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Volumn 9, Issue 12, 2014, Pages

MTO1-deficient mouse model mirrors the human phenotype showing complex I defect and cardiomyopathy

(27)  Becker, Lore a,b   Kling, Eva b   Schiller, Evelyn a,b   Zeh, Ramona a,b   Schrewe, Anja b,c   Hölter, Sabine M b   Mossbrugger, Ilona b   Calzada Wack, Julia b   Strecker, Valentina d   Wittig, Ilka d,k   Dumitru, Iulia e   Wenz, Tina e,k   Bender, Andreas a   Aichler, Michaela b   Janik, Dirk b   Neff, Frauke b   Walch, Axel b   Quintanilla Fend, Leticia b   Floss, Thomas b   Bekeredjian, Raffi b,c   more..


Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BRADYCARDIA; CARDIOMYOPATHY; COMPLEX I DEFICIENCY; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FEMALE; GENE; HEART ARRHYTHMIA; HEART MUSCLE INJURY; MALE; MOUSE; MTO1 GENE; MUTAGENESIS; NONHUMAN; PHENOTYPE; ANIMAL; C57BL MOUSE; DISEASE MODEL; GENE DOSAGE; GENE SILENCING; GENETICS; HEART; HEART MUSCLE; HUMAN; KNOCKOUT MOUSE; METABOLISM; MITOCHONDRIAL GENE; MITOCHONDRION; OXIDATIVE PHOSPHORYLATION; PATHOLOGY; PATHOPHYSIOLOGY;

EID: 84918553327     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0114918     Document Type: Article
Times cited : (22)

References (41)
  • 2
    • 68149099553 scopus 로고    scopus 로고
    • The pathophysiology of mitochondrial disease as modeled in the mouse
    • Wallace DC, Fan W (2009) The pathophysiology of mitochondrial disease as modeled in the mouse. Genes & Development 23: 1714-1736.
    • (2009) Genes & Development , vol.23 , pp. 1714-1736
    • Wallace, D.C.1    Fan, W.2
  • 5
    • 19444380425 scopus 로고    scopus 로고
    • Nuclear genes and mitochondrial translation: A new class of genetic disease
    • Jacobs HT, Turnbull DM (2005) Nuclear genes and mitochondrial translation: a new class of genetic disease. Trends in genetics: TIG 21: 312-314.
    • (2005) Trends in Genetics: TIG , vol.21 , pp. 312-314
    • Jacobs, H.T.1    Turnbull, D.M.2
  • 6
    • 63449105579 scopus 로고    scopus 로고
    • Methylation of 12S rRNA is necessary for in vivo stability of the small subunit of the mammalian mitochondrial ribosome
    • Metodiev MD, Lesko N, Park CB, Camara Y, Shi Y, et al. (2009) Methylation of 12S rRNA is necessary for in vivo stability of the small subunit of the mammalian mitochondrial ribosome. Cell metabolism 9: 386-397.
    • (2009) Cell Metabolism , vol.9 , pp. 386-397
    • Metodiev, M.D.1    Lesko, N.2    Park, C.B.3    Camara, Y.4    Shi, Y.5
  • 8
    • 84873087072 scopus 로고    scopus 로고
    • Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease
    • Kornblum C, Nicholls TJ, Haack TB, Scholer S, Peeva V, et al. (2013) Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. Nature genetics 45: 214-219.
    • (2013) Nature Genetics , vol.45 , pp. 214-219
    • Kornblum, C.1    Nicholls, T.J.2    Haack, T.B.3    Scholer, S.4    Peeva, V.5
  • 10
    • 2442691791 scopus 로고    scopus 로고
    • Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA)
    • Bykhovskaya Y, Casas K, Mengesha E, Inbal A, Fischel-Ghodsian N (2004) Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). American journal of human genetics 74: 1303-1308.
    • (2004) American Journal of Human Genetics , vol.74 , pp. 1303-1308
    • Bykhovskaya, Y.1    Casas, K.2    Mengesha, E.3    Inbal, A.4    Fischel-Ghodsian, N.5
  • 11
    • 80052780458 scopus 로고    scopus 로고
    • Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation
    • Tucker EJ, Hershman SG, Kohrer C, Belcher-Timme CA, Patel J, et al. (2011) Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. Cell metabolism 14: 428-434.
    • (2011) Cell Metabolism , vol.14 , pp. 428-434
    • Tucker, E.J.1    Hershman, S.G.2    Kohrer, C.3    Belcher-Timme, C.A.4    Patel, J.5
  • 13
    • 12544259245 scopus 로고    scopus 로고
    • Mitochondria-specific RNA-modifying enzymes responsible for the biosynthesis of the wobble base in mitochondrial tRNAs. Implications for the molecular pathogenesis of human mitochondrial diseases
    • Umeda N, Suzuki T, Yukawa M, Ohya Y, Shindo H, et al. (2005) Mitochondria-specific RNA-modifying enzymes responsible for the biosynthesis of the wobble base in mitochondrial tRNAs. Implications for the molecular pathogenesis of human mitochondrial diseases. The Journal of biological chemistry 280: 1613-1624.
    • (2005) The Journal of Biological Chemistry , vol.280 , pp. 1613-1624
    • Umeda, N.1    Suzuki, T.2    Yukawa, M.3    Ohya, Y.4    Shindo, H.5
  • 14
    • 64549152445 scopus 로고    scopus 로고
    • Mutation in MTO1 involved in tRNA modification impairs mitochondrial RNA metabolism in the yeast Saccharomyces cerevisiae
    • Wang X, Yan Q, Guan MX (2009) Mutation in MTO1 involved in tRNA modification impairs mitochondrial RNA metabolism in the yeast Saccharomyces cerevisiae. Mitochondrion 9: 180-185.
    • (2009) Mitochondrion , vol.9 , pp. 180-185
    • Wang, X.1    Yan, Q.2    Guan, M.X.3
  • 16
    • 80955139473 scopus 로고    scopus 로고
    • Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease
    • Uusimaa J, Jungbluth H, Fratter C, Crisponi G, Feng L, et al. (2011) Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease. Journal of medical genetics 48: 660-668.
    • (2011) Journal of Medical Genetics , vol.48 , pp. 660-668
    • Uusimaa, J.1    Jungbluth, H.2    Fratter, C.3    Crisponi, G.4    Feng, L.5
  • 17
    • 84892736006 scopus 로고    scopus 로고
    • Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases
    • Gaignard P, Gonzales E, Ackermann O, Labrune P, Correia I, et al. (2013) Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases. JIMD reports 11: 117-123.
    • (2013) JIMD Reports , vol.11 , pp. 117-123
    • Gaignard, P.1    Gonzales, E.2    Ackermann, O.3    Labrune, P.4    Correia, I.5
  • 19
  • 20
    • 84885434357 scopus 로고    scopus 로고
    • MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast
    • Baruffini E, Dallabona C, Invernizzi F, Yarham JW, Melchionda L, et al. (2013) MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast. Human mutation.
    • (2013) Human Mutation
    • Baruffini, E.1    Dallabona, C.2    Invernizzi, F.3    Yarham, J.W.4    Melchionda, L.5
  • 23
    • 21444455843 scopus 로고    scopus 로고
    • Introducing the German Mouse Clinic: Open access platform for standardized phenotyping
    • Gailus-Durner V, Fuchs H, Becker L, Bolle I, Brielmeier M, et al. (2005) Introducing the German Mouse Clinic: open access platform for standardized phenotyping. Nature methods 2: 403-404.
    • (2005) Nature Methods , vol.2 , pp. 403-404
    • Gailus-Durner, V.1    Fuchs, H.2    Becker, L.3    Bolle, I.4    Brielmeier, M.5
  • 24
    • 17044456392 scopus 로고    scopus 로고
    • Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR
    • He L, Chinnery PF, Durham SE, Blakely EL, Wardell TM, et al. (2002) Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR. Nucleic acids research 30: e68.
    • (2002) Nucleic Acids Research , vol.30 , pp. e68
    • He, L.1    Chinnery, P.F.2    Durham, S.E.3    Blakely, E.L.4    Wardell, T.M.5
  • 25
    • 78650702096 scopus 로고    scopus 로고
    • Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency
    • Kemp JP, Smith PM, Pyle A, Neeve VC, Tuppen HA, et al. (2011) Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency. Brain: a journal of neurology 134: 183-195.
    • (2011) Brain: A Journal of Neurology , vol.134 , pp. 183-195
    • Kemp, J.P.1    Smith, P.M.2    Pyle, A.3    Neeve, V.C.4    Tuppen, H.A.5
  • 26
    • 13444271923 scopus 로고    scopus 로고
    • Mitochondrial biogenesis and mitochondrial DNA maintenance of mammalian cells under oxidative stress
    • Lee HC, Wei YH (2005) Mitochondrial biogenesis and mitochondrial DNA maintenance of mammalian cells under oxidative stress. The international journal of biochemistry & cell biology 37: 822-834.
    • (2005) The International Journal of Biochemistry & Cell Biology , vol.37 , pp. 822-834
    • Lee, H.C.1    Wei, Y.H.2
  • 27
    • 0031930319 scopus 로고    scopus 로고
    • Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in mice
    • Larsson NG, Wang J, Wilhelmsson H, Oldfors A, Rustin P, et al. (1998) Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in mice. Nat Genet 18: 231-236.
    • (1998) Nat Genet , vol.18 , pp. 231-236
    • Larsson, N.G.1    Wang, J.2    Wilhelmsson, H.3    Oldfors, A.4    Rustin, P.5
  • 31
    • 84899100159 scopus 로고    scopus 로고
    • Complex I deficiency due to selective loss of ndufs4 in the mouse heart results in severe hypertrophic cardiomyopathy
    • Chouchani ET, Methner C, Buonincontri G, Hu CH, Logan A, et al. (2014) Complex I deficiency due to selective loss of ndufs4 in the mouse heart results in severe hypertrophic cardiomyopathy. PloS one 9: e94157.
    • (2014) PloS One , vol.9 , pp. e94157
    • Chouchani, E.T.1    Methner, C.2    Buonincontri, G.3    Hu, C.H.4    Logan, A.5
  • 32
    • 70350694223 scopus 로고    scopus 로고
    • Importance of the bioenergetic reserve capacity in response to cardiomyocyte stress induced by 4-hydroxynonenal
    • Hill BG, Dranka BP, Zou L, Chatham JC, Darley-Usmar VM (2009) Importance of the bioenergetic reserve capacity in response to cardiomyocyte stress induced by 4-hydroxynonenal. The Biochemical journal 424: 99-107.
    • (2009) The Biochemical Journal , vol.424 , pp. 99-107
    • Hill, B.G.1    Dranka, B.P.2    Zou, L.3    Chatham, J.C.4    Darley-Usmar, V.M.5
  • 34
    • 33947138770 scopus 로고    scopus 로고
    • Carvedilol inhibits mitochondrial complex I and induces resistance to H2O2 -mediated oxidative insult in H9C2 myocardial cells
    • Sgobbo P, Pacelli C, Grattagliano I, Villani G, Cocco T (2007) Carvedilol inhibits mitochondrial complex I and induces resistance to H2O2 -mediated oxidative insult in H9C2 myocardial cells. Biochimica et biophysica acta 1767: 222-232.
    • (2007) Biochimica et Biophysica Acta , vol.1767 , pp. 222-232
    • Sgobbo, P.1    Pacelli, C.2    Grattagliano, I.3    Villani, G.4    Cocco, T.5
  • 35
    • 39549102405 scopus 로고    scopus 로고
    • Ischemic defects in the electron transport chain increase the production of reactive oxygen species from isolated rat heart mitochondria
    • Chen Q, Moghaddas S, Hoppel CL, Lesnefsky EJ (2008) Ischemic defects in the electron transport chain increase the production of reactive oxygen species from isolated rat heart mitochondria. American journal of physiology Cell physiology 294: C460-466.
    • (2008) American Journal of Physiology Cell Physiology , vol.294 , pp. C460-C466
    • Chen, Q.1    Moghaddas, S.2    Hoppel, C.L.3    Lesnefsky, E.J.4
  • 37
    • 0030853263 scopus 로고    scopus 로고
    • Quantification of muscle mitochondrial oxidative phosphorylation enzymes via histochemical staining of blue native polyacrylamide gels
    • Zerbetto E, Vergani L, Dabbeni-Sala F (1997) Quantification of muscle mitochondrial oxidative phosphorylation enzymes via histochemical staining of blue native polyacrylamide gels. Electrophoresis 18: 2059-2064.
    • (1997) Electrophoresis , vol.18 , pp. 2059-2064
    • Zerbetto, E.1    Vergani, L.2    Dabbeni-Sala, F.3
  • 38
    • 36348941768 scopus 로고    scopus 로고
    • Functional assays in high-resolution clear native gels to quantify mitochondrial complexes in human biopsies and cell lines
    • Wittig I, Carrozzo R, Santorelli FM, Schagger H (2007) Functional assays in high-resolution clear native gels to quantify mitochondrial complexes in human biopsies and cell lines. Electrophoresis 28: 3811-3820.
    • (2007) Electrophoresis , vol.28 , pp. 3811-3820
    • Wittig, I.1    Carrozzo, R.2    Santorelli, F.M.3    Schagger, H.4
  • 39
    • 33846619694 scopus 로고    scopus 로고
    • The mouse Trm1-like gene is expressed in neural tissues and plays a role in motor coordination and exploratory behaviour
    • Vauti F, Goller T, Beine R, Becker L, Klopstock T, et al. (2007) The mouse Trm1-like gene is expressed in neural tissues and plays a role in motor coordination and exploratory behaviour. Gene 389: 174-185.
    • (2007) Gene , vol.389 , pp. 174-185
    • Vauti, F.1    Goller, T.2    Beine, R.3    Becker, L.4    Klopstock, T.5
  • 40
    • 57049158886 scopus 로고    scopus 로고
    • Reliability, robustness, and reproducibility in mouse behavioral phenotyping: A cross-laboratory study
    • Mandillo S, Tucci V, Holter SM, Meziane H, Banchaabouchi MA, et al. (2008) Reliability, robustness, and reproducibility in mouse behavioral phenotyping: a cross-laboratory study. Physiological genomics 34: 243-255.
    • (2008) Physiological Genomics , vol.34 , pp. 243-255
    • Mandillo, S.1    Tucci, V.2    Holter, S.M.3    Meziane, H.4    Banchaabouchi, M.A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.