References of Mitochondrial Interest (Authors A-L)

Date of last update: 5/5/08. 
This page is part of  Mitomap: A Human Mitochondrial Genome Database.

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A

Abad, M. M., Cotter, P. D., Fodor, F. H., Larson, S., Ginsberg-Fellner, F., Desnick, R. J. and Abdenur, J. E. (1997). "Screening for the mitochondrial DNA A3243G mutation in children with insulin-dependent diabetes mellitus." Metabolism 46(4):445-449.

Abe, K., Fujimura, H., Nishikawa, Y., Yorifuji, S., Mezaki, T., Hirono, N., Nishitani, N. and Kameyama, M. (1991). "Marked reduction in CSF lactate and pyruvate levels after CoQ therapy in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)." Acta Neurologica Scandinavica 83(6):356-359.

Abe, S., Usami, S., Shinkawa, H., Weston, M. D., Overbeck, L. D., Hoover, D. M., Kenyon, J. B., Horai, S. and Kimberling, W. J. (1998). "Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation." European Journal of Human Genetics 6(6):563-569.

Abrahams, J. P., Leslie, A. G., Lutter, R. and Walker, J. E. (1994). "Structure at 2.8 A resolution of F1-ATPase from bovine heart mitochondria [see comments]." Nature 370(6491):621-628.

Abu-Amero, K. K. and Bosley, T. M. (2005). "Detection of mitochondrial respiratory dysfunction in circulating lymphocytes using resazurin." Archives of Pathology and Laboratory Medicine 129(10):1295-1298.

Abu-Amero, K. K. and Bosley, T. M. (2006). "Prothrombotic and atherosclerotic risk factors lack significance in NAION patients harbouring mitochondrial DNA mutations." British Journal of Ophthalmology 90(1):119-120.

Abu-Amero, K. K. and Bosley, T. M. (2006). "Increased relative mitochondrial DNA content in leucocytes of patients with NAION." British Journal of Ophthalmology 90(7):823-825.

Abu-Amero, K. K. and Bosley, T. M. (2006). "Mitochondrial abnormalities in patients with LHON-like optic neuropathies." Investigative Ophthalmology and Visual Science 47(10):4211-4220.

Abu-Amero, K. K., Alzahrani, A. S., Zou, M. and Shi, Y. (2005). "High frequency of somatic mitochondrial DNA mutations in human thyroid carcinomas and complex I respiratory defect in thyroid cancer cell lines." Oncogene 24(8):1455-1460.

Abu-Amero, K. K., Alzahrani, A. S., Zou, M. and Shi, Y. (2006). "Association of mitochondrial DNA transversion mutations with familial medullary thyroid carcinoma/multiple endocrine neoplasia type 2 syndrome." Oncogene 25(5):677-684.

Abu-Amero, K. K., Bosley, T. M. and Morales, J. (2008). "Analysis of nuclear and mitochondrial genes in patients with pseudoexfoliation glaucoma." Molecular Vision 14:29-36.

Abu-Amero, K. K., Bosley, T. M., Bohlega, S. and McLean, D. (2005). "Complex I respiratory defect in LHON plus dystonia with no mitochondrial DNA mutation." British Journal of Ophthalmology 89(10):1380-1381.

Abu-Amero, K. K., Gonzalez, A. M., Larruga, J. M., Bosley, T. M. and Cabrera, V. M. (2007). "Eurasian and African mitochondrial DNA influences in the Saudi Arabian population." BMC Evolutionary Biology 7:32.

Abu-Amero, K. K., Morales, J. and Bosley, T. M. (2006). "Mitochondrial abnormalities in patients with primary open-angle glaucoma." Investigative Ophthalmology and Visual Science 47(6):2533-2541.

Abu-Amero, K. K., Ozand, P. T. and Al-Dhalaan, H. (2006). "Novel mitochondrial DNA transversion mutation in transfer ribonucleic acid for leucine 2 (CUN) in a patient with the clinical features of MELAS." Journal of Child Neurology 21(11):971-972.

Abu-Amero, K., Zou, M. and Shi, Y. (2004). "Mitochondrial A13514G mutation without MELAS but in association with papillary thyroid carcinoma." Clinical Genetics 66(6):569-570.

Abu-Erreish, G. M. and Sanadi, D. R. (1978). "Age-related changes in cytochrome concentration of myocardial mitochondria." Mechanisms of Ageing and Development 7(6):425-432.

Acaroglu, G., Kansu, T. and Dogulu, C. F. (2001). "Visual recovery patterns in children with Leber's hereditary optic neuropathy." International Ophthalmology 24(6):349-355.

Accetturo, M., Santamaria, M., Lascaro, D., Rubino, F., Achilli, A., Torroni, A., Tommaseo-Ponzetta, M. and Attimonelli, M. (2006). "Human mtDNA site-specific variability values can act as haplogroup markers." Hum Mutat 27(9):965-974.

Achilli, A., Rengo, C., Battaglia, V., Pala, M., Olivieri, A., Fornarino, S., Magri, C., Scozzari, R., Babudri, N., Santachiara-Benerecetti, A. S., Bandelt, H. J., Semino, O. and Torroni, A. (2005). "Saami and Berbers--an unexpected mitochondrial DNA link." American Journal of Human Genetics 76(5):883-886.

Achilli, A., Rengo, C., Magri, C., Battaglia, V., Olivieri, A., et al. (2004). "The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool." American Journal of Human Genetics 75(5):910-918.

Acin-Perez, R., Bayona-Bafaluy, M. P., Fernandez-Silva, P., Moreno-Loshuertos, R., Perez-Martos, A., Bruno, C., Moraes, C. T. and Enriquez, J. A. (2004). "Respiratory complex III is required to maintain complex I in mammalian mitochondria." Molecular Cell 13(6):805-815.

Adachi, K., Fujiura, Y., Mayumi, F., Nozuhara, A., Sugiu, Y., Sakanashi, T., Hidaka, T. and Toshima, H. (1993). "A deletion of mitochondrial DNA in murine doxorubicin-induced cardiotoxicity." Biochemical and Biophysical Research Communications 195(2):945-951.

Adams, J. H., Blackwood, W. and Wilson, J. (1966). "Further clinical and pathological observations on Leber's optic atrophy." Brain 89(1):15-26.

Adams, V., Griffin, L., Towbin, J., Gelb, B., Worley, K. and McCabe, E. R. (1991). "Porin interaction with hexokinase and glycerol kinase: metabolic microcompartmentation at the outer mitochondrial membrane." Biochemical Medicine and Metabolic Biology 45(3):271-291.

Adamson, G. M. and Billings, R. E. (1992). "Tumor necrosis factor induced oxidative stress in isolated mouse hepatocytes." Archives of Biochemistry and Biophysics 294(1):223-229.

Adhihetty, P. J., Irrcher, I., Joseph, A. M., Ljubicic, V. and Hood, D. A. (2003). "Plasticity of skeletal muscle mitochondria in response to contractile activity." Experimental Physiology 88(1):99-107.

Afifi, A. K., Ibrahim, M. Z., Bergman, R. A., Haydar, N. A., Mire, J., Bahuth, N. and Kaylani, F. (1972). "Morphologic features of hypermetabolic mitochondrial disease. A light microscopic, histochemical and electron microscopic study." Journal of the Neurological Sciences 15(3):271-290.

Agarwal, R. P. and Olivero, O. A. (1997). "Genotoxicity and mitochondrial damage in human lymphocytic cells chronically exposed to 3'-azido-2',3'-dideoxythymidine." Mutation Research 390(3):223-231.

Agostino, A., Valletta, L., Chinnery, P. F., Ferrari, G., Carrara, F., Taylor, R. W., Schaefer, A. M., Turnbull, D. M., Tiranti, V. and Zeviani, M. (2003). "Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)." Neurology 60(8):1354-1356.

Agris, P. F. (1996). "The importance of being modified: roles of modified nucleosides and Mg2+ in RNA structure and function." Progress in Nucleic Acid Research and Molecular biology 53:79-129.

Aguilera, I., Garcia-Lozano, J. R., Bautista, J., Campos, Y., Arenas, J. and Nunez-Roldan, A. (1999). "A novel missense mutation 15747 T>C in the mitochondrial cytochrome b gene." Human Mutation (Online) 14(6):545.

Ahmed, I. and Krishnamoorthy, G. (1992). "The non-equivalence of binding sites of coenzyme quinone and rotenone in mitochondrial NADH-CoQ reductase." FEBS Letters 300:275-278.

Aimar-Beurton, M., Korzeniewski, B., Letellier, T., Ludinard, S., Mazat, J. P. and Nazaret, C. (2002). "Virtual mitochondria: metabolic modelling and control." Molecular Biology Reports 29(1-2):227-232.

Aitken, R. J., Baker, M. A. and Sawyer, D. (2003). "Oxidative stress in the male germ line and its role in the aetiology of male infertility and genetic disease." Reproductive Biomedicine Online 7(1):65-70.

Akiyama, S., Endo, H., Inohara, N., Ohta, S. and Kagawa, Y. (1994). "Gene structure and cell type-specific expression of the human ATP synthase alpha subunit." Biochimica et Biophysica Acta 1219(1):129-140.

Albin, R. L. (1998). "Fuch's corneal dystrophy in a patient with mitochondrial DNA mutations." Journal of Medical Genetics 35(3):258-259.

Albring, M., Griffith, J. and Attardi, G. (1977). "Association of a protein structure of probable membrane derivation with HeLa cell mitochondrial DNA near its origin of replication." Proceedings of the National Academy of Sciences of the United States of America 74(4):1348-1352.

Alcolado, J. C. and Thomas, A. W. (1995). "Maternally inherited diabetes mellitus: the role of mitochondrial DNA defects." Diabetic Medicine 12(2):102-108.

Alcolado, J. C., Clark, P. M., Rees, A. and Hales, C. N. (1994). "Insulin resistance and impaired glucose tolerance [letter; comment]." Lancet 344(8932):1293-1294.

Alcolado, J. C., Laji, K. and Gill-Randall, R. (2002). "Maternal transmission of diabetes." Diabetic Medicine 19(2):89-98.

Alcolado, J. C., Majid, A., Brockington, M., Sweeney, M. G., Morgan, R., Rees, A., Harding, A. E. and Barnett, A. H. (1994). "Mitochondrial gene defects in patients with NIDDM." Diabetologia 37(4):372-376.

Ali, S. T., Duncan, A. M., Schappert, K., Heng, H. H., Tsui, L. C., Chow, W. and Robinson, B. H. (1993). "Chromosomal localization of the human gene encoding the 51-kDa subunit of mitochondrial complex I (NDUFV1) to 11q13." Genomics 18(2):435-439.

Aliev, G., Seyidova, D., Lamb, B. T., Obrenovich, M. E., Siedlak, S. L., Vinters, H. V., Friedland, R. P., LaManna, J. C., Smith, M. A. and Perry, G. (2003). "Mitochondria and vascular lesions as a central target for the development of Alzheimer's disease and Alzheimer disease-like pathology in transgenic mice." Neurological Research 25(6):665-674.

Alizadeh, A. A., Eisen, M. B., Davis, R. E., Ma, C., Lossos, I. S., et al. (2000). "Distinct types of diffuse large B-cell lymphoma identified by gene expression profiling [see comments]." Nature 403(6769):503-511.

Allan, C. J., Argyropoulos, G., Bowker, M., Zhu, J., Lin, P. M., Stiver, K., Golichowski, A. and Garvey, W. T. (1997). "Gestational diabetes mellitus and gene mutations which affect insulin secretion." Diabetes Research & Clinical Practice 36(3):135-141.

Alonso, A., Martin, P., Albarran, C., Aquilera, B., Garcia, O., Guzman, A., Oliva, H. and Sancho, M. (1997). "Detection of somatic mutations in the mitochondrial DNA control region of colorectal and gastric tumors by heteroduplex and single-strand conformation analysis." Electrophoresis 18(5):682-685.

Alonso, A., Salas, A., Albarran, C., Arroyo, E., Castro, A., et al. (2002). "Results of the 1999-2000 collaborative exercise and proficiency testing program on mitochondrial DNA of the GEP-ISFG: an inter-laboratory study of the observed variability in the heteroplasmy level of hair from the same donor." Forensic Science International 125(1):1-7.

Altunbasak, S., Bingol, G., Ozbarlas, N., Akcoren, Z. and Herguner, O. (1998). "Kearns-Sayre syndrome. A case report." Turkish Journal of Pediatrics 40(2):255-259.

Alvarez, V., Corao, A. I., Sanchez-Ferrero, E., De Mena, L., Alonso-Montes, C., Huerta, C., Blazquez, M., Ribacoba, R., Guisasola, L. M., Salvador, C., Garcia-Castro, M. and Coto, E. (2008). "Mitochondrial transcription factor A (TFAM) gene variation in Parkinson's disease." Neuroscience Letters 432(1):79-82.

Alves-Silva, J., da Silva Santos, M., Guimaraes, P. E., Ferreira, A. C., Bandelt, H. J., Pena, S. D. and Prado, V. F. (2000). "The ancestry of Brazilian mtDNA lineages." American Journal of Human Genetics 67(2):444-461.

Alves-Silva, J., Guimaraes, P. E., Rocha, J., Pena, S. D. and Prado, V. F. (1999). "Identification in Portugal and Brazil of a mtDNA lineage containing a 9-bp triplication of the intergenic COII/tRNALys region." Human Heredity 49(1):56-58.

Alves-Silva, J., Santos, M. S., Pena, S. D. and Prado, V. F. (1999). "Multiple geographic sources of region V 9-bp deletion haplotypes in Brazilians." Human Biology 71(2):245-259.

Amara, C. E., Shankland, E. G., Jubrias, S. A., Marcinek, D. J., Kushmerick, M. J. and Conley, K. E. (2007). "Mild mitochondrial uncoupling impacts cellular aging in human muscles in vivo." Proceedings of the National Academy of Sciences of the United States of America 104(3):1057-1062.

Amati-Bonneau, P., Valentino, M. L., Reynier, P., Gallardo, M. E., Bornstein, B., et al. (2008). "OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes." Brain 131(Pt 2):338-351.

Amerik, A., Petukhova, G. V., Grigorenko, V. G., Lykov, I. P., Yarovoi, S. V., Lipkin, V. M. and Gorbalenya, A. E. (1994). "Cloning and sequence analysis of cDNA for a human homolog of eubacterial ATP-dependent Lon proteases." FEBS Letters 340(1-2):25-28.

Ames, B. N., Shigenaga, M. K. and Hagen, T. M. (1993). "Oxidants, antioxidants, and the degenerative diseases of aging." Proceedings of the National Academy of Sciences of the United States of America 90(17):7915-7922.

Ames, B. N., Shigenaga, M. K. and Hagen, T. M. (1995). "Mitochondrial decay in aging." Biochimica et Biophysica Acta 1271(1):165-170.

Anan, R., Nakagawa, M., Miyata, M., Higuchi, I., Nakao, S., Suehara, M., Osame, M. and Tanaka, H. (1995). "Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defect [see Comment: Circulation 15:91(4):1266-1268]." Circulation 91(4):955-961.

Anderson, C., T. and Friedberg, E. C. (1980). "The presence of nuclear and mitochondrial uracil-DNA glycosylase in extracts of human KB cells." Nucleic Acids Research 8(4):875-888.

Anderson, E. C. and Novembre, J. (2003). "Finding haplotype block boundaries by using the minimum-description-length principle." American Journal of Human Genetics 73(2):336-354.

Anderson, S., Bankier, A. T., Barrell, B. G., de Bruijn, M. H., Coulson, A. R., Drouin, J., Eperon, I. C., Nierlich, D. P., Roe, B. A., Sanger, F., Schreier, P. H., Smith, A. J., Staden, R. and Young, I. G. (1981). "Sequence and organization of the human mitochondrial genome." Nature 290(5806):457-465.

Anderson, S., deBruijn, M. H. L., Coulson, A. R., Eperon, I. C., Sanger, F. and Young, I. G. (1982). "Complete sequence of bovine mitochondrial DNA. Conserved features of the mammalian mitochondrial genome." Journal of Molecular Biology 156(4):683-717.

Andersson, S. G., Zomorodipour, A., Andersson, J. O., Sicheritz-Ponten, T., Alsmark, U. C., Podowski, R. M., Naslund, A. K., Eriksson, A. S., Winkler, H. H. and Kurland, C. G. (1998). "The genome sequence of Rickettsia prowazekii and the origin of mitochondria [see comments]." Nature 396(6707):133-140.

Andre, P., Kim, A., Khrapko, K. and Thilly, W. G. (1997). "Fidelity and mutational spectrum of Pfu DNA polymerase on a human mitochondrial DNA sequence." Genome Research 7(8):843-852.

Andreassi, M. G. (2003). "Coronary atherosclerosis and somatic mutations: an overview of the contributive factors for oxidative DNA damage." Mutation Research 543(1):67-86.

Andreu, A. L. and DiMauro, S. (2003). "Current classification of mitochondrial disorders." Journal of Neurology 250(12):1403-1406.

Andreu, A. L., Bruno, C., Dunne, T. C., Tanji, K., Shanske, S., Sue, C. M., Krishna, S., Hadjigeorgiou, G. M., Shtilbans, A., Bonilla, E. and DiMauro, S. (1999). "A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria." Annals of Neurology 45(1):127-130.

Andreu, A. L., Bruno, C., Hadjigeorgiou, G. M., Shanske, S. and DiMauro, S. (1999). "Polymorphic variants in the human mitochondrial cytochrome b gene." Molecular Genetics and Metabolism 67(1):49-52.

Andreu, A. L., Bruno, C., Shanske, S., Shtilbans, A., Hirano, M., Krishna, S., Hayward, L., Systrom, D. S., Brown, R. H., Jr. and DiMauro, S. (1998). "Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy." Neurology 51(5):1444-1447.

Andreu, A. L., Checcarelli, N., Iwata, S., Shanske, S. and DiMauro, S. (2000). "A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy." Pediatric Research 48(3):311-314.

Andreu, A. L., Hanna, M. G., Reichmann, H., Bruno, C., Penn, A. S., Tanji, K., Pallotti, F., Iwata, S., Bonilla, E., Lach, B., Morgan-Hughes, J. and DiMauro, S. (1999). "Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA [see comments]." New England Journal of Medicine 341(14):1037-1044.

Andreu, A. L., Marti, R. and Hirano, M. (2003). "Analysis of human mitochondrial DNA mutations." Methods in Molecular Biology 217:185-197.

Andreu, A. L., Tanji, K., Bruno, C., Hadjigeorgiou, G. M., Sue, C. M., Jay, C., Ohnishi, T., Shanske, S., Bonilla, E. and DiMauro, S. (1999). "Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene." Annals of Neurology 45(6):820-823.

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Andrews, R. M., Kubacka, I., Chinnery, P. F., Lightowlers, R. N., Turnbull, D. M. and Howell, N. (1999). "Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA [letter]." Nature Genetics 23(2):147.

Andrews, R. M., McNeela, B. J., Reading, P., Griffiths, P. G., Chinnery, P. F. and Turnbull, D. M. (1999). "Mitochondrial DNA disease masquerading as age-related mascular degeneration." Eye 13(Pt 4):595-596.

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Antonicka, H., Ogilvie, I., Taivassalo, T., Anitori, R. P., Haller, R. G., Vissing, J., Kennaway, N. G. and Shoubridge, E. A. (2003). "Identification and characterization of a common set of complex I assembly intermediates in mitochondria from patients with complex I deficiency." Journal of Biological Chemistry 278(44):43081-43088.

Antonsson, B., Conti, F., Ciavatta, A., Montessuit, S., Lewis, S., Martinou, I., Bernasconi, L., Bernard, A., Mermod, J. J., Mazzei, G., Maundrell, K., Gambale, F., Sadoul, R. and Martinou, J. C. (1997). "Inhibition of Bax channel-forming activity by Bcl-2." Science 277(5324):370-372.

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Arai, M. and Ohshima, S. (1997). "Maternally inherited diabetes and deafness with cerebellar ataxia: a new clinical phenotype associated with the mitochondrial DNA 3243 mutation [letter]." Journal of Neurology 244(7):468-469.

Arai, T., Nakahara, K., Matsuoka, H., Sawabe, M., Chida, K., Matsushita, S., Takubo, K., Honma, N., Nakamura, K., Izumiyama, N. and Esaki, Y. (2003). "Age-related mitochondrial DNA deletion in human heart: its relationship with cardiovascular diseases." Aging-Clinical and Experimental Research 15(1):1-5.

Aral, C., Kaya, H., Ataizi-Celikel, C., Akkiprik, M., Sonmez, O., Gulluoglu, B. M. and Ozer, A. (2006). "A novel approach for rapid screening of mitochondrial D310 polymorphism." BMC Cancer 6:21.

Arbustini, E., Diegoli, M., Fasani, R., Grasso, M., Morbini, P., Banchieri, N., Bellini, O., Dal Bello, B., Pilotto, A., Magrini, G., Campana, C., Fortina, P., Gavazzi, A., Narula, J. and Vigano, M. (1998). "Mitochondrial DNA mutations and mitochondrial abnormalities in dilated cardiomyopathy." American Journal of Pathology 153(5):1501-1510.

Arbustini, E., Fasani, R., Morbini, P., Diegoli, M., Grasso, M., Dal Bello, B., Marangoni, E., Banfi, P., Banchieri, N., Bellini, O., Comi, G., Narula, J., Campana, C., Gavazzi, A., Danesino, C. and Vigano, M. (1998). "Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure [published erratum appears in Heart 1999 Mar;81(3):330]." Heart 80(6):548-558.

Ardissino, D., Merlini, P. A., Savonitto, S., Demicheli, G., Zanini, P., Bertocchi, F., Falcone, C., Ghio, S., Marinoni, G., Montemartini, C. and Mussini, A. (1997). "Effect of transdermal nitroglycerin or N-acetylcysteine, or both, in the long-term treatment of unstable angina pectoris." Journal of the American College of Cardiology 29(5):941-947.

Arenas, J., Campos, Y., Bornstein, B., Ribacoba, R., Martin, M. A., Rubio, J. C., Santorelli, F. M., Zeviani, M., DiMauro, S. and Garesse, R. (1999). "A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA (Lys) gene associated with myoclonus epilepsy with ragged-red fibers." Neurology 52(2):377-382.

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