugh TD, Someya S, Panzer K, Wohlgemuth SE, Hofer T, Seo AY, Sullivan R, Jobling WA, etal.2005.MitochondrialDNAmutations,oxidativestress, and apoptosis in mammalian aging. Science 309: 481-484.
-
(2005)
Science
, vol.309
, pp. 481-484
-
-
Kujoth, G.C.1
Hiona, A.2
Pugh, T.D.3
Someya, S.4
Panzer, K.5
Wohlgemuth, S.E.6
Hofer, T.7
Seo, A.Y.8
Sullivan, R.9
Jobling, W.A.10
-
43
-
-
0036327184
-
Mutations of mitochondrial DNA polymerase {hooked} are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia
-
Lamantea E, Tiranti V, Bordoni A, Toscano A, Bono F, Servidei S, Papadimitriou A, Spelbrink H, Silvestri L, Casari G, et al. 2002. Mutations of mitochondrial DNA polymerase {hooked} are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. Ann Neurol 52: 211-219.
-
(2002)
Ann Neurol
, vol.52
, pp. 211-219
-
-
Lamantea, E.1
Tiranti, V.2
Bordoni, A.3
Toscano, A.4
Bono, F.5
Servidei, S.6
Papadimitriou, A.7
Spelbrink, H.8
Silvestri, L.9
Casari, G.10
-
44
-
-
0028884961
-
Overexpression of the RNR1 gene rescues Saccharomyces cerevisiae mutants in the mitochondrial DNA polymerase-encoding MIP1 gene
-
Lecrenier N, Foury F. 1995. Overexpression of the RNR1 gene rescues Saccharomyces cerevisiae mutants in the mitochondrial DNA polymerase-encoding MIP1 gene. Mol Gen Genet 249: 1-7.
-
(1995)
Mol Gen Genet
, vol.249
, pp. 1-7
-
-
Lecrenier, N.1
Foury, F.2
-
45
-
-
70349807756
-
Structural insight into processive human mitochondrial DNA synthesis and disease-related polymerase mutations
-
Lee YS, Kennedy WD, Yin YW. 2009. Structural insight into processive human mitochondrial DNA synthesis and disease-related polymerase mutations. Cell 139: 312-324.
-
(2009)
Cell
, vol.139
, pp. 312-324
-
-
Lee, Y.S.1
Kennedy, W.D.2
Yin, Y.W.3
-
46
-
-
74049134918
-
Eachmonomerofthedimericaccessory proteinfor humanmitochondrialDNApolymerasehasadistinctrole in conferring processivity
-
Lee YS, Lee S, Demeler B, Molineux IJ, Johnson KA, Yin YW. 2010a.Eachmonomerofthedimericaccessory proteinfor humanmitochondrialDNApolymerasehasadistinctrole in conferring processivity. J Biol Chem 285: 1490-1499.
-
(2010)
J Biol Chem
, vol.285
, pp. 1490-1499
-
-
Lee, Y.S.1
Lee, S.2
Demeler, B.3
Molineux, I.J.4
Johnson, K.A.5
Yin, Y.W.6
-
47
-
-
77956245940
-
A single mutation in human mitochondrial DNA polymerase pol {hooked} A affects both polymerization and proofreading activities, but only as a holoenzyme
-
Lee YS, Molineux IJ, Yin YW. 2010b. A single mutation in human mitochondrial DNA polymerase pol {hooked} A affects both polymerization and proofreading activities, but only as a holoenzyme. J Biol Chem 285: 28105-28116.
-
(2010)
J Biol Chem
, vol.285
, pp. 28105-28116
-
-
Lee, Y.S.1
Molineux, I.J.2
Yin, Y.W.3
-
48
-
-
33947537266
-
MtDNA depletion, oxidative stress, cardiomyopathy, and death from transgenic cardiac targeted human mutant polymerase {hooked}
-
Lewis W, Day BJ, Kohler JJ, Hosseini SH, Chan SSL, Green E, Haase CP, Keebaugh E, Long R, Ludaway T, et al. 2007. MtDNA depletion, oxidative stress, cardiomyopathy, and death from transgenic cardiac targeted human mutant polymerase {hooked}. Lab Invest 87: 326-335.
