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Volumn 16, Issue 23, 2007, Pages 2834-2843

Molecular mechanisms responsible for aberrant splicing of SERCA1 in myotonic dystrophy type 1

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM ION; CELL PROTEIN; MESSENGER RNA; MUSCLEBLIND LIKE 1 PROTEIN; PROTEIN MBNL1; PROTEIN SERCA1; RNA BINDING PROTEIN; UNCLASSIFIED DRUG;

EID: 35748965847     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddm239     Document Type: Article
Times cited : (83)

References (37)
  • 2
    • 0026566108 scopus 로고
    • Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member
    • Brook, J.D., McCurrah, M.E., Harley, H.G., Bucker, A.J., Church, D., Aburatani, H., Hunter, K., Stanton, V.P., Thirion, J.-P., Hudson, T. et al. (1992) Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell, 68, 799-808.
    • (1992) Cell , vol.68 , pp. 799-808
    • Brook, J.D.1    McCurrah, M.E.2    Harley, H.G.3    Bucker, A.J.4    Church, D.5    Aburatani, H.6    Hunter, K.7    Stanton, V.P.8    Thirion, J.-P.9    Hudson, T.10
  • 4
    • 0032076126 scopus 로고    scopus 로고
    • Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy
    • Philips, A.V., Timehenko, L.T. and Cooper, T.A. (1998) Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science, 280, 737-741.
    • (1998) Science , vol.280 , pp. 737-741
    • Philips, A.V.1    Timehenko, L.T.2    Cooper, T.A.3
  • 5
    • 0034873099 scopus 로고    scopus 로고
    • Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy
    • Savkur, R.S., Philips, A.V. and Cooper, T.A. (2001) Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat. Genet., 29, 40-47.
    • (2001) Nat. Genet , vol.29 , pp. 40-47
    • Savkur, R.S.1    Philips, A.V.2    Cooper, T.A.3
  • 8
    • 0036347927 scopus 로고    scopus 로고
    • Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing
    • Charlet-B, N., Savkur, R.S., Singh, G., Philips, A.V., Grice, E.A. and Cooper, T.A. (2002) Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. Mol. Cell, 10, 45-53.
    • (2002) Mol. Cell , vol.10 , pp. 45-53
    • Charlet-B, N.1    Savkur, R.S.2    Singh, G.3    Philips, A.V.4    Grice, E.A.5    Cooper, T.A.6
  • 9
    • 0036347525 scopus 로고    scopus 로고
    • Expanded CUG repeats.trigger aberrant splicing of CIC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy
    • Mankodi, A., Takahashi, M.P., Jiang, H., Beck C.L., Bowers, W.J., Moxley, R.T., Cannon, S.C. and Thornton, C.A. (2002) Expanded CUG repeats.trigger aberrant splicing of CIC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Mol. Cell 10, 35-44.
    • (2002) Mol. Cell , vol.10 , pp. 35-44
    • Mankodi, A.1    Takahashi, M.P.2    Jiang, H.3    Beck, C.L.4    Bowers, W.J.5    Moxley, R.T.6    Cannon, S.C.7    Thornton, C.A.8
  • 12
    • 34047219171 scopus 로고    scopus 로고
    • SERCA pump isoforms: Their role in calcium transport and disease
    • Periasamy, M. and Kalyanasundaram, A. (2007) SERCA pump isoforms: Their role in calcium transport and disease. Muscle Nerve, 35, 430-442.
    • (2007) Muscle Nerve , vol.35 , pp. 430-442
    • Periasamy, M.1    Kalyanasundaram, A.2
  • 13
    • 0026588104 scopus 로고
    • Regulation of sarcoplasmic reticulum gene expression during cardiac and skeletal muscle development
    • Arai, M., Otsu, K., MacLennan, D.H. and Periasamy, M. (1992) Regulation of sarcoplasmic reticulum gene expression during cardiac and skeletal muscle development. Am. J. Physiol., 262, C614-C620.
    • (1992) Am. J. Physiol , vol.262
    • Arai, M.1    Otsu, K.2    MacLennan, D.H.3    Periasamy, M.4
  • 14
    • 0022558845 scopus 로고
    • 2+ ATPase genes: Homologies and mechanistic implications of deduced amino acid sequences
    • 2+ ATPase genes: Homologies and mechanistic implications of deduced amino acid sequences. Cell, 44, 597-607.
