메뉴 건너뛰기




Volumn 16, Issue 8, 2015, Pages 18054-18076

Genes and pathways involved in adult onset disorders featuring muscle mitochondrial DNA instability

Author keywords

Adult mitochondrial disorders; Mitochondrial myopathy; mtDNA maintenance; Multiple mtDNA deletions; Progressive external ophthalmoplegia

Indexed keywords

DEOXYGUANOSINE KINASE; MITOCHONDRIAL DNA; THYMIDINE PHOSPHORYLASE;

EID: 84938827362     PISSN: 16616596     EISSN: 14220067     Source Type: Journal    
DOI: 10.3390/ijms160818054     Document Type: Review
Times cited : (23)

References (117)
  • 1
    • 84860840558 scopus 로고    scopus 로고
    • Mitochondrial diseases
    • Schapira, A.H. Mitochondrial diseases. Lancet 2012, 379, 1825-1834.
    • (2012) Lancet , vol.379 , pp. 1825-1834
    • Schapira, A.H.1
  • 5
    • 14644402355 scopus 로고    scopus 로고
    • Mitochondrial DNA analysis in clinical laboratory diagnostics
    • Wong, L.J.; Boles, R.G. Mitochondrial DNA analysis in clinical laboratory diagnostics. Clin. Chim. Acta 2005, 354, 1-20.
    • (2005) Clin. Chim. Acta , vol.354 , pp. 1-20
    • Wong, L.J.1    Boles, R.G.2
  • 6
    • 0026532722 scopus 로고
    • Multiple mitochondrial DNA deletions in an elderly human individual
    • Zhang, C.; Baumer, A.; Maxwell, R.J.; Linnane, A.W.; Nagley, P. Multiple mitochondrial DNA deletions in an elderly human individual. FEBS 1992, 297, 34-38.
    • (1992) FEBS , vol.297 , pp. 34-38
    • Zhang, C.1    Baumer, A.2    Maxwell, R.J.3    Linnane, A.W.4    Nagley, P.5
  • 9
    • 84883244776 scopus 로고    scopus 로고
    • Mitochondrial depletion syndromes in children and adults
    • Finsterer, J.; Ahting, U. Mitochondrial depletion syndromes in children and adults. Can. J. Neurol. Sci. 2013, 40, 635-644.
    • (2013) Can. J. Neurol. Sci , vol.40 , pp. 635-644
    • Finsterer, J.1    Ahting, U.2
  • 10
    • 84938835467 scopus 로고    scopus 로고
    • (accessed on 3 May 2011)
    • Mitochondrial DNA Deletion Syndromes. Available online: http://www.ncbi.nlm.nih.gov/books/ NBK1203/PubMed PMID: 20301382 (accessed on 3 May 2011).
    • Mitochondrial DNA Deletion Syndromes
  • 11
    • 77950350844 scopus 로고    scopus 로고
    • Mitochondrial diseases: A cross-talk between mitochondrial and nuclear genomes
    • Spinazzola, A.; Zeviani, M. Mitochondrial diseases: A cross-talk between mitochondrial and nuclear genomes. Adv. Exp. Med. Biol. 2009, 652, 69-84.
    • (2009) Adv. Exp. Med. Biol , vol.652 , pp. 69-84
    • Spinazzola, A.1    Zeviani, M.2
  • 12
    • 0034943967 scopus 로고    scopus 로고
    • Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
    • Van Goethem, G.; Dermaut, B.; Löfgren, A.; Martin, J.J.; van Broeckhoven, C. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat. Genet. 2001, 28, 211-212.
    • (2001) Nat. Genet , vol.28 , pp. 211-212
    • Van Goethem, G.1    Dermaut, B.2    Löfgren, A.3    Martin, J.J.4    van Broeckhoven, C.5
  • 14
    • 0034938364 scopus 로고    scopus 로고
    • Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
    • Spelbrink, J.N.; Li, F.Y.; Tiranti, V.; Nikali, K.; Yuan, Q.P.; Tariq, M.; Wanrooij, S.; Garrido, N.; Comi, G.; Morandi, L.; et al. Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat. Genet. 2001, 28, 223-231.