-
(2007)
Lab Invest
, vol.87
, pp. 326-335
-
-
Lewis, W.1
Day, B.J.2
Kohler, J.J.3
Hosseini, S.H.4
Chan, S.S.L.5
Green, E.6
Haase, C.P.7
Keebaugh, E.8
Long, R.9
Ludaway, T.10
-
49
-
-
0033621374
-
The mitochondrial p55 accessory subunit of human DNA polymerase {hooked} enhances DNA binding, promotes processive DNA synthesis, and confers N-ethylmaleimide resistance
-
Lim SE, Longley MJ, Copeland WC. 1999. The mitochondrial p55 accessory subunit of human DNA polymerase {hooked} enhances DNA binding, promotes processive DNA synthesis, and confers N-ethylmaleimide resistance. J Biol Chem 274: 38197-38203.
-
(1999)
J Biol Chem
, vol.274
, pp. 38197-38203
-
-
Lim, S.E.1
Longley, M.J.2
Copeland, W.C.3
-
51
-
-
0032555281
-
Characterization of the native and recombinant catalytic subunit of human DNA polymerase {hooked}: Identification of residues critical for exonuclease activity and dideoxynucleotide sensitivity
-
Longley MJ, Ropp PA, Lim SE, Copeland WC. 1998b. Characterization of the native and recombinant catalytic subunit of human DNA polymerase {hooked}: Identification of residues critical for exonuclease activity and dideoxynucleotide sensitivity. Biochemistry 37: 10529-10539.
-
(1998)
Biochemistry
, vol.37
, pp. 10529-10539
-
-
Longley, M.J.1
Ropp, P.A.2
Lim, S.E.3
Copeland, W.C.4
-
53
-
-
77956912166
-
Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis and helicase activity
-
Longley MJ, Humble MM, Sharief FS, Copeland WC. 2010. Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis and helicase activity. J Biol Chem 285: 29690-29702.
-
(2010)
J Biol Chem
, vol.285
, pp. 29690-29702
-
-
Longley, M.J.1
Humble, M.M.2
Sharief, F.S.3
Copeland, W.C.4
-
54
-
-
4544273256
-
Parkinsonism, premature menopause, and mitochondrial DNA polymerase {hooked} mutations: Clinical and molecular genetic study
-
Luoma P, Melberg A, Rinne JO, Kaukonen JA, Nupponen NN, Chalmers RM, Oldfors PA, Rautakorpi I, Peltonen PL, Majamaa PK, et al. 2004. Parkinsonism, premature menopause, and mitochondrial DNA polymerase {hooked} mutations: Clinical and molecular genetic study. Lancet 364: 875-882.
-
(2004)
Lancet
, vol.364
, pp. 875-882
-
-
Luoma, P.1
Melberg, A.2
Rinne, J.O.3
Kaukonen, J.A.4
Nupponen, N.N.5
Chalmers, R.M.6
Oldfors, P.A.7
Rautakorpi, I.8
Peltonen, P.L.9
Majamaa, P.K.10
-
55
-
-
23944456723
-
Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome
-
Luoma PT, Luo N, Loscher WN, Farr CL, Horvath R, Wanschitz J, Kiechl S, Kaguni LS, Suomalainen A. 2005. Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome. Hum Mol Genet 14: 1907- 1920.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 1907-1920
-
-
Luoma, P.T.1
Luo, N.2
Loscher, W.N.3
Farr, C.L.4
Horvath, R.5
Wanschitz, J.6
Kiechl, S.7
Kaguni, L.S.8
Suomalainen, A.9
-
56
-
-
48549101970
-
Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations
-
Milone M, Brunetti-Pierri N, Tang LY, Kumar N, Mezei MM, Josephs K, Powell S, Simpson E, Wong LJ. 2008. Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations. Neuromuscul Disord 18: 626-632.
-
(2008)
Neuromuscul Disord
, vol.18
, pp. 626-632
-
-
Milone, M.1
Brunetti-Pierri, N.2
Tang, L.Y.3
Kumar, N.4
Mezei, M.M.5
Josephs, K.6
Powell, S.7
Simpson, E.8
Wong, L.J.9
-
57
-
-
2142705756
-
POLG Mutations associated with Alpers' syndrome and mitochondrial DNA depletion
-
Naviaux RK, Nguyen KV. 2004. POLG Mutations associated with Alpers' syndrome and mitochondrial DNA depletion. Ann Neurol 55: 706-712.
