Gene Review:
DMPK - dystrophia myotonica-protein kinase
Homo sapiens
Synonyms:
DM, DM-kinase, DM1, DM1 protein kinase, DM1PK, ...
Mahadevan,
Yadava,
Yu,
Balijepalli,
Frenzel-McCardell,
Bourne,
Phillips,
Phylactou,
Darrah,
Wood,
Quibell,
Benn,
Flinn,
Monk,
Ramjee,
Ray,
Wang,
Watts,
Sasagawa,
Kino,
Takeshita,
Oma,
Ishiura,
Erginel-Unaltuna,
Akbas,
Vielhaber,
Jakubiczka,
Gaul,
Schoenfeld,
Debska-Vielhaber,
Zierz,
Heinze,
Niessen,
Kaufmann,
- Reversible model of RNA toxicity and cardiac conduction defects in myotonic dystrophy. Mahadevan, M.S., Yadava, R.S., Yu, Q., Balijepalli, S., Frenzel-McCardell, C.D., Bourne, T.D., Phillips, L.H. Nat. Genet. (2006)
- Long CTG tracts from the myotonic dystrophy gene induce deletions and rearrangements during recombination at the APRT locus in CHO cells. Meservy, J.L., Sargent, R.G., Iyer, R.R., Chan, F., McKenzie, G.J., Wells, R.D., Wilson, J.H. Mol. Cell. Biol. (2003)
- Myotonic dystrophy: tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression. Korade-Mirnics, Z., Tarleton, J., Servidei, S., Casey, R.R., Gennarelli, M., Pegoraro, E., Angelini, C., Hoffman, E.P. Hum. Mol. Genet. (1999)
- Viral vector producing antisense RNA restores myotonic dystrophy myoblast functions. Furling, D., Doucet, G., Langlois, M.A., Timchenko, L., Belanger, E., Cossette, L., Puymirat, J. Gene Ther. (2003)
- Effect of triplet repeat expansion on chromatin structure and expression of DMPK and neighboring genes, SIX5 and DMWD, in myotonic dystrophy. Frisch, R., Singleton, K.R., Moses, P.A., Gonzalez, I.L., Carango, P., Marks, H.G., Funanage, V.L. Mol. Genet. Metab. (2001)
- A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24. Le Ber, I., Martinez, M., Campion, D., Laquerrière, A., Bétard, C., Bassez, G., Girard, C., Saugier-Veber, P., Raux, G., Sergeant, N., Magnier, P., Maisonobe, T., Eymard, B., Duyckaerts, C., Delacourte, A., Frebourg, T., Hannequin, D. Brain (2004)
- The pleiotropic expression of the myotonic dystrophy protein kinase gene illustrates the complex relationships between genetic, biological and clinical covariates of male aging. Brisson, D., Houde, G., St-Pierre, J., Vohl, M.C., Mathieu, J., Gaudet, D. The aging male : the official journal of the International Society for the Study of the Aging Male. (2002)
- Cognitive impairment in adult myotonic dystrophies: a longitudinal study. Sansone, V., Gandossini, S., Cotelli, M., Calabria, M., Zanetti, O., Meola, G. Neurol. Sci. (2007)
- A single trinucleotide, 5'AGC3'/5'GCT3', of the triplet-repeat disease genes confers metal ion-induced non-B DNA structure. Kohwi, Y., Wang, H., Kohwi-Shigematsu, T. Nucleic Acids Res. (1993)
- Personality patterns in patients with myotonic dystrophy. Delaporte, C. Arch. Neurol. (1998)
- CTCF-binding sites flank CTG/CAG repeats and form a methylation-sensitive insulator at the DM1 locus. Filippova, G.N., Thienes, C.P., Penn, B.H., Cho, D.H., Hu, Y.J., Moore, J.M., Klesert, T.R., Lobanenkov, V.V., Tapscott, S.J. Nat. Genet. (2001)
- Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Savkur, R.S., Philips, A.V., Cooper, T.A. Nat. Genet. (2001)
- Ribozyme-mediated trans-splicing of a trinucleotide repeat. Phylactou, L.A., Darrah, C., Wood, M.J. Nat. Genet. (1998)
- Hyper-CK-emia as the sole manifestation of myotonic dystrophy type 2. Merlini, L., Sabatelli, P., Columbaro, M., Bonifazi, E., Pisani, V., Massa, R., Novelli, G. Muscle Nerve (2005)
- Synthesis and evaluation of cis-hexahydropyrrolo[3,2-b]pyrrol-3-one peptidomimetic inhibitors of CAC1 cysteinyl proteinases. Quibell, M., Benn, A., Flinn, N., Monk, T., Ramjee, M., Ray, P., Wang, Y., Watts, J. Bioorg. Med. Chem. (2005)
- Improved method for molecular diagnosis of myotonic dystrophy type 1 (DM1). Erginel-Unaltuna, N., Akbas, F. J. Clin. Lab. Anal. (2004)
- Transgenic overexpression of human DMPK accumulates into hypertrophic cardiomyopathy, myotonic myopathy and hypotension traits of myotonic dystrophy. O'Cochlain, D.F., Perez-Terzic, C., Reyes, S., Kane, G.C., Behfar, A., Hodgson, D.M., Strommen, J.A., Liu, X.K., van den Broek, W., Wansink, D.G., Wieringa, B., Terzic, A. Hum. Mol. Genet. (2004)
- Brain 1H magnetic resonance spectroscopic differences in myotonic dystrophy type 2 and type 1. Vielhaber, S., Jakubiczka, S., Gaul, C., Schoenfeld, M.A., Debska-Vielhaber, G., Zierz, S., Heinze, H.J., Niessen, H.G., Kaufmann, J. Muscle Nerve (2006)
- Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene. Thornton, C.A., Wymer, J.P., Simmons, Z., McClain, C., Moxley, R.T. Nat. Genet. (1997)
- Fragile-X syndrome and myotonic dystrophy: parallels and paradoxes. Tapscott, S.J., Klesert, T.R., Widrow, R.J., Stöger, R., Laird, C.D. Curr. Opin. Genet. Dev. (1998)
- Characterization of a monoclonal antibody panel shows that the myotonic dystrophy protein kinase, DMPK, is expressed almost exclusively in muscle and heart. Lam, L.T., Pham, Y.C., Nguyen, T.M., Morris, G.E. Hum. Mol. Genet. (2000)
- Changes in myotonic dystrophy protein kinase levels and muscle development in congenital myotonic dystrophy. Furling, D., Lam, l.e. .T., Agbulut, O., Butler-Browne, G.S., Morris, G.E. Am. J. Pathol. (2003)
- MKBP, a novel member of the small heat shock protein family, binds and activates the myotonic dystrophy protein kinase. Suzuki, A., Sugiyama, Y., Hayashi, Y., Nyu-i, N., Yoshida, M., Nonaka, I., Ishiura, S., Arahata, K., Ohno, S. J. Cell Biol. (1998)
- Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes. Hamshere, M.G., Newman, E.E., Alwazzan, M., Athwal, B.S., Brook, J.D. Proc. Natl. Acad. Sci. U.S.A. (1997)
- Characterization of the expression of DMPK and SIX5 in the human eye and implications for pathogenesis in myotonic dystrophy. Winchester, C.L., Ferrier, R.K., Sermoni, A., Clark, B.J., Johnson, K.J. Hum. Mol. Genet. (1999)
- Localization of myotonic dystrophy protein kinase in human and rabbit tissues using a new panel of monoclonal antibodies. Pham, Y.C., Man, N., Lam, L.T., Morris, G.E. Hum. Mol. Genet. (1998)
- Myotonic dystrophy protein kinase domains mediate localization, oligomerization, novel catalytic activity, and autoinhibition. Bush, E.W., Helmke, S.M., Birnbaum, R.A., Perryman, M.B. Biochemistry (2000)
- Homodimerization through coiled-coil regions enhances activity of the myotonic dystrophy protein kinase. Zhang, R., Epstein, H.F. FEBS Lett. (2003)
- Myotonic dystrophy protein kinase phosphorylates the myosin phosphatase targeting subunit and inhibits myosin phosphatase activity. Murányi, A., Zhang, R., Liu, F., Hirano, K., Ito, M., Epstein, H.F., Hartshorne, D.J. FEBS Lett. (2001)
- Overexpression of human myotonic dystrophy protein kinase in Schizosaccharomyces pombe induces an abnormal polarized and swollen cell morphology. Sasagawa, N., Kino, Y., Takeshita, Y., Oma, Y., Ishiura, S. J. Biochem. (2003)
- Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy. Timchenko, L.T., Miller, J.W., Timchenko, N.A., DeVore, D.R., Datar, K.V., Lin, L., Roberts, R., Caskey, C.T., Swanson, M.S. Nucleic Acids Res. (1996)
- Rac-1 and Raf-1 kinases, components of distinct signaling pathways, activate myotonic dystrophy protein kinase. Shimizu, M., Wang, W., Walch, E.T., Dunne, P.W., Epstein, H.F. FEBS Lett. (2000)
- HnRNP H inhibits nuclear export of mRNA containing expanded CUG repeats and a distal branch point sequence. Kim, D.H., Langlois, M.A., Lee, K.B., Riggs, A.D., Puymirat, J., Rossi, J.J. Nucleic Acids Res. (2005)
- Calreticulin interacts with C/EBPalpha and C/EBPbeta mRNAs and represses translation of C/EBP proteins. Timchenko, L.T., Iakova, P., Welm, A.L., Cai, Z.J., Timchenko, N.A. Mol. Cell. Biol. (2002)
- Altered phosphorylation and intracellular distribution of a (CUG)n triplet repeat RNA-binding protein in patients with myotonic dystrophy and in myotonin protein kinase knockout mice. Roberts, R., Timchenko, N.A., Miller, J.W., Reddy, S., Caskey, C.T., Swanson, M.S., Timchenko, L.T. Proc. Natl. Acad. Sci. U.S.A. (1997)
- Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Liquori, C.L., Ricker, K., Moseley, M.L., Jacobsen, J.F., Kress, W., Naylor, S.L., Day, J.W., Ranum, L.P. Science (2001)
- MBNL1 and CUGBP1 modify expanded CUG-induced toxicity in a Drosophila model of myotonic dystrophy type 1. de Haro, M., Al-Ramahi, I., De Gouyon, B., Ukani, L., Rosa, A., Faustino, N.A., Ashizawa, T., Cooper, T.A., Botas, J. Hum. Mol. Genet. (2006)
- PROMM: the expanding phenotype. A family with proximal myopathy, myotonia and deafness. Phillips, M.F., Rogers, M.T., Barnetson, R., Braun, C., Harley, H.G., Myring, J., Stevens, D., Wiles, C.M., Harper, P.S. Neuromuscul. Disord. (1998)