    • (1986) Cell , vol.44 , pp. 597-607
    • Brandl, C.J.1    Green, N.M.2    Korezak, B.3    MacLennan, D.H.4
  • 17
    • 0030725752 scopus 로고    scopus 로고
    • muscleblind, a gene required for photoreceptor differentiation in Drosophila, encodes novel nuclear CYs3His-type zinc-finger-containing proteins
    • Begemann, G., Paricio, N., Artero, R., Kiss, I., Pérez-Alonso, M. and Mlodzik, M. (1997) muscleblind, a gene required for photoreceptor differentiation in Drosophila, encodes novel nuclear CYs3His-type zinc-finger-containing proteins. Development, 124, 4321-4331.
    • (1997) Development , vol.124 , pp. 4321-4331
    • Begemann, G.1    Paricio, N.2    Artero, R.3    Kiss, I.4    Pérez-Alonso, M.5    Mlodzik, M.6
  • 18
    • 0032520994 scopus 로고    scopus 로고
    • The muscleblind gene participates in the organization of Z-bands and epidermal attachments of Drosophila muscles and is regulated by. Dmef2
    • Artero, R., Prokop, A., Paricio, N., Begemann, G., Pueyo, I., Mlodzik, M., Pérez-Alonso, M. and Baylies, M.K. (1998) The muscleblind gene participates in the organization of Z-bands and epidermal attachments of Drosophila muscles and is regulated by. Dmef2.,Dev. Biol, 195, 131-143.
    • (1998) Dev. Biol , vol.195 , pp. 131-143
    • Artero, R.1    Prokop, A.2    Paricio, N.3    Begemann, G.4    Pueyo, I.5    Mlodzik, M.6    Pérez-Alonso, M.7    Baylies, M.K.8
  • 21
    • 0035394801 scopus 로고    scopus 로고
    • In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts
    • Fardaei, M., Larkin, K., Brook, J.D. and Hamshere, M.G. (2001) In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts. Nucleic Acids Res., 29, 2766-2771.
    • (2001) Nucleic Acids Res , vol.29 , pp. 2766-2771
    • Fardaei, M.1    Larkin, K.2    Brook, J.D.3    Hamshere, M.G.4
  • 22
    • 0036537492 scopus 로고    scopus 로고
    • Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells
    • Fardaei, M., Rogers, M.T., Thorpe, H.M., Larkin, K., Hamshere, M.G., Harper, P.S. and Brook, J.D. (2002) Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells. Hum. Mol. Genet., 11, 805-814.
    • (2002) Hum. Mol. Genet , vol.11 , pp. 805-814
    • Fardaei, M.1    Rogers, M.T.2    Thorpe, H.M.3    Larkin, K.4    Hamshere, M.G.5    Harper, P.S.6    Brook, J.D.7
  • 25
    • 0030043709 scopus 로고    scopus 로고
    • Novel proteins with binding specificity for DNA CTG repeats and RNA CUG repeats: Implications for myotonic dystrophy
    • Timchenko, L.T., Timchenko, N.A., Caskey, C.T. and Roberts, R. (1996) Novel proteins with binding specificity for DNA CTG repeats and RNA CUG repeats: Implications for myotonic dystrophy. Hum. Mol. Genet., 5, 115-121.
    • (1996) Hum. Mol. Genet , vol.5 , pp. 115-121
    • Timchenko, L.T.1    Timchenko, N.A.2    Caskey, C.T.3    Roberts, R.4
  • 26
    • 0037450704 scopus 로고    scopus 로고
    • A vertebrate RNA-binding protein Fox-1 regulates tissue-specific splicing via the pentanucleotide GCAUG
    • Jin, Y., Suzuki, H., Maegawa, S., Endo, H., Sugano, S., Hashimoto, K., Yasuda, K. and Inoue, K. (2003) A vertebrate RNA-binding protein Fox-1 regulates tissue-specific splicing via the pentanucleotide GCAUG. EMBO J., 22, 905-912.