-
(2004)
Ann Neurol
, vol.55
, pp. 706-712
-
-
Naviaux, R.K.1
Nguyen, K.V.2
-
58
-
-
0032900339
-
Mitochondrial DNA polymerase {hooked} deficiency and mtDNA depletion in a child with Alpers' syndrome
-
Naviaux RK, Nyhan WL, Barshop BA, Poulton J, Markusic D, Karpinski NC, Haas RH. 1999. Mitochondrial DNA polymerase {hooked} deficiency and mtDNA depletion in a child with Alpers' syndrome. Ann Neurol 45: 54-58.
-
(1999)
Ann Neurol
, vol.145
, pp. 54-58
-
-
Naviaux, R.K.1
Nyhan, W.L.2
Barshop, B.A.3
Poulton, J.4
Markusic, D.5
Karpinski, N.C.6
Haas, R.H.7
-
59
-
-
33746891876
-
Molecular diagnosis of Alpers syndrome
-
Nguyen KV, Sharief F, Chan SSL, Copeland WC, Naviaux RK. 2006. Molecular diagnosis of Alpers syndrome. J Hepatology 45: 108-116.
-
(2006)
J Hepatology
, vol.45
, pp. 108-116
-
-
Nguyen, K.V.1
Sharief, F.2
Chan, S.S.L.3
Copeland, W.C.4
Naviaux, R.K.5
-
61
-
-
33749038700
-
Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase {hooked}
-
Pagnamenta AT, Taanman JW, Wilson CJ, Anderson NE, Marotta R, Duncan AJ, Bitner-Glindzicz M, Taylor RW, Laskowski A, Thorburn DR, et al. 2006. Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase {hooked}. Hum Reprod 21: 2467-2473.
-
(2006)
Hum Reprod
, vol.21
, pp. 2467-2473
-
-
Pagnamenta, A.T.1
Taanman, J.W.2
Wilson, C.J.3
Anderson, N.E.4
Marotta, R.5
Duncan, A.J.6
Bitner-Glindzicz, M.7
Taylor, R.W.8
Laskowski, A.9
Thorburn, D.R.10
-
62
-
-
0037013234
-
Active site mutation in DNA polymerase {hooked} associated with progressive external ophthalmoplegia causes error-prone DNA synthesis
-
Ponamarev MV, Longley MJ, Nguyen D, Kunkel TA, Copeland WC. 2002. Active site mutation in DNA polymerase {hooked} associated with progressive external ophthalmoplegia causes error-prone DNA synthesis. J Biol Chem 277: 15225-15228.
-
(2002)
J Biol Chem
, vol.277
, pp. 15225-15228
-
-
Ponamarev, M.V.1
Longley, M.J.2
Nguyen, D.3
Kunkel, T.A.4
Copeland, W.C.5
-
63
-
-
79952753140
-
Endurance exercise rescues progeroid aging and induces systemic mitochondrial rejuvenation in mtDNA mutator mice
-
Safdar A, Bourgeois JM, Ogborn DI, Little JP, Hettinga BP, Akhtar M, Thompson JE, Melov S, Mocellin NJ, Kujoth GC, et al. 2011. Endurance exercise rescues progeroid aging and induces systemic mitochondrial rejuvenation in mtDNA mutator mice. Proc Natl Acad Sci 108: 4135- 4140.
-
(2011)
Proc Natl Acad Sci
, vol.108
, pp. 4135-4140
-
-
Safdar, A.1
Bourgeois, J.M.2
Ogborn, D.I.3
Little, J.P.4
Hettinga, B.P.5
Akhtar, M.6
Thompson, J.E.7
Melov, S.8
Mocellin, N.J.9
Kujoth, G.C.10
-
64
-
-
77956251381
-
Polymerase {hooked} disease through the ages
-
Saneto RP, Naviaux RK. 2010. Polymerase {hooked} disease through the ages. Dev Disabil Res Rev 16: 163-174.
