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NTIS 바로가기생명과학회지 = Journal of life science, v.30 no.8, 2020년, pp.672 - 679
김혜진 (성균관대학교 삼성융합의과학원 융합의과학과) , 남수현 (삼성서울병원 줄기세포 재생의학 연구소) , 김상범 (강동경희대학교 의과대학 신경과학교실) , 정기화 (공주대학교 생명과학과) , 최병옥 (성균관대학교 삼성융합의과학원 융합의과학과)
Distal myopathy is a clinically and genetically heterogeneous group of degenerative diseases of the distal muscle. Glycogen storage disease type IXD (GSD9D) is a metabolic distal myopathy characterized by muscle deficiency of phosphorylase kinase, a key regulatory enzyme in glycogen metabolism. Affe...
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Bruno, C., Manfredi, G., Andreu, A. L., Shanske, S., Krishna, S., Ilse, W. K. and DiMauro, S. 1998. A splice junction mutation in the alpha(M) gene of phosphorylase kinase in a patient with myopathy. Biochem. Biophys. Res. Commun. 249, 648-651.
Brushia, R. J. and Walsh, D. A. 1999. Phosphorylase kinase: the complexity of its regulation is reflected in the complexity of its structure. Front. Biosci. 4, D618-641.
Burwinkel, B, Hu, B., Schroers, A., Clemens, P. R., Moses, S. W., Shin, Y. S., Pongratz, D., Vorgerd, M. and Kilimann, M. W. 2003. Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases. Eur. J. Hum. Genet. 11, 516-526.
Burwinkel, B., Maichele, A. J, Aagenaes, O., Bakker, H. D., Lerner, A., Shin, Y. S., Strachan, J. A. and Kilimann, M. W. 1997. Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB). Hum. Mol. Genet. 6, 1109-1115.
Choi, R., Park, H. D., Kang, B., Choi, S. Y., Ki, C. S., Lee, S. Y., Kim, J. W., Song, J. and Choe, Y. H. 2016. PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations. BMC. Med. Genet. 17, 33.
Clemens, P. R., Yamamoto, M. and Engel, A. G. 1990. Adult phosphorylase b kinase deficiency. Ann. Neurol. 28, 529-538.
Dimachkie, M. M. and Barohn, R. J. 2014. Distal myopathies. Neurol. Clin. 32, 817-842.
Echaniz-Laguna, A., Akman, H. O., Mohr, M., Tranchant, C., Talmant-Verbist, V., Rolland, M. O. and Dimauro, S. 2010. Muscle phosphorylase B kinase deficiency revisited. Neuromuscul. Disord. 20, 125-127.
Harding, A. E. and Thomas, P. K. 1980. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 103, 259-280.
Harmann, B., Zander, N. F. and Kilimann, M. W. 1991. Isoform diversity of phosphorylase kinase alpha and beta subunits generated by alternative RNA splicing. J. Biol. Chem. 266, 15631-15637.
Hendrickx, J., Coucke, P., Dams, E., Lee, P., Odievre, M., Corbeel, L., Fernandes, J. F. and Willems, P. J. 1995. Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease. Hum. Mol. Genet. 4, 77-83.
Koller, M., Schnyder, B. and Strehler, E. E. 1990. Structural organization of the human CaMIII calmodulin gene. Biochim. Biophys. Acta. 1087, 180-189.
Maichele, A. J., Burwinkel, B., Maire, I., Sovik, O. and Kilimann, M. W. 1996. Mutations in the testis/liver isoform of the phosphorylase kinase $\gamma$ subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans. Nat. Genet. 14, 337-340.
Mastaglia, F. L. and Laing, N. G. 1999. Distal myopathies: clinical and molecular diagnosis and classification. J. Neurol. Neurosurg. Psychiatry 67, 703-707.
Orngreen, M. C., Schelhaas, H. J., Jeppesen, T. D., Akman, H. O., Wevers, R. A., Andersen, S. T., ter Laak, H. J., van Diggelen, O. P., DiMauro, S. and Vissing, J. 2008. Is muscle glycogenolysis impaired in X-linked phosphorylase B kinase deficiency? Neurology 70, 1876-1882.
Pegues, J. C. and Friedberg, F. 1990. Multiple mRNAs encoding human calmodulin. Biochem. Biophys. Res. Commun. 172, 1145-1149.
Preisler, N., Orngreen, M. C., Echaniz-Laguna, A., Laforet, P., Lonsdorfer-Wolf, E., Doutreleau, S., Geny, B., Akman, H. O., Dimauro, S. and Vissing, J. 2012. Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease? Neurology 78, 265-268.
Schneider, A., Davidson, J. J., Wullrich, A. and Kilimann, M. W. 1993. Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the alpha subunit muscle isoform. Nat. Genet. 5, 381-385.
Wehner, M. and Kilimann, M. W. 1995. Human cDNA encoding the muscle isoform of the phosphorylase kinase $\gamma$ subunit (PHKG1). Hum. Genet. 96, 616-618.
Wehner, M., Clemens, P. R., Engel, A. G. and Kilimann, M. W. 1994. Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit. Hum. Mol. Genet. 3, 1983-1987.
Wuyts, W., Reyniers, E., Ceuterick, C., Storm, K., de Barsy, T. and Martin, J. J. 2005. Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene. Am. J. Med. Genet. A. 133A, 82-84.
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