    • (2001) Nat. Genet , vol.28 , pp. 223-231
    • Spelbrink, J.N.1    Li, F.Y.2    Tiranti, V.3    Nikali, K.4    Yuan, Q.P.5    Tariq, M.6    Wanrooij, S.7    Garrido, N.8    Comi, G.9    Morandi, L.10
  • 18
    • 0035179561 scopus 로고    scopus 로고
    • Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
    • Saada, A.; Shaag, A.; Mandel, H.; Nevo, Y.; Eriksson, S.; Elpeleg, O. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat. Genet. 2001, 29, 342-344.
    • (2001) Nat. Genet , vol.29 , pp. 342-344
    • Saada, A.1    Shaag, A.2    Mandel, H.3    Nevo, Y.4    Eriksson, S.5    Elpeleg, O.6
  • 19
    • 0035183256 scopus 로고    scopus 로고
    • The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA
    • Erratum in: Nat. Genet. 29 December 2001
    • Mandel, H.; Szargel, R.; Labay, V.; Elpeleg, O.; Saada, A.; Shalata, A.; Anbinder, Y.; Berkowitz, D.; Hartman, C.; Barak, M.; et al. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat. Genet. 2001, 29, 337-341, Erratum in: Nat. Genet. 29 December 2001.
    • (2001) Nat. Genet , vol.29 , pp. 337-341
    • Mandel, H.1    Szargel, R.2    Labay, V.3    Elpeleg, O.4    Saada, A.5    Shalata, A.6    Anbinder, Y.7    Berkowitz, D.8    Hartman, C.9    Barak, M.10
  • 22
    • 34547736513 scopus 로고    scopus 로고
    • Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion
    • Ostergaard, E.; Christensen, E.; Kristensen, E.; Mogensen, B.; Duno, M.; Shoubridge E.A.; Wibrand, F. Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion. Am. J. Hum. Genet. 2007, 81, 383-387.
    • (2007) Am. J. Hum. Genet , vol.81 , pp. 383-387
    • Ostergaard, E.1    Christensen, E.2    Kristensen, E.3    Mogensen, B.4    Duno, M.5    Shoubridge, E.A.6    Wibrand, F.7
  • 29
    • 0038183839 scopus 로고    scopus 로고
    • mtDNA depletion myopathy: Elucidation of the tissue specificity in the mitochondrial thymidine kinase (TK2) deficiency
    • Saada, A.; Shaag, A.; Elpeleg, O. mtDNA depletion myopathy: Elucidation of the tissue specificity in the mitochondrial thymidine kinase (TK2) deficiency. Mol. Genet. Metab. 2003, 79, 1-5.
    • (2003) Mol. Genet. Metab , vol.79 , pp. 1-5
    • Saada, A.1    Shaag, A.2    Elpeleg, O.3
  • 38
    • 77953811054 scopus 로고    scopus 로고
    • The human mitochondrial replication fork in health and disease
    • Wanrooij, S.; Falkenberg, M. The human mitochondrial replication fork in health and disease. Biochim. Biophys. Acta 2010, 1797, 1378-1388.
    • (2010) Biochim. Biophys. Acta , vol.1797 , pp. 1378-1388
    • Wanrooij, S.1    Falkenberg, M.2
  • 40
    • 3543039417 scopus 로고    scopus 로고
    • Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia
    • Graziewicz, M.A.; Longley, M.J.; Bienstock, R.J.; Zeviani, M.; Copeland, W.C. Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia. Nat. Struct. Mol. Biol. 2004, 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
  • 43
    • 0042326378 scopus 로고    scopus 로고
    • Progressive External Ophtalmoplegia characterized by multiple deletions of mitochondrial DNA
    • Van Goethem, G.; Martin, J.J.; van Broeckhoven, C. Progressive External Ophtalmoplegia characterized by multiple deletions of mitochondrial DNA. Neuromol. Med. 2003, 3, 129-146.
    • (2003) Neuromol. Med , vol.3 , pp. 129-146
    • Van Goethem, G.1    Martin, J.J.2    van Broeckhoven, C.3
  • 45
    • 85027934139 scopus 로고    scopus 로고
    • Characterizing POLG ataxia: Clinics, electrophysiology and imaging
    • Synofzik, M.; Srulijes, K.; Godau, J.; Berg, D.; Schöls, L. Characterizing POLG ataxia: Clinics, electrophysiology and imaging. Cerebellum 2012, 11, 1002-1011.