    • (2003) EMBO J , vol.22 , pp. 905-912
    • Jin, Y.1    Suzuki, H.2    Maegawa, S.3    Endo, H.4    Sugano, S.5    Hashimoto, K.6    Yasuda, K.7    Inoue, K.8
  • 27
    • 33745248133 scopus 로고    scopus 로고
    • Lin, X., Miller, J.W., Mankodi, A., Kanadia, R.N., Yuan, Moxley, Y., Swanson, M.S. and Thornton, C.A. (2006) Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy. Hum. Mol. Genet., 15, 2087-2097.
    • Lin, X., Miller, J.W., Mankodi, A., Kanadia, R.N., Yuan, Moxley, Y., Swanson, M.S. and Thornton, C.A. (2006) Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy. Hum. Mol. Genet., 15, 2087-2097.
  • 28
    • 0033198739 scopus 로고    scopus 로고
    • Visualization of double-stranded RNAs from the myotonic dystrophy protein kinase gene and interactions with CUG-binding protein
    • Michalowski, S., Miller, J.W., Urbinati, C.R., Paliouras, M., Swanson, M.S. and Griffith, J. (1999) Visualization of double-stranded RNAs from the myotonic dystrophy protein kinase gene and interactions with CUG-binding protein. Nucleic Acids Res., 27, 3534-3542.
    • (1999) Nucleic Acids Res , vol.27 , pp. 3534-3542
    • Michalowski, S.1    Miller, J.W.2    Urbinati, C.R.3    Paliouras, M.4    Swanson, M.S.5    Griffith, J.6
  • 29
    • 0142009656 scopus 로고    scopus 로고
    • RNA structure of trinucleotide repeats associated with human neurological diseases
    • Sobczak, K., de Mezer, M., Michlewski, G., Krol, J. and Krzyzosiak, W.J., (2003) RNA structure of trinucleotide repeats associated with human neurological diseases. Nucleic Acids Res., 31, 5469-5482.
    • (2003) Nucleic Acids Res , vol.31 , pp. 5469-5482
    • Sobczak, K.1    de Mezer, M.2    Michlewski, G.3    Krol, J.4    Krzyzosiak, W.J.5
  • 30
    • 0024477261 scopus 로고
    • On finding all suboptimal foldings; of an RNA molecule
    • Zuker, M. (1989) On finding all suboptimal foldings; of an RNA molecule. Science, 244, 48-52.
    • (1989) Science , vol.244 , pp. 48-52
    • Zuker, M.1
  • 31
    • 0035146628 scopus 로고    scopus 로고
    • The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing
    • Ladd, A.N., Charlet-B, N. and Cooper, T.A. (2001) The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing. Mol. Cell. Biol., 21, 1285-1296.
    • (2001) Mol. Cell. Biol , vol.21 , pp. 1285-1296
    • Ladd, A.N.1    Charlet-B, N.2    Cooper, T.A.3
  • 33
    • 0032906538 scopus 로고    scopus 로고
    • Cardiac elav type RNA-binding protein (ETR-3) binds to RNA CUG repeats expanded in myotonic dystrophy
    • Lu, X., Timchenko, N.A. and Timchenko, L.T. (1999) Cardiac elav type RNA-binding protein (ETR-3) binds to RNA CUG repeats expanded in myotonic dystrophy. Hum. Mol. Genet., 8, 53-60.
    • (1999) Hum. Mol. Genet , vol.8 , pp. 53-60
    • Lu, X.1    Timchenko, N.A.2    Timchenko, L.T.3
  • 34
    • 0033983537 scopus 로고    scopus 로고
    • Expanded CUG repeat RNAs form hairpins that activate the double-stranded RNA-dependent protein kinase PKR
    • Tian, B., White, R.J., Xia, T., Welle, S., Turner, D.H., Mathews, M.B. and Thornton, C.A. (2000) Expanded CUG repeat RNAs form hairpins that activate the double-stranded RNA-dependent protein kinase PKR. RNA 6, 79-87.
    • (2000) RNA , vol.6 , pp. 79-87
    • Tian, B.1    White, R.J.2    Xia, T.3    Welle, S.4    Turner, D.H.5    Mathews, M.B.6    Thornton, C.A.7
  • 36
    • 0032524664 scopus 로고    scopus 로고
    • Sarcolipin regulates the activity of SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2 + ATPase
    • Odermatt, A., Becker, S., Khanna, V.K., Kurzydlowski, K., Leisner, E., Pette, D. and MacLennan, D.H. (1998) Sarcolipin regulates the activity of SