Myotonic dystrophy protein kinase

Myotonic dystrophy protein kinase

Dystrophia myotonica-protein kinase, also known as DMPK, is a human gene.

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summary_text = The protein encoded by this gene is a serine-threonine kinase that is closely related to other kinases that interact with members of the Rho family of small GTPases. Substrates for this enzyme include myogenin, the beta-subunit of the L-type calcium channels, and phospholemman. The 3' untranslated region of this gene contains 5-37 copies of a CTG trinucleotide repeat. Expansion of this unstable motif to 50-5,000 copies causes myotonic dystrophy type I, which increases in severity with increasing repeat element copy number. Repeat expansion is associated with condensation of local chromatin structure that disrupts the expression of genes in this region. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.cite web | title = Entrez Gene: DMPK dystrophia myotonica-protein kinase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1760| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Groenen P, Wieringa B |title=Expanding complexity in myotonic dystrophy. |journal=Bioessays |volume=20 |issue= 11 |pages= 901–12 |year= 1999 |pmid= 9872056 |doi= 10.1002/(SICI)1521-1878(199811)20:11<901::AID-BIES5>3.0.CO;2-0 |doilabel=10.1002/(SICI)1521-1878(199811)20:11901::AID-BIES53.0.CO;2-0
*cite journal | author=Jansen G, Mahadevan M, Amemiya C, "et al." |title=Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs. |journal=Nat. Genet. |volume=1 |issue= 4 |pages= 261–6 |year= 1993 |pmid= 1302022 |doi= 10.1038/ng0792-261
*cite journal | author=Tsilfidis C, MacKenzie AE, Mettler G, "et al." |title=Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy. |journal=Nat. Genet. |volume=1 |issue= 3 |pages= 192–5 |year= 1993 |pmid= 1303233 |doi= 10.1038/ng0692-192
*cite journal | author=Brook JD, McCurrach ME, Harley HG, "et al." |title=Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. |journal=Cell |volume=68 |issue= 4 |pages= 799–808 |year= 1992 |pmid= 1310900 |doi=
*cite journal | author=Mahadevan M, Tsilfidis C, Sabourin L, "et al." |title=Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene. |journal=Science |volume=255 |issue= 5049 |pages= 1253–5 |year= 1992 |pmid= 1546325 |doi=
*cite journal | author=Fu YH, Pizzuti A, Fenwick RG, "et al." |title=An unstable triplet repeat in a gene related to myotonic muscular dystrophy. |journal=Science |volume=255 |issue= 5049 |pages= 1256–8 |year= 1992 |pmid= 1546326 |doi=
*cite journal | author=Harley HG, Walsh KV, Rundle S, "et al." |title=Localisation of the myotonic dystrophy locus to 19q13.2-19q13.3 and its relationship to twelve polymorphic loci on 19q. |journal=Hum. Genet. |volume=87 |issue= 1 |pages= 73–80 |year= 1991 |pmid= 2037285 |doi=
*cite journal | author=Gennarelli M, Lucarelli M, Zelano G, "et al." |title=Different expression of the myotonin protein kinase gene in discrete areas of human brain. |journal=Biochem. Biophys. Res. Commun. |volume=216 |issue= 2 |pages= 489–94 |year= 1995 |pmid= 7488138 |doi= 10.1006/bbrc.1995.2649
*cite journal | author=Shaw DJ, McCurrach M, Rundle SA, "et al." |title=Genomic organization and transcriptional units at the myotonic dystrophy locus. |journal=Genomics |volume=18 |issue= 3 |pages= 673–9 |year= 1994 |pmid= 7905855 |doi=
*cite journal | author=Sasagawa N, Sorimachi H, Maruyama K, "et al." |title=Expression of a novel human myotonin protein kinase (MtPK) cDNA clone which encodes a protein with a thymopoietin-like domain in COS cells. |journal=FEBS Lett. |volume=351 |issue= 1 |pages= 22–6 |year= 1994 |pmid= 8076686 |doi=
*cite journal | author=van der Ven PF, Jansen G, van Kuppevelt TH, "et al." |title=Myotonic dystrophy kinase is a component of neuromuscular junctions. |journal=Hum. Mol. Genet. |volume=2 |issue= 11 |pages= 1889–94 |year= 1994 |pmid= 8281152 |doi=
*cite journal | author=Carango P, Noble JE, Marks HG, Funanage VL |title=Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy. |journal=Genomics |volume=18 |issue= 2 |pages= 340–8 |year= 1994 |pmid= 8288237 |doi= 10.1006/geno.1993.1474
*cite journal | author=Jansen G, Bartolomei M, Kalscheuer V, "et al." |title=No imprinting involved in the expression of DM-kinase mRNAs in mouse and human tissues. |journal=Hum. Mol. Genet. |volume=2 |issue= 8 |pages= 1221–7 |year= 1993 |pmid= 8401505 |doi=
*cite journal | author=Fu YH, Friedman DL, Richards S, "et al." |title=Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy. |journal=Science |volume=260 |issue= 5105 |pages= 235–8 |year= 1993 |pmid= 8469976 |doi=
*cite journal | author=Mahadevan MS, Amemiya C, Jansen G, "et al." |title=Structure and genomic sequence of the myotonic dystrophy (DM kinase) gene. |journal=Hum. Mol. Genet. |volume=2 |issue= 3 |pages= 299–304 |year= 1993 |pmid= 8499920 |doi=
*cite journal | author=Boucher CA, King SK, Carey N, "et al." |title=A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat. |journal=Hum. Mol. Genet. |volume=4 |issue= 10 |pages= 1919–25 |year= 1996 |pmid= 8595416 |doi=
*cite journal | author=Roberts R, Timchenko NA, Miller JW, "et al." |title=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. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=94 |issue= 24 |pages= 13221–6 |year= 1998 |pmid= 9371827 |doi=
*cite journal | author=Suzuki A, Sugiyama Y, Hayashi Y, "et al." |title=MKBP, a novel member of the small heat shock protein family, binds and activates the myotonic dystrophy protein kinase. |journal=J. Cell Biol. |volume=140 |issue= 5 |pages= 1113–24 |year= 1998 |pmid= 9490724 |doi=
*cite journal | author=Pham YC, Man N, Lam LT, Morris GE |title=Localization of myotonic dystrophy protein kinase in human and rabbit tissues using a new panel of monoclonal antibodies. |journal=Hum. Mol. Genet. |volume=7 |issue= 12 |pages= 1957–65 |year= 1998 |pmid= 9811941 |doi=

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