-
(2010)
Dev Disabil Res Rev
, vol.16
, pp. 163-174
-
-
Saneto, R.P.1
Naviaux, R.K.2
-
65
-
-
77649188407
-
POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders
-
SanetoRP, Lee IC, Koenig MK,Bao X,Weng SW, Naviaux RK, Wong LJ. 2010. POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders. Seizure 19: 140-146.
-
(2010)
Seizure
, vol.19
, pp. 140-146
-
-
Saneto, R.P.1
Lee, I.C.2
Koenig, M.K.3
Bao, X.4
Weng, S.W.5
Naviaux, R.K.6
Wong, L.J.7
-
66
-
-
34247150665
-
Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood
-
e531-536
-
Sarzi E, Bourdon A, Chretien D, Zarhrate M, Corcos J, Slama A, Cormier-Daire V, de Lonlay P, Munnich A, Rotig A. 2007. Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood. J Pediatr 150: 531-534, e531-536.
-
(2007)
J Pediatr
, vol.150
-
-
Sarzi, E.1
Bourdon, A.2
Chretien, D.3
Zarhrate, M.4
Corcos, J.5
Slama, A.6
Cormier-Daire, V.7
de Lonlay, P.8
Munnich, A.9
Rotig, A.10
-
67
-
-
79957829839
-
α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging
-
Shrader WD, Amagata A, Barnes A, Enns GM, Hinman A, Jankowski O, Kheifets V, Komatsuzaki R, Lee E, Mollard P, et al. 2011. α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging. Bioorg Med Chem Lett 21: 3693-3698.
-
(2011)
Bioorg Med Chem Lett
, vol.21
, pp. 3693
-
-
Shrader, W.D.1
Amagata, A.2
Barnes, A.3
Enns, G.M.4
Hinman, A.5
Jankowski, O.6
Kheifets, V.7
Komatsuzaki, R.8
Lee, E.9
Mollard, P.10
-
68
-
-
31144476302
-
Mitochondrial DNA defects in S.cerevisiae with mutations in DNA polymerase {hooked} associated with progressive external ophthalmolplegia
-
Stuart GR, Santos JH, Strand MK, Van Houten B, Copeland WC. 2006. Mitochondrial DNA defects in S. cerevisiae with mutations in DNA polymerase {hooked} associated with progressive external ophthalmolplegia. Hum Mol Genet 15: 363-374.
-
(2006)
Hum Mol Genet
, vol.15
, pp. 363-374
-
-
Stuart, G.R.1
Santos, J.H.2
Strand, M.K.3
van Houten, B.4
Copeland, W.C.5
-
69
-
-
78651369034
-
Mitochondrial DNA replication and disease: Insights from DNA polymerase {hooked} mutations
-
Stumpf JD, Copeland WC. 2011. Mitochondrial DNA replication and disease: Insights from DNA polymerase {hooked} mutations. Cell Mol Life Sci 68: 219-233.
-
(2011)
Cell Mol Life Sci
, vol.68
, pp. 219-233
-
-
Stumpf, J.D.1
Copeland, W.C.2
-
70
-
-
77953499335
-
mip1 Containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae
-
Stumpf JD, Bailey CM, Spell D, Stillwagon M, Anderson KS, Copeland WC. 2010. mip1 Containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae. Hum Mol Genet 19: 2123-2133.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 2123
-
-
Stumpf, J.D.1
Bailey, C.M.2
Spell, D.3
Stillwagon, M.4
Anderson, K.S.5
Copeland, W.C.6
-
71
-
-
77956123004
-
' exonuclease domain of DNA polymerase {hooked} defines a novel module coupling DNA synthesis and degradation
-
' exonuclease domain of DNA polymerase {hooked} defines a novel module coupling DNA synthesis and degradation. Hum Mol Genet 19: 3516-3529.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 3516-3529
-
-
Szczepanowska, K.1
Foury, F.2
-
72
-
-
80955158521
-
Mitochondrial DNA polymerase {hooked} mutations: An ever expanding molecular and clinical spectrum
-
Tang S, Wang J, Lee NC, Milone M, Halberg MC, Schmitt ES, Craigen WJ, Zhang W, Wong LJ. 2011. Mitochondrial DNA polymerase {hooked} mutations: An ever expanding molecular and clinical spectrum. J Med Genet 48: 669-681.
