Gene Review:
KSS - Kearns-Sayre syndrome
Homo sapiens
This record was discontinued.
- Diagnostic screening of mitochondrial DNA mutations in Australian adults 1990-2001. Marotta, R., Chin, J., Quigley, A., Katsabanis, S., Kapsa, R., Byrne, E., Collins, S. Internal medicine journal. (2004)
- 99mTc-HMPAO brain single photon emission computerized tomography in mitochondrial encephalomyopathies. Yen, T.C., Yeh, S.H. Zhonghua Yi Xue Za Zhi (Taipei) (1995)
- 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)
- Kearns-Sayre syndrome with features of Pearson's marrow-pancreas syndrome and a novel 2905-base pair mitochondrial DNA deletion. Becher, M.W., Wills, M.L., Noll, W.W., Hurko, O., Price, D.L. Hum. Pathol. (1999)
- Energy metabolism in disorders of the nervous system. Blass, J.P., Sheu, R.K., Cedarbaum, J.M. Rev. Neurol. (Paris) (1988)
- Mitochondrial DNA deletions inhibit proteasomal activity and stimulate an autophagic transcript. Alemi, M., Prigione, A., Wong, A., Schoenfeld, R., Dimauro, S., Hirano, M., Taroni, F., Cortopassi, G. Free Radic. Biol. Med. (2007)
- A controlled intervention study on the effects of a very rapidly forward rotating shift system on sleep-wakefulness and well-being among young and elderly shift workers. Härmä, M., Tarja, H., Irja, K., Mikael, S., Jussi, V., Anne, B., Pertti, M. International journal of psychophysiology : official journal of the International Organization of Psychophysiology. (2006)
- Hypersomnia, bithalamic lesions, and altered sleep architecture in Kearns-Sayre syndrome. Kotagal, S., Archer, C.R., Walsh, J.K., Gomez, C. Neurology (1985)
- Fatal metabolic acidosis, hyperglycemia, and coma after steroid therapy for Kearns-Sayre syndrome. Curless, R.G., Flynn, J., Bachynski, B., Gregorios, J.B., Benke, P., Cullen, R. Neurology (1986)
- Cerebral folate deficiency. Ramaekers, V.T., Blau, N. Developmental medicine and child neurology. (2004)
- Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression. Wang, J., Wilhelmsson, H., Graff, C., Li, H., Oldfors, A., Rustin, P., Brüning, J.C., Kahn, C.R., Clayton, D.A., Barsh, G.S., Thorén, P., Larsson, N.G. Nat. Genet. (1999)
- Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions. Moraes, C.T., Ricci, E., Petruzzella, V., Shanske, S., DiMauro, S., Schon, E.A., Bonilla, E. Nat. Genet. (1992)
- Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. Moraes, C.T., DiMauro, S., Zeviani, M., Lombes, A., Shanske, S., Miranda, A.F., Nakase, H., Bonilla, E., Werneck, L.C., Servidei, S. N. Engl. J. Med. (1989)
- A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Goto, Y., Nonaka, I., Horai, S. Nature (1990)
- 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)
- A novel mitochondrial tRNA(Leu(UUR)) mutation in a patient with features of MERRF and Kearns-Sayre syndrome. Nishigaki, Y., Tadesse, S., Bonilla, E., Shungu, D., Hersh, S., Keats, B.J., Berlin, C.I., Goldberg, M.F., Vockley, J., DiMauro, S., Hirano, M. Neuromuscul. Disord. (2003)
- Kearns-Sayre syndrome with reduced plasma and cerebrospinal fluid folate. Allen, R.J., DiMauro, S., Coulter, D.L., Papadimitriou, A., Rothenberg, S.P. Ann. Neurol. (1983)
- Clinical and biochemical correlations in mitochondrial myopathies treated with coenzyme Q10. Bresolin, N., Bet, L., Binda, A., Moggio, M., Comi, G., Nador, F., Ferrante, C., Carenzi, A., Scarlato, G. Neurology (1988)
- The expanding clinical spectrum of mitochondrial diseases. De Vivo, D.C. Brain Dev. (1993)
- A unique 3.5-kb deletion of the mitochondrial genome in Thai patients with Kearns-Sayre syndrome. Lertrit, P., Imsumran, A., Karnkirawattana, P., Devahasdin, V., Sangruchi, T., Atchaneeyasakul, L., Mungkornkarn, C., Neungton, N. Hum. Genet. (1999)
- Kearns-Sayre syndrome case presenting a mitochondrial DNA deletion with unusual direct repeats and a rudimentary RNAase mitochondrial ribonucleotide processing target sequence. Remes, A.M., Peuhkurinen, K.J., Herva, R., Majamaa, K., Hassinen, I.E. Genomics (1993)
- Deletion in blood mitochondrial DNA in Kearns-Sayre syndrome. Fischel-Ghodsian, N., Bohlman, M.C., Prezant, T.R., Graham, J.M., Cederbaum, S.D., Edwards, M.J. Pediatr. Res. (1992)
- Retinal manifestations in mitochondrial diseases associated with mitochondrial DNA mutation. Isashiki, Y., Nakagawa, M., Ohba, N., Kamimura, K., Sakoda, Y., Higuchi, I., Izumo, S., Osame, M. Acta ophthalmologica Scandinavica. (1998)
- 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)
- Neuropathy associated with mitochondrial disorders. Schröder, J.M. Brain Pathol. (1993)
- 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)
- 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)
- Treatment of Kearns-Sayre syndrome with coenzyme Q10. Ogasahara, S., Nishikawa, Y., Yorifuji, S., Soga, F., Nakamura, Y., Takahashi, M., Hashimoto, S., Kono, N., Tarui, S. Neurology (1986)
- Kearns-sayre syndrome: oncocytic transformation of choroid plexus epithelium. Tanji, K., Schon, E.A., DiMauro, S., Bonilla, E. J. Neurol. Sci. (2000)
- Oxidative damage to skeletal muscle DNA from patients with mitochondrial encephalomyopathies. Mitsui, T., Kawai, H., Nagasawa, M., Kunishige, M., Akaike, M., Kimura, Y., Saito, S. J. Neurol. Sci. (1996)
- Evidence for cardioembolic stroke in a case of Kearns-Sayre syndrome. Kosinski, C., Mull, M., Lethen, H., Töpper, R. Stroke (1995)
- Beneficial effects of creatine, CoQ(10), and lipoic acid in mitochondrial disorders. Rodriguez, M.C., Macdonald, J.R., Mahoney, D.J., Parise, G., Beal, M.F., Tarnopolsky, M.A. Muscle Nerve (2007)
- EEG findings in children and adolescents with mitochondrial encephalomyopathies: a study of 25 cases. Tulinius, M.H., Hagne, I. Brain Dev. (1991)
- Overexpressions of myoglobin and antioxidant enzymes in ragged-red fibers of skeletal muscle from patients with mitochondrial encephalomyopathy. Kunishige, M., Mitsui, T., Akaike, M., Kawajiri, M., Shono, M., Kawai, H., Matsumoto, T. Muscle Nerve (2003)
- Mitochondrial DNA, diabetes and pancreatic pathology in Kearns-Sayre syndrome. Poulton, J., O'Rahilly, S., Morten, K.J., Clark, A. Diabetologia (1995)
- Cricopharyngeal achalasia is a common cause of dysphagia in patients with mtDNA deletions. Kornblum, C., Broicher, R., Walther, E., Seibel, P., Reichmann, H., Klockgether, T., Herberhold, C., Schröder, R. Neurology (2001)
- Mitochondrial DNA deletion in human oocytes and embryos. Brenner, C.A., Wolny, Y.M., Barritt, J.A., Matt, D.W., Munné, S., Cohen, J. Mol. Hum. Reprod. (1998)
- Disconnection of cerebellar Purkinje cells in Kearns-Sayre syndrome. Tanji, K., DiMauro, S., Bonilla, E. J. Neurol. Sci. (1999)