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Volumn 20, Issue 15, 2011, Pages 2964-2974

adPEO mutations in ANT1 impair ADP-ATP translocation in muscle mitochondria

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE NUCLEOTIDE TRANSLOCASE; ADENOSINE DIPHOSPHATE; ADENOSINE TRIPHOSPHATE;

EID: 79960131601     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr200     Document Type: Article
Times cited : (33)

References (49)
  • 1
    • 0034951975 scopus 로고    scopus 로고
    • Diseases caused by nuclear genes affecting mtDNA stability
    • Suomalainen, A. and Kaukonen, J. (2001) Diseases caused by nuclear genes affecting mtDNA stability. Am. J. Med. Genet., 106, 53-61.
    • (2001) Am. J. Med. Genet. , vol.106 , pp. 53-61
    • Suomalainen, A.1    Kaukonen, J.2
  • 2
    • 0034943967 scopus 로고    scopus 로고
    • Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
    • Van Goethem, G., Dermaut, B., Lofgren, A., Martin, J.J. and Van Broeckhoven, C. (2001) Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat. Genet., 28, 211-212.
    • (2001) Nat. Genet. , vol.28 , pp. 211-212
    • Van Goethem, G.1    Dermaut, B.2    Lofgren, A.3    Martin, J.J.4    Van Broeckhoven, C.5
  • 3
    • 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. (2001) Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat. Genet., 8, 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
  • 5
    • 15944414797 scopus 로고    scopus 로고
    • A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia
    • Deschauer, M., Hudson, G., Muller, T., Taylor, R.W., Chinnery, P.F. and Zierz, S. (2005) A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia. Neuromuscul. Disord., 15, 311-315.
    • (2005) Neuromuscul. Disord. , vol.15 , pp. 311-315
    • Deschauer, M.1    Hudson, G.2    Muller, T.3    Taylor, R.W.4    Chinnery, P.F.5    Zierz, S.6
  • 6
    • 0036225534 scopus 로고    scopus 로고
    • A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions
    • Komaki, H., Fukazawa, T., Houzen, H., Yoshida, K., Nonaka, I. and Goto, Y. (2002) A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions. Ann. Neurol., 51, 645-648.
    • (2002) Ann. Neurol. , vol.51 , pp. 645-648
    • Komaki, H.1    Fukazawa, T.2    Houzen, H.3    Yoshida, K.4    Nonaka, I.5    Goto, Y.6
  • 8
    • 0033564856 scopus 로고    scopus 로고
    • Transport of the ADP/ATP carrier of mitochondria from the TOM complex to the TIM22.54 complex
    • Endres, M., Neupert, W. and Brunner, M. (1999) Transport of the ADP/ATP carrier of mitochondria from the TOM complex to the TIM22.54 omplex. EMBO J., 18, 3214-3221.
    • (1999) EMBO J. , vol.18 , pp. 3214-3221
    • Endres, M.1    Neupert, W.2    Brunner, M.3
  • 9
    • 0023645869 scopus 로고
    • The carboxyl-terminal two-thirds of the ADP/ATP carrier polypeptide contains sufficient information to direct translocation into mitochondria
    • Pfanner, N., Hoeben, P., Tropschug, M. and Neupert, W. (1987) The carboxyl-terminal two-thirds of the ADP/ATP carrier polypeptide contains sufficient information to direct translocation into mitochondria. J. Biol. Chem., 262, 14851-14854.
    • (1987) J. Biol. Chem. , vol.262 , pp. 14851-14854
    • Pfanner, N.1    Hoeben, P.2    Tropschug, M.3    Neupert, W.4
  • 10
    • 0040610684 scopus 로고    scopus 로고
    • Functional staging of ADP/ATP carrier translocation across the outer mitochondrial membrane
    • Ryan, M.T., Muller, H. and Pfanner, N. (1999) Functional staging of ADP/ATP carrier translocation across the outer mitochondrial membrane. J. Biol. hem., 274, 20619-20627.
    • (1999) J. Biol. Chem. , vol.274 , pp. 20619-20627
    • Ryan, M.T.1    Muller, H.2    Pfanner, N.3
  • 11
    • 2442609694 scopus 로고    scopus 로고
    • Mobilization of adenine nucleotide translocators as molecular bases of the biochemical threshold effect observed in mitochondrial diseases
    • Faustin, B., Rossignol, R., Rocher, C., Benard, G., Malgat, M. and Letellier, T. (2004) Mobilization of adenine nucleotide translocators as molecular bases of the biochemical threshold effect observed in mitochondrial diseases. J. Biol. Chem., 279, 20411-20421.
    • (2004) J. Biol. Chem. , vol.279 , pp. 20411-20421
    • Faustin, B.1    Rossignol, R.2    Rocher, C.3    Benard, G.4    Malgat, M.5    Letellier, T.6
  • 12
  • 13
    • 0029116916 scopus 로고
    • The mitochondrial permeability transition
    • Zoratti, M. and Szabo, I. (1995) The mitochondrial permeability transition. Biochim. Biophys. Acta, 1241, 139-176.
    • (1995) Biochim. Biophys. Acta , vol.1241 , pp. 139-176
    • Zoratti, M.1    Szabo, I.2
  • 17
    • 12744273967 scopus 로고    scopus 로고
    • A fourth ADP/ATP carrier isoform in man: identification, bacterial expression, functional characterization and tissue distribution
    • Dolce, V., Scarcia, P., Iacopetta, D. and Palmieri, F. (2005) A fourth ADP/ATP carrier isoform in man: identification, bacterial expression, functional characterization and tissue distribution. FEBS Lett., 579, 633-637.
    • (2005) FEBS Lett. , vol.579 , pp. 633-637
    • Dolce, V.1    Scarcia, P.2    Iacopetta, D.3    Palmieri, F.4
  • 18
    • 0033611057 scopus 로고    scopus 로고
    • Adenine nucleotide translocase-1, a component of the permeability transition pore, can dominantly induce apoptosis
    • Bauer, M.K., Schubert, A., Rocks, O. and Grimm, S. (1999) Adenine nucleotide translocase-1, a component of the permeability transition pore, can dominantly induce apoptosis. J. Cell Biol., 147, 1493-1502.
    • (1999) J. Cell Biol. , vol.147 , pp. 1493-1502
    • Bauer, M.K.1    Schubert, A.2    Rocks, O.3    Grimm, S.4
  • 19
    • 0026718789 scopus 로고
    • Differential expression of adenine nucleotide translocator isoforms in mammalian tissues and during muscle cell differentiation
    • Stepien, G., Torroni, A., Chung, A.B., Hodge, J.A. and Wallace, D.C. (1992) Differential expression of adenine nucleotide translocator isoforms in mammalian tissues and during muscle cell differentiation. J. Biol. Chem., 267, 14592-14597.
    • (1992) J. Biol. Chem. , vol.267 , pp. 14592-14597
    • Stepien, G.1    Torroni, A.2    Chung, A.B.3    Hodge, J.A.4    Wallace, D.C.5
  • 20
    • 0036437330 scopus 로고    scopus 로고
    • Myogenic regulatory factors and the specification of muscle progenitors in vertebrate embryos
    • Pownall, M.E., Gustafsson, M.K. and Emerson, C.P. Jr (2002) Myogenic regulatory factors and the specification of muscle progenitors in vertebrate mbryos. Annu. Rev. Cell Dev. Biol., 18, 747-783.
    • (2002) Annu. Rev. Cell Dev. Biol. , vol.18 , pp. 747-783
    • Pownall, M.E.1    Gustafsson, M.K.2    Emerson Jr., C.P.3
  • 22
    • 0017188421 scopus 로고
    • Antibody evidence for different conformational states of ADP, ATP translocator protein isolated from mitochondria
    • Buchanan, B.B., Eiermann, W., Riccio, P., Aquila, H. and Klingenberg, M. (1976) Antibody evidence for different conformational states of ADP, ATP translocator protein isolated from mitochondria. Proc. Natl. Acad. Sci. USA, 73, 2280-2284.
    • (1976) Proc. Natl. Acad. Sci. USA , vol.73 , pp. 2280-2284
    • Buchanan, B.B.1    Eiermann, W.2    Riccio, P.3    Aquila, H.4    Klingenberg, M.5
  • 23
    • 0036838370 scopus 로고    scopus 로고
    • Inherited Mendelian defects of nuclear-mitochondrial communication affecting the stability of mitochondrial DNA
    • Limongelli, A. and Tiranti, V. (2002) Inherited Mendelian defects of nuclear-mitochondrial communication affecting the stability of mitochondrial DNA. itochondrion, 2, 39-46.
    • (2002) Mitochondrion , vol.2 , pp. 39-46
    • Limongelli, A.1    Tiranti, V.2
  • 24
    • 77956878393 scopus 로고    scopus 로고
    • A kinetic assay of mitochondrial ADP-ATP exchange rate in permeabilized cells
    • Kawamata, H., Starkov, A.A., Manfredi, G. and Chinopoulos, C. A kinetic assay of mitochondrial ADP-ATP exchange rate in permeabilized cells. nal. Biochem., 407, 52-57.
    • Anal. Biochem. , vol.407 , pp. 52-57
    • Kawamata, H.1    Starkov, A.A.2    Manfredi, G.3    Chinopoulos, C.4
  • 25
    • 0036667983 scopus 로고    scopus 로고
    • Induction of an unregulated channel by mutations in adenine nucleotide translocase suggests an explanation for human ophthalmoplegia
    • Chen, X.J. (2002) Induction of an unregulated channel by mutations in adenine nucleotide translocase suggests an explanation for human ophthalmoplegia. Hum. Mol. Genet., 11, 1835-1843.
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 1835-1843
    • Chen, X.J.1
  • 26
    • 16544382212 scopus 로고    scopus 로고
    • Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability
    • Fontanesi, F., Palmieri, L., Scarcia, P., Lodi, T., Donnini, C., Limongelli, A., Tiranti, V., Zeviani, M., Ferrero, I. and Viola, A.M. (2004) Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability. Hum. Mol. Genet., 13, 923-934.
    • (2004) Hum. Mol. Genet. , vol.13 , pp. 923-934
    • Fontanesi, F.1    Palmieri, L.2    Scarcia, P.3    Lodi, T.4    Donnini, C.5    Limongelli, A.6    Tiranti, V.7    Zeviani, M.8    Ferrero, I.9    Viola, A.M.10
  • 27
    • 57049091540 scopus 로고    scopus 로고
    • Dominant membrane uncoupling by mutant adenine nucleotide translocase in mitochondrial diseases
    • Wang, X., Salinas, K., Zuo, X., Kucejova, B. and Chen, X.J. (2008) Dominant membrane uncoupling by mutant adenine nucleotide translocase in itochondrial diseases. Hum. Mol. Genet., 17, 4036-4044.
    • (2008) Hum. Mol. Genet. , vol.17 , pp. 4036-4044
    • Wang, X.1    Salinas, K.2    Zuo, X.3    Kucejova, B.4    Chen, X.J.5
  • 29
    • 0032563604 scopus 로고    scopus 로고
    • Transient mitochondrial depolarizations reflect focal sarcoplasmic reticular calcium release in single rat cardiomyocytes
    • Duchen, M.R., Leyssens, A. and Crompton, M. (1998) Transient mitochondrial depolarizations reflect focal sarcoplasmic reticular calcium release in ingle rat cardiomyocytes. J. Cell Biol., 142, 975-988.
    • (1998) J. Cell Biol. , vol.142 , pp. 975-988
    • Duchen, M.R.1    Leyssens, A.2    Crompton, M.3
  • 30
    • 77958542380 scopus 로고    scopus 로고
    • Superoxide flashes in mouse skeletal muscle are produced by discrete arrays of active mitochondria operating coherently
    • e13035
    • Pouvreau, S. (2010) Superoxide flashes in mouse skeletal muscle are produced by discrete arrays of active mitochondria operating coherently. PLoS ne, 5, pii, e13035.
    • (2010) PLoS One , vol.5
    • Pouvreau, S.1
  • 31
    • 0031011211 scopus 로고    scopus 로고
    • A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator
    • Graham, B.H., Waymire, K.G., Cottrell, B., Trounce, I.A., MacGregor, G.R. and Wallace, D.C. (1997) A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator. Nat. Genet., 16, 226-234.
    • (1997) Nat. Genet. , vol.16 , pp. 226-234
    • Graham, B.H.1    Waymire, K.G.2    Cottrell, B.3    Trounce, I.A.4    MacGregor, G.R.5    Wallace, D.C.6
  • 34
    • 0242582958 scopus 로고    scopus 로고
    • Deoxyribonucleotide pool imbalance stimulates deletions in HeLa cell mitochondrial DNA
    • Song, S., Wheeler, L.J. and Mathews, C.K. (2003) Deoxyribonucleotide pool imbalance stimulates deletions in HeLa cell mitochondrial DNA. J. Biol. hem., 278, 43893-43896.
    • (2003) J. Biol. Chem. , vol.278 , pp. 43893-43896
    • Song, S.1    Wheeler, L.J.2    Mathews, C.K.3
  • 35
    • 21644445569 scopus 로고    scopus 로고
    • Mitochondrial deoxynucleotide pools in quiescent fibroblasts: a possible model for mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
    • Ferraro, P., Pontarin, G., Crocco, L., Fabris, S., Reichard, P. and Bianchi, V. (2005) Mitochondrial deoxynucleotide pools in quiescent fibroblasts: a possible model for mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). J. Biol. Chem., 280, 24472-24480.
    • (2005) J. Biol. Chem. , vol.280 , pp. 24472-24480
    • Ferraro, P.1    Pontarin, G.2    Crocco, L.3    Fabris, S.4    Reichard, P.5    Bianchi, V.6
  • 36
    • 33747339725 scopus 로고    scopus 로고
    • Mitochondrial DNA depletion and thymidine phosphate pool dynamics in a cellular model of mitochondrial neurogastrointestinal encephalomyopathy
    • Pontarin, G., Ferraro, P., Valentino, M.L., Hirano, M., Reichard, P. and Bianchi, V. (2006) Mitochondrial DNA depletion and thymidine phosphate pool dynamics in a cellular model of mitochondrial neurogastrointestinal encephalomyopathy. J. Biol. Chem., 281, 22720-22728.
    • (2006) J. Biol. Chem. , vol.281 , pp. 22720-22728
    • Pontarin, G.1    Ferraro, P.2    Valentino, M.L.3    Hirano, M.4    Reichard, P.5    Bianchi, V.6
  • 38
    • 2442558106 scopus 로고    scopus 로고
    • Protein components of mitochondrial DNA nucleoids in higher eukaryotes
    • Bogenhagen, D.F., Wang, Y., Shen, E.L. and Kobayashi, R. (2003) Protein components of mitochondrial DNA nucleoids in higher eukaryotes. Mol. ell Proteomics, 2, 1205-1216.
    • (2003) Mol. Cell Proteomics , vol.2 , pp. 1205-1216
    • Bogenhagen, D.F.1    Wang, Y.2    Shen, E.L.3    Kobayashi, R.4
  • 39
    • 0020960766 scopus 로고
    • Cytoplasmic activation of human nuclear genes in stable heterocaryons
    • Blau, H.M., Chiu, C.P. and Webster, C. (1983) Cytoplasmic activation of human nuclear genes in stable heterocaryons. Cell, 32, 1171-1180.
    • (1983) Cell , vol.32 , pp. 1171-1180
    • Blau, H.M.1    Chiu, C.P.2    Webster, C.3
  • 42
    • 0035227198 scopus 로고    scopus 로고
    • Isolation and subfractionation of mitochondria from animal cells and tissue culture lines
    • Pallotti, F. and Lenaz, G. (2001) Isolation and subfractionation of mitochondria from animal cells and tissue culture lines. Methods Cell Biol., 65, 1-35.
    • (2001) Methods Cell Biol , vol.65 , pp. 1-35
    • Pallotti, F.1    Lenaz, G.2
  • 43
    • 14944385595 scopus 로고    scopus 로고
    • Mutant superoxide dismutase 1 forms aggregates in the brain mitochondrial matrix of amyotrophic lateral sclerosis mice
    • Vijayvergiya, C., Beal, M.F., Buck, J. and Manfredi, G. (2005) Mutant superoxide dismutase 1 forms aggregates in the brain mitochondrial matrix of amyotrophic lateral sclerosis mice. J. Neurosci., 25, 2463-2470.
    • (2005) J. Neurosci. , vol.25 , pp. 2463-2470
    • Vijayvergiya, C.1    Beal, M.F.2    Buck, J.3    Manfredi, G.4
  • 45
    • 17344392308 scopus 로고    scopus 로고
    • A new mathematical model for relative quantification in real-time RT-PCR
    • Pfaffl, M.W. (2001) A new mathematical model for relative quantification in real-time RT-PCR. Nucleic Acids Res., 29, e45.
    • (2001) Nucleic Acids Res. , vol.29
    • Pfaffl, M.W.1
  • 46
    • 0029964226 scopus 로고    scopus 로고
    • Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, and transmitochondrial cell lines
    • Trounce, I.A., Kim, Y.L., Jun, A.S. and Wallace, D.C. (1996) Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, and transmitochondrial cell lines. Methods Enzymol., 264, 484-509.
    • (1996) Methods Enzymol. , vol.264 , pp. 484-509
    • Trounce, I.A.1    Kim, Y.L.2    Jun, A.S.3    Wallace, D.C.4
  • 48
    • 65349105507 scopus 로고    scopus 로고
    • A novel kinetic assay of mitochondrial ATP-ADP exchange rate mediated by the ANT
    • Chinopoulos, C., Vajda, S., Csanady, L., Mandi, M., Mathe, K. and Adam-Vizi, V. (2009) A novel kinetic assay of mitochondrial ATP-ADP exchange rate mediated by the ANT. Biophys. J., 96, 2490-2504.
    • (2009) Biophys. J. , vol.96 , pp. 2490-2504
    • Chinopoulos, C.1    Vajda, S.2    Csanady, L.3    Mandi, M.4    Mathe, K.5    Adam-Vizi, V.6
  • 49
    • 77954429761 scopus 로고    scopus 로고
    • Forward operation of adenine nucleotide translocase during F0F1-ATPase reversal: critical role of matrix substrate-level phosphorylation
    • Chinopoulos, C., Gerencser, A.A., Mandi, M., Mathe, K., Torocsik, B., Doczi, J., Turiak, L., Kiss, G., Konrad, C., Vajda, S. et al. (2010) Forward operation of adenine nucleotide translocase during F0F1-ATPase reversal: critical role of matrix substrate-level phosphorylation. FASEB J., 24, 2405-2416.
    • (2010) FASEB J. , vol.24 , pp. 2405-2416
    • Chinopoulos, C.1    Gerencser, A.A.2    Mandi, M.3    Mathe, K.4    Torocsik, B.5    Doczi, J.6    Turiak, L.7    Kiss, G.8    Konrad, C.9    Vajda, S.10


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