Gene Review:
MELAS - mitochondrial encephalomyopathy, lactic...
Homo sapiens
This record was discontinued.
- A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Goto, Y., Nonaka, I., Horai, S. Nature (1990)
- A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I. Lertrit, P., Noer, A.S., Jean-Francois, M.J., Kapsa, R., Dennett, X., Thyagarajan, D., Lethlean, K., Byrne, E., Marzuki, S. Am. J. Hum. Genet. (1992)
- Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects. Anan, R., Nakagawa, M., Miyata, M., Higuchi, I., Nakao, S., Suehara, M., Osame, M., Tanaka, H. Circulation (1995)
- HMPAO-SPECT imaging resembling Alzheimer-type dementia in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS). Grünwald, F., Zierz, S., Broich, K., Schumacher, S., Bockisch, A., Biersack, H.J. J. Nucl. Med. (1990)
- Familial occurrence of intestinal obstruction in children with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). Shimotake, T., Furukawa, T., Inoue, K., Iwai, N., Takeuchi, Y. J. Pediatr. Surg. (1998)
- Therapeutic effect of sodium dichloroacetate on visual and auditory hallucinations in a patient with MELAS. Saijo, T., Naito, E., Ito, M., Takeda, E., Hashimoto, T., Kuroda, Y. Neuropediatrics. (1991)
- Aggressive confusional state as a clinical manifestation of status epilepticus in MELAS. Feddersen, B., Bender, A., Arnold, S., Klopstock, T., Noachtar, S. Neurology (2003)
- Mitochondrial DNA sequence analysis of patients with 'atypical psychosis'. Kazuno, A.A., Munakata, K., Mori, K., Tanaka, M., Nanko, S., Kunugi, H., Umekage, T., Tochigi, M., Kohda, K., Sasaki, T., Akiyama, T., Washizuka, S., Kato, N., Kato, T. Psychiatry and clinical neurosciences. (2005)
- Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies. Hess, J.F., Parisi, M.A., Bennett, J.L., Clayton, D.A. Nature (1991)
- Papillomas on fish exposed to chlorinated wastewater effluent. Grizzle, J.M., Melius, P., Strength, D.R. J. Natl. Cancer Inst. (1984)
- Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns-Sayre/MELAS overlap syndrome and A3243G mtDNA mutation. Wilichowski, E., Korenke, G.C., Ruitenbeek, W., De Meirleir, L., Hagendorff, A., Janssen, A.J., Lissens, W., Hanefeld, F. J. Neurol. Sci. (1998)
- Strongly succinate dehydrogenase-reactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Hasegawa, H., Matsuoka, T., Goto, Y., Nonaka, I. Ann. Neurol. (1991)
- Effects of dichloroacetate in three patients with MELAS. Saitoh, S., Momoi, M.Y., Yamagata, T., Mori, Y., Imai, M. Neurology (1998)
- Mutations of the mitochondrial genome: clinical overview and possible pathophysiology of cell damage. Rothman, S.M. Biochem. Soc. Symp. (1999)
- Cerebral hyperemia in MELAS. Gropen, T.I., Prohovnik, I., Tatemichi, T.K., Hirano, M. Stroke (1994)
- Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. King, M.P., Koga, Y., Davidson, M., Schon, E.A. Mol. Cell. Biol. (1992)
- Mitochondrial DNA and RNA processing in MELAS. Kaufmann, P., Koga, Y., Shanske, S., Hirano, M., DiMauro, S., King, M.P., Schon, E.A. Ann. Neurol. (1996)
- The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS. Pulkes, T., Eunson, L., Patterson, V., Siddiqui, A., Wood, N.W., Nelson, I.P., Morgan-Hughes, J.A., Hanna, M.G. Ann. Neurol. (1999)
- Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations? Liolitsa, D., Rahman, S., Benton, S., Carr, L.J., Hanna, M.G. Ann. Neurol. (2003)
- Mitochondrial DNA expression in mitochondrial myopathies and coordinated expression of nuclear genes involved in ATP production. Heddi, A., Lestienne, P., Wallace, D.C., Stepien, G. J. Biol. Chem. (1993)
- Advanced telomere shortening in respiratory chain disorders. Oexle, K., Zwirner, A. Hum. Mol. Genet. (1997)
- Neuropathy associated with mitochondrial disorders. Schröder, J.M. Brain Pathol. (1993)
- Quantification of OXPHOS gene transcripts during muscle cell differentiation in patients with mitochondrial myopathies. Bonod-Bidaud, C., Giraud, S., Mandon, G., Mousson, B., Stepien, G. Exp. Cell Res. (1999)
- SPECT findings in mitochondrial encephalomyopathy. Watanabe, Y., Hashikawa, K., Moriwaki, H., Oku, N., Seike, Y., Kodaka, R., Ono, J., Uehara, T., Kusuoka, H., Nishimura, T. J. Nucl. Med. (1998)
- Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. Santorelli, F.M., Tanji, K., Kulikova, R., Shanske, S., Vilarinho, L., Hays, A.P., DiMauro, S. Biochem. Biophys. Res. Commun. (1997)
- Proton MR spectroscopic characterization of differences in regional brain metabolic abnormalities in mitochondrial encephalomyopathies. Mathews, P.M., Andermann, F., Silver, K., Karpati, G., Arnold, D.L. Neurology (1993)
- mtDNA mutations confer cellular sensitivity to oxidant stress that is partially rescued by calcium depletion and cyclosporin A. Wong, A., Cortopassi, G. Biochem. Biophys. Res. Commun. (1997)
- Mitochondrial gene mutations that affect the binding of the termination factor and their prevalence among Japanese diabetes mellitus. Odawara, M., Asano, M., Yamashita, K. Nucleic Acids Symp. Ser. (1995)
- A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients. Corona, P., Antozzi, C., Carrara, F., D'Incerti, L., Lamantea, E., Tiranti, V., Zeviani, M. Ann. Neurol. (2001)
- An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome. Ravn, K., Wibrand, F., Hansen, F.J., Horn, N., Rosenberg, T., Schwartz, M. Eur. J. Hum. Genet. (2001)
- MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts. Chomyn, A., Martinuzzi, A., Yoneda, M., Daga, A., Hurko, O., Johns, D., Lai, S.T., Nonaka, I., Angelini, C., Attardi, G. Proc. Natl. Acad. Sci. U.S.A. (1992)
- A novel combination of mitochondrial tRNA and ND1 gene mutations in a syndrome with MELAS, cardiomyopathy, and diabetes mellitus. Jaksch, M., Hofmann, S., Kaufhold, P., Obermaier-Kusser, B., Zierz, S., Gerbitz, K.D. Hum. Mutat. (1996)
- No association of ALDH2 genotype in MELAS. Suzuki, Y., Muramatsu, T., Taniyama, M., Goto, Y., Oka, Y., Suzuki, S., Tsukuda, K., Atsumi, Y., Nonaka, I., Hosokawa, K., Shimada, A., Asahina, T., Matsuoka, K. Diabetologia (1997)
- Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. Pavlakis, S.G., Phillips, P.C., DiMauro, S., De Vivo, D.C., Rowland, L.P. Ann. Neurol. (1984)
- EEG findings in children and adolescents with mitochondrial encephalomyopathies: a study of 25 cases. Tulinius, M.H., Hagne, I. Brain Dev. (1991)
- The molecular genetics of mitochondrial cytopathies: the Melbourne experience. Thyagarajan, D., Byrne, E., Dennet, X., Marzuki, S. Clinical and experimental neurology. (1992)
- Prenatal diagnosis of myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome: contribution to understanding mitochondrial DNA segregation during human embryofetal development. Bouchet, C., Steffann, J., Corcos, J., Monnot, S., Paquis, V., R??tig, A., Lebon, S., Levy, P., Royer, G., Giurgea, I., Gigarel, N., Benachi, A., Dumez, Y., Munnich, A., Bonnefont, J.P. J. Med. Genet. (2006)
- Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study. Rahman, S., Poulton, J., Marchington, D., Suomalainen, A. Am. J. Hum. Genet. (2001)