    • (2012) Cerebellum , vol.11 , pp. 1002-1011
    • Synofzik, M.1    Srulijes, K.2    Godau, J.3    Berg, D.4    Schöls, L.5
  • 46
    • 3543017697 scopus 로고    scopus 로고
    • A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism
    • Mancuso, M.; Filosto, M.; Oh, S.J.; di Mauro, S. A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism. Arch. Neurol. 2004, 61, 1777-1779.
    • (2004) Arch. Neurol , vol.61 , pp. 1777-1779
    • Mancuso, M.1    Filosto, M.2    Oh, S.J.3    di Mauro, S.4
  • 51
    • 31144476302 scopus 로고    scopus 로고
    • Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia
    • Stuart, G.R.; Santos, J.H.; Strand, M.K.; van Houten, B.; Copeland, W.C. Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia. Hum. Mol. Genet. 2006, 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
  • 52
    • 77953499335 scopus 로고    scopus 로고
    • mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae
    • Stumpf, J.D.; Bailey, C.M.; Spell, D.; Stillwagon, M.; Anderson, K.S.; Copeland, W.C. mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae. Hum. Mol. Genet. 2010, 19, 2123-2133.
    • (2010) Hum. Mol. Genet , vol.19 , pp. 2123-2133
    • Stumpf, J.D.1    Bailey, C.M.2    Spell, D.3    Stillwagon, M.4    Anderson, K.S.5    Copeland, W.C.6
  • 57
    • 84877056321 scopus 로고    scopus 로고
    • TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication
    • Milenkovic, D.; Matic, S.; Kühl, I.; Ruzzenente, B.; Freyer, C.; Jemt, E.; Park, C.B.; Falkenberg, M.; Larsson, N.G. TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication. Hum. Mol. Genet. 2013, 22, 1983-1993.
    • (2013) Hum. Mol. Genet , vol.22 , pp. 1983-1993
    • Milenkovic, D.1    Matic, S.2    Kühl, I.3    Ruzzenente, B.4    Freyer, C.5    Jemt, E.6    Park, C.B.7    Falkenberg, M.8    Larsson, N.G.9
  • 61
    • 34447249263 scopus 로고    scopus 로고
    • Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle
    • Baloh, R.H.; Salavaggione, E.; Milbrandt, J.; Pestronk, A. Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle. Arch. Neurol. 2007, 64, 998-1000.
    • (2007) Arch. Neurol , vol.64 , pp. 998-1000
    • Baloh, R.H.1    Salavaggione, E.2    Milbrandt, J.3    Pestronk, A.4
  • 62
    • 84887162695 scopus 로고    scopus 로고
    • Twinkle mutation in an Italian family with external progressive ophthalmoplegia and parkinsonism: A case report and an update on the state of art
    • Kiferle, L.; Orsucci, D.; Mancuso, M.; Lo Gerfo, A.; Petrozzi, L.; Siciliano, G.; Ceravolo, R.; Bonuccelli, U. Twinkle mutation in an Italian family with external progressive ophthalmoplegia and parkinsonism: A case report and an update on the state of art. Neurosci. Lett. 2013, 27, 1-4.
    • (2013) Neurosci. Lett , vol.27 , pp. 1-4
    • Kiferle, L.1    Orsucci, D.2    Mancuso, M.3    Lo Gerfo, A.4    Petrozzi, L.5    Siciliano, G.6    Ceravolo, R.7    Bonuccelli, U.8
  • 63
    • 27544440060 scopus 로고    scopus 로고
    • Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky
    • Nikali, K.; Suomalainen, A.; Saharinen, J.; Kuokkanen, M.; Spelbrink, J.N.; Lönnqvist, T.; Peltonen, L. Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. Hum. Mol. Genet. 2005, 14, 2981-2990.
    • (2005) Hum. Mol. Genet , vol.14 , pp. 2981-2990
    • Nikali, K.1    Suomalainen, A.2    Saharinen, J.3    Kuokkanen, M.4    Spelbrink, J.N.5    Lönnqvist, T.6    Peltonen, L.7
  • 65
    • 84897727564 scopus 로고    scopus 로고
    • Mitochondrial DNA damage patterns and aging: Revising the evidences for humans and mice
    • Kazachkova, N.; Ramos, A.; Santos, C.; Lima, M. Mitochondrial DNA damage patterns and aging: Revising the evidences for humans and mice. Aging Dis. 2013, 4, 337-350.
    • (2013) Aging Dis , vol.4 , pp. 337-350
    • Kazachkova, N.1    Ramos, A.2    Santos, C.3    Lima, M.4
  • 66
  • 67
    • 84938213781 scopus 로고    scopus 로고
    • The role of DNA base excision repair in brain homeostasis and diseases
    • Akbari, M.; Morevati, M.; Croteau, D.; Bohr, V.A. The role of DNA base excision repair in brain homeostasis and diseases. DNA Repair 2015, doi:10.1016/j.dnarep.2015.04.029.
    • (2015) DNA Repair
    • Akbari, M.1    Morevati, M.2    Croteau, D.3    Bohr, V.A.4
  • 68
    • 84934965012 scopus 로고    scopus 로고
    • Base Excision Repair in mitochondria
    • Prakash, A.; Doublié, S. Base Excision Repair in mitochondria. J. Cell. Biochem. 2015, 116, 1490-1499.
    • (2015) J. Cell. Biochem , vol.116 , pp. 1490-1499
    • Prakash, A.1    Doublié, S.2
  • 69
    • 55049112210 scopus 로고    scopus 로고
    • Human DNA2 is a mitochondrial nuclease/helicase for efficient processing of DNA replication and repair intermediates
    • Zheng, L.; Zhou, M.; Guo, Z.; Lu, H.; Qian, L.; Dai, H.; Qiu, J.; Yakubovskaya, E.; Bogenhagen, D.F.; Demple, B.; et al. Human DNA2 is a mitochondrial nuclease/helicase for efficient processing of DNA replication and repair intermediates. Mol. Cell 2008, 32, 325-336.
    • (2008) Mol. Cell , vol.32 , pp. 325-336
    • Zheng, L.1    Zhou, M.2    Guo, Z.3    Lu, H.4    Qian, L.5    Dai, H.6    Qiu, J.7    Yakubovskaya, E.8    Bogenhagen, D.F.9    Demple, B.10
  • 71
    • 84864914304 scopus 로고    scopus 로고
    • Biochemical analyses indicate that binding and cleavage specificities define the ordered processing of human Okazaki fragments by DNA2 and FEN1
    • Gloor, J.W.; Balakrishnan, L.; Campbell, J.L.; Bambara, R.A. Biochemical analyses indicate that binding and cleavage specificities define the ordered processing of human Okazaki fragments by DNA2 and FEN1. Nucleic Acids Res. 2012, 40, 6774-6786.
    • (2012) Nucleic Acids Res , vol.40 , pp. 6774-6786
    • Gloor, J.W.1    Balakrishnan, L.2    Campbell, J.L.3    Bambara, R.A.4
  • 72
    • 77957786786 scopus 로고    scopus 로고
    • Saccharomyces cerevisiae Mre11/Rad50/Xrs2 and Ku proteins regulate association of Exo1 and DNA2 with DNA breaks
    • Shim, E.Y.; Chung, W.H.; Nicolette, M.L.; Zhang, Y.; Davis, M.; Zhu, Z.; Paull, T.T.; Ira, G.; Lee, S.E. Saccharomyces cerevisiae Mre11/Rad50/Xrs2 and Ku proteins regulate association of Exo1 and DNA2 with DNA breaks. EMBO J. 2010, 29, 3370-3380.
    • (2010) EMBO J , vol.29 , pp. 3370-3380
    • Shim, E.Y.1    Chung, W.H.2    Nicolette, M.L.3    Zhang, Y.4    Davis, M.5    Zhu, Z.6    Paull, T.T.7    Ira, G.8    Lee, S.E.9
  • 73
    • 84885626255 scopus 로고    scopus 로고
    • DNA2 is involved in CA strand resection and nascent lagging strand completion at native yeast telomeres
    • Budd, M.E.; Campbell, J.L. DNA2 is involved in CA strand resection and nascent lagging strand completion at native yeast telomeres. J. Biol. Chem. 2013, 288, 29414-29429.
    • (2013) J. Biol. Chem , vol.288 , pp. 29414-29429
    • Budd, M.E.1    Campbell, J.L.2
  • 74
    • 84929353033 scopus 로고    scopus 로고
    • Borrowing nuclear DNA helicases to protect mitochondrial DNA
    • Ding, L.; Liu, Y. Borrowing nuclear DNA helicases to protect mitochondrial DNA. Int. J. Mol. Sci. 2015, 16, 10870-10887.