-
(2011)
J Med Genet
, vol.48
, pp. 669-681
-
-
Tang, S.1
Wang, J.2
Lee, N.C.3
Milone, M.4
Halberg, M.C.5
Schmitt, E.S.6
Craigen, W.J.7
Zhang, W.8
Wong, L.J.9
-
73
-
-
2642580016
-
Premature ageing in mice expressing defective mitochondrial DNA polymerase
-
Trifunovic A, Wredenberg A, Falkenberg M, Spelbrink JN, Rovio AT, Bruder CE, Bohlooly YM, Gidlof S, Oldfors A, Wibom R, et al. 2004. Premature ageing in mice expressing defective mitochondrial DNA polymerase. Nature 429: 417-423.
-
(2004)
Nature
, vol.429
, pp. 417-423
-
-
Trifunovic, A.1
Wredenberg, A.2
Falkenberg, M.3
Spelbrink, J.N.4
Rovio, A.T.5
Bruder, C.E.6
Bohlooly, Y.M.7
Gidlof, S.8
Oldfors, A.9
Wibom, R.10
-
74
-
-
29144458899
-
Somatic mtDNA mutations cause aging phenotypes without affecting reactive oxygen species production
-
Trifunovic A, Hansson A, Wredenberg A, Rovio AT, Dufour E, Khvorostov I, Spelbrink JN, Wibom R, Jacobs HT, Larsson NG. 2005. Somatic mtDNA mutations cause aging phenotypes without affecting reactive oxygen species production. Proc Natl Acad Sci 102: 17993-17998.
-
(2005)
Proc Natl Acad Sci
, vol.102
, pp. 17993-17998
-
-
Trifunovic, A.1
Hansson, A.2
Wredenberg, A.3
Rovio, A.T.4
Dufour, E.5
Khvorostov, I.6
Spelbrink, J.N.7
Wibom, R.8
Jacobs, H.T.9
Larsson, N.G.10
-
75
-
-
0025785934
-
EEG findings in children and adolescents with mitochondrial encephalomyopathies: A study of 25 cases
-
Tulinius MH, Hagne I. 1991. EEG findings in children and adolescents with mitochondrial encephalomyopathies: A study of 25 cases. Brain Dev 13: 167-173.
-
(1991)
Brain Dev
, vol.13
, pp. 167-173
-
-
Tulinius, M.H.1
Hagne, I.2
-
76
-
-
33745685519
-
The spectrum of clinical disease caused by the A467Tand W748S POLG mutations: A study of 26 cases
-
Tzoulis C, Engelsen BA, Telstad W, Aasly J, Zeviani M, Winterthun S, Ferrari G, Aarseth JH, Bindoff LA. 2006. The spectrum of clinical disease caused by the A467Tand W748S POLG mutations: A study of 26 cases. Brain 129: 1685-1692.
-
(2006)
Brain
, vol.129
, pp. 1685-1692
-
-
Tzoulis, C.1
Engelsen, B.A.2
Telstad, W.3
Aasly, J.4
Zeviani, M.5
Winterthun, S.6
Ferrari, G.7
Aarseth, J.H.8
Bindoff, L.A.9
-
77
-
-
44849107452
-
Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus
-
Uusimaa J, Hinttala R, Rantala H, Paivarinta M, Herva R, Roytta M, Soini H, Moilanen JS, Remes AM, Hassinen IE, et al. 2008. Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus. Epilepsia 49: 1038-1045.
-
(2008)
Epilepsia
, vol.49
, pp. 1038-1045
-
-
Uusimaa, J.1
Hinttala, R.2
Rantala, H.3
Paivarinta, M.4
Herva, R.5
Roytta, M.6
Soini, H.7
Moilanen, J.S.8
Remes, A.M.9
Hassinen, I.E.10
-
78
-
-
0034943967
-
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
-
Van Goethem G, Dermaut B, Lofgren A, Martin JJ, Van Broeckhoven C. 2001. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nature Genet 28: 211-212.
-
(2001)
Nature Genet
, vol.28
, pp. 211-212
-
-
van Goethem, G.1
Dermaut, B.2
Lofgren, A.3
Martin, J.J.4
van Broeckhoven, C.5
-
79
-
-
0037306061
-
Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia
-
Van Goethem G, Martin JJ, Dermaut B, Lofgren A, Wibail A, Ververken D, Tack P, Dehaene I, Van Zandijcke M, Moonen M, et al. 2003a. Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. Neuromuscul Disord 13: 133-142.
-
(2003)
Neuromuscul Disord
, vol.13
, pp. 133-142
-
-
van Goethem, G.1
Martin, J.J.2
Dermaut, B.3
Lofgren, A.4
Wibail, A.5
Ververken, D.6
Tack, P.7
Dehaene, I.8
van Zandijcke, M.9
Moonen, M.10
-
80
-
-
0347994917
-
Patient homozygous for a recessive POLG mutation presents with features of MERRF
-
Van Goethem G, Mercelis R, Lofgren A, Seneca S, Ceuterick C, Martin JJ, Van Broeckhoven C. 2003b. Patient homozygous for a recessive POLG mutation presents with features of MERRF. Neurology 61: 1811-1813.
-
(2003)
Neurology
, vol.61
, pp. 1811-1813
-
-
van Goethem, G.1
Mercelis, R.2
Lofgren, A.3
Seneca, S.4
Ceuterick, C.5
Martin, J.J.6
van Broeckhoven, C.7
-
81
-
-
20844442462
-
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement
-
Van Goethem G, Luoma P, Rantamaki M, Al Memar A, Kaakkola S, Hackman P, Krahe R, Lofgren A, Martin JJ, De Jonghe P, et al. 2004. POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. Neurology 63: 1251-1257.
-
(2004)
Neurology
, vol.63
, pp. 1251-1257
-
-
van Goethem, G.1
Luoma, P.2
Rantamaki, M.3
Al Memar, A.4
Kaakkola, S.5
Hackman, P.6
Krahe, R.7
Lofgren, A.8
Martin, J.J.9
de Jonghe, P.10
-
82
-
-
34047116291
-
Mitochondrial point mutations do not limit the natural lifespan of mice
-
Vermulst M, Bielas JH, Kujoth GC, Ladiges WC, Rabinovitch PS, Prolla TA, Loeb LA. 2007. Mitochondrial point mutations do not limit the natural lifespan of mice. Nature Genet 39: 540-543.
-
(2007)
Nature Genet
, vol.39
, pp. 540-543
-
-
Vermulst, M.1
Bielas, J.H.2
Kujoth, G.C.3
Ladiges, W.C.4
Rabinovitch, P.S.5
Prolla, T.A.6
Loeb, L.A.7
-
83
-
-
41349087783
-
DNA deletions and clonal mutations drive premature aging in mitochondrial mutator mice
-
Vermulst M, Wanagat J, Kujoth GC, Bielas JH, Rabinovitch PS, Prolla TA, Loeb LA. 2008. DNA deletions and clonal mutations drive premature aging in mitochondrial mutator mice. Nature Genet 40: 392-394.
-
(2008)
Nature Genet
, vol.40
, pp. 392-394
-
-
Vermulst, M.1
Wanagat, J.2
Kujoth, G.C.3
Bielas, J.H.4
Rabinovitch, P.S.5
Prolla, T.A.6
Loeb, L.A.7
-
84
-
-
70450121949
-
On mitochondria, mutations, and methodology
-
Vermulst M, Wanagat J, Loeb LA. 2009. On mitochondria, mutations, and methodology. Cell Metab 10: 437.
-
(2009)
Cell Metab
, vol.10
, pp. 437
-
-
Vermulst, M.1
Wanagat, J.2
Loeb, L.A.3
-
85
-
-
77957346278
-
Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2
-
Walter MC, Czermin B, Muller-Ziermann S, Bulst S, Stewart JD, Hudson G, Schneiderat P, Abicht A, Holinski-Feder E, Lochmuller H, et al. 2010. Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2. J Neurol 257: 1517-1523.
-
(2010)
J Neurol
, vol.257
, pp. 1517-1523
-
-
Walter, M.C.1
Czermin, B.2
Muller-Ziermann, S.3
Bulst, S.4
Stewart, J.D.5
Hudson, G.6
Schneiderat, P.7
Abicht, A.8
Holinski-Feder, E.9
Lochmuller, H.10
-
86
-
-
78649499624
-
The mtDNA mutation spectrum of the progeroid Polg mutator mouse includes abundant control region multimers
-
Williams SL, Huang J, Edwards YJ, Ulloa RH, Dillon LM, Prolla TA, Vance JM, Moraes CT, Zuchner S. 2010. The mtDNA mutation spectrum of the progeroid Polg mutator mouse includes abundant control region multimers. Cell Metab 12: 675-682.
-
(2010)
Cell Metab
, vol.12
, pp. 675-682
-
-
Williams, S.L.1
Huang, J.2
Edwards, Y.J.3
Ulloa, R.H.4
Dillon, L.M.5
Prolla, T.A.6
Vance, J.M.7
Moraes, C.T.8
Zuchner, S.9
-
87
-
-
16844382687
-
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase {hooked} mutations
-
Winterthun S, Ferrari G, He L, Taylor RW, Zeviani M, Turnbull DM, Engelsen BA, Moen G, Bindoff LA. 2005. Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase {hooked} mutations. Neurology 64: 1204-1208.
-
(2005)
Neurology
, vol.64
, pp. 1204-1208
-
-
Winterthun, S.1
Ferrari, G.2
He, L.3
Taylor, R.W.4
Zeviani, M.5
Turnbull, D.M.6
Engelsen, B.A.7
Moen, G.8
Bindoff, L.A.9
-
88
-
-
66849089743
-
Status epilepticus in children with Alpers' disease caused by POLG1 mutations: EEG and MRI features
-
Wolf NI, Rahman S, Schmitt B, Taanman JW, Duncan AJ, Harting I, Wohlrab G, Ebinger F, Rating D, Bast T. 2009. Status epilepticus in children with Alpers' disease caused by POLG1 mutations: EEG and MRI features. Epilepsia 50: 1596-1607.
-
(2009)
Epilepsia
, vol.50
, pp. 1596-1607
-
-
Wolf, N.I.1
Rahman, S.2
Schmitt, B.3
Taanman, J.W.4
Duncan, A.J.5
Harting, I.6
Wohlrab, G.7
Ebinger, F.8
Rating, D.9
Bast, T.10
-
89
-
-
57849140614
-
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations
-
Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, et al. 2008. Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Hum Mutat 29: E150-172.
-
(2008)
Hum Mutat
, vol.29
-
-
Wong, L.J.1
Naviaux, R.K.2
Brunetti-Pierri, N.3
Zhang, Q.4
Schmitt, E.S.5
Truong, C.6
Milone, M.7
Cohen, B.H.8
Wical, B.9
Ganesh, J.10
-
90
-
-
34248212745
-
Novel mutation of human DNA polymerase {hooked} associated with mitochondrial toxicity induced by anti-HIV treatment
-
Yamanaka H, Gatanaga H, Kosalaraksa P, Matsuoka-Aizawa S, Takahashi T, Kimura S, Oka S. 2007. Novel mutation of human DNA polymerase {hooked} associated with mitochondrial toxicity induced by anti-HIV treatment. J Infect Dis 195: 1419-1425.
-
(2007)
J Infect Dis
, vol.195
, pp. 1419-1425
-
-
Yamanaka, H.1
Gatanaga, H.2
Kosalaraksa, P.3
Matsuoka-Aizawa, S.4
Takahashi, T.5
Kimura, S.6
Oka, S.7
-
91
-
-
0034667349
-
Construction of transgenic mice with tissue-specific acceleration of mitochondrial DNA mutagenesis
-
Zhang D, Mott JL, Chang SW, Denniger G, Feng Z, Zassenhaus HP. 2000. Construction of transgenic mice with tissue-specific acceleration of mitochondrial DNA mutagenesis. Genomics 69: 151-161.
-
(2000)
Genomics
, vol.69
, pp. 151-161
-
-
Zhang, D.1
Mott, J.L.2
Chang, S.W.3
Denniger, G.4
Feng, Z.5
Zassenhaus, H.P.6
|