    • (2015) Int. J. Mol. Sci , vol.16 , pp. 10870-10887
    • Ding, L.1    Liu, Y.2
  • 75
    • 84893674890 scopus 로고    scopus 로고
    • Genomic analysis of primordial dwarfism reveals novel disease genes
    • Shaheen, R.; Faqeih, E.; Ansari, S. Genomic analysis of primordial dwarfism reveals novel disease genes. Genome Res. 2014, 24, 291-299.
    • (2014) Genome Res , vol.24 , pp. 291-299
    • Shaheen, R.1    Faqeih, E.2    Ansari, S.3
  • 76
    • 84867287187 scopus 로고    scopus 로고
    • Sequence, structure and functional diversity of PD-(D/E)XK phosphodiesterase superfamily
    • Steczkiewicz, K.; Muszewska, A.; Knizewski, L.; Rychlewski, L.; Ginalski, K. Sequence, structure and functional diversity of PD-(D/E)XK phosphodiesterase superfamily. Nucleic Acids Res. 2012, 40, 7016-7045.
    • (2012) Nucleic Acids Res , vol.40 , pp. 7016-7045
    • Steczkiewicz, K.1    Muszewska, A.2    Knizewski, L.3    Rychlewski, L.4    Ginalski, K.5
  • 80
    • 0030951244 scopus 로고    scopus 로고
    • Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice
    • Jenuth, J.P.; Peterson, A.C.; Shoubridge, E.A. Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice. Nat. Genet. 1997, 16, 93-95.
    • (1997) Nat. Genet , vol.16 , pp. 93-95
    • Jenuth, J.P.1    Peterson, A.C.2    Shoubridge, E.A.3
  • 86
    • 84881494762 scopus 로고    scopus 로고
    • Adenine nucleotide translocase, mitochondrial stress, and degenerative cell death
    • Liu, Y.; Chen, X.J. Adenine nucleotide translocase, mitochondrial stress, and degenerative cell death. Oxid. Med. Cell. Longev. 2013, 2013, 146860, doi:10.1155/2013/146860.
    • (2013) Oxid. Med. Cell. Longev , vol.2013
    • Liu, Y.1    Chen, X.J.2
  • 88
    • 36048987978 scopus 로고    scopus 로고
    • Adenine nucleotide translocase in the focus of cardiovascular diseases
    • Dörner, A.; Schultheiss, H.P. Adenine nucleotide translocase in the focus of cardiovascular diseases. Trends Cardiovasc. Med. 2007, 17, 284-290.
    • (2007) Trends Cardiovasc. Med , vol.17 , pp. 284-290
    • Dörner, A.1    Schultheiss, H.P.2
  • 91
    • 68249118218 scopus 로고    scopus 로고
    • A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophtalmoplegia with multiple mtDNA deletions
    • Tyynismaa, H.; Ylikallio, E.; Patel, M.; Molnar, M.J.; Haller, R.G.; Suomalainen, A. A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophtalmoplegia with multiple mtDNA deletions. Am. J. Hum. Genet. 2009, 85, 290-295.
    • (2009) Am. J. Hum. Genet , vol.85 , pp. 290-295
    • Tyynismaa, H.1    Ylikallio, E.2    Patel, M.3    Molnar, M.J.4    Haller, R.G.5    Suomalainen, A.6
  • 94
    • 84910141948 scopus 로고    scopus 로고
    • Mitochondrial dynamics and inheritance during cell division, development and disease
    • Mishra, P.; Chan, D.C. Mitochondrial dynamics and inheritance during cell division, development and disease. Nat. Rev. Mol. Cell Biol. 2014, 15, 634-646.
    • (2014) Nat. Rev. Mol. Cell Biol , vol.15 , pp. 634-646
    • Mishra, P.1    Chan, D.C.2
  • 96
    • 84871739055 scopus 로고    scopus 로고
    • The dynamin GTPase OPA1, more than mitochondria?
    • Belenguer, P.; Pellegrini, L. The dynamin GTPase OPA1, more than mitochondria? Biochim. Biophys. Acta 2013, 1833, 176-183.
    • (2013) Biochim. Biophys. Acta , vol.1833 , pp. 176-183
    • Belenguer, P.1    Pellegrini, L.2
  • 97
    • 79953019314 scopus 로고    scopus 로고
    • The mitochondrial inner membrane GTPase, optic atrophy 1 (OPA1), restores mitochondrial morphology and promotes neuronal survival following excitotoxicity
    • Jahani-Asl, A.; Pilon-Larose, K.; Xu, W.; MacLaurin, J.G.; Park, D.S.; McBride, H.M.; Slack, R.S. The mitochondrial inner membrane GTPase, optic atrophy 1 (OPA1), restores mitochondrial morphology and promotes neuronal survival following excitotoxicity. J. Biol. Chem. 2011, 286, 4772-4782.
    • (2011) J. Biol. Chem , vol.286 , pp. 4772-4782
    • Jahani-Asl, A.1    Pilon-Larose, K.2    Xu, W.3    MacLaurin, J.G.4    Park, D.S.5    McBride, H.M.6    Slack, R.S.7
  • 101
    • 38849151612 scopus 로고    scopus 로고
    • Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: A novel disorder of mtDNA maintenance
    • Hudson, G.; Amati-Bonneau, P.; Blakely, E.L.; Stewart, J.D.; He, L.; Schaefer, A.M.; Griffiths, P.G.; Ahlqvist, K.; Suomalainen, A.; Reynier, P.; et al. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: A novel disorder of mtDNA maintenance. Brain 2008, 131, 329-337.
    • (2008) Brain , vol.131 , pp. 329-337
    • Hudson, G.1    Amati-Bonneau, P.2    Blakely, E.L.3    Stewart, J.D.4    He, L.5    Schaefer, A.M.6    Griffiths, P.G.7    Ahlqvist, K.8    Suomalainen, A.9    Reynier, P.10
  • 106
    • 84914703244 scopus 로고    scopus 로고
    • The role of Mpv17 protein mutations of which cause mitochondrial DNA depletion syndromes (MDDS): Lessons from homologs in different species
    • Löllgen, S.; Weiher, H. The role of Mpv17 protein mutations of which cause mitochondrial DNA depletion syndromes (MDDS): Lessons from homologs in different species. Biol. Chem. 2015, 396, 13-25.
    • (2015) Biol. Chem , vol.396 , pp. 13-25
    • Löllgen, S.1    Weiher, H.2
  • 107
    • 84930227334 scopus 로고    scopus 로고
    • The human mtDNA depletion syndrome gene MPV17 encodes a non-selective channel that modulates membrane potential
    • Antonenkov, V.D.; Isomursu, A.; Mennerich, D.; Vapola, M.H.; Weiher, H.; Kietzmann, T.; Hiltunen, J.K. The human mtDNA depletion syndrome gene MPV17 encodes a non-selective channel that modulates membrane potential. J. Biol. Chem. 2015, 290, 13840-13861.
    • (2015) J. Biol. Chem , vol.290 , pp. 13840-13861
    • Antonenkov, V.D.1    Isomursu, A.2    Mennerich, D.3    Vapola, M.H.4    Weiher, H.5    Kietzmann, T.6    Hiltunen, J.K.7
  • 109
    • 84871184173 scopus 로고    scopus 로고
    • MPV17 mutations causing adult-onset multisystemic disorder with multiple mitochondrial DNA deletions
    • Garone, C.; Rubio, J.C.; Calvo, S.E.; Naini, A.; Tanji, K.; di Mauro, S.; Mootha, V.K.; Hirano, M. MPV17 mutations causing adult-onset multisystemic disorder with multiple mitochondrial DNA deletions. Arch. Neurol. 2012, 69, 1649-1651.
    • (2012) Arch. Neurol , vol.69 , pp. 1649-1651
    • Garone, C.1    Rubio, J.C.2    Calvo, S.E.3    Naini, A.4    Tanji, K.5    di Mauro, S.6    Mootha, V.K.7    Hirano, M.8
  • 113
    • 81055133547 scopus 로고    scopus 로고
    • Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy
    • Garone, C.; Tadesse, S.; Hirano, M. Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. Brain 2011, 134, 3326-3332.
    • (2011) Brain , vol.134 , pp. 3326-3332
    • Garone, C.1    Tadesse, S.2    Hirano, M.3
  • 115
    • 84937764107 scopus 로고    scopus 로고
    • Mitochondrial dynamics and inherited peripheral nerve diseases
    • Pareyson, D.; Saveri, P.; Sagnelli, A.; Piscosquito, G. Mitochondrial dynamics and inherited peripheral nerve diseases. Neurosci. Lett. 2015, 596, 66-77.
    • (2015) Neurosci. Lett , vol.596 , pp. 66-77
    • Pareyson, D.1    Saveri, P.2    Sagnelli, A.3    Piscosquito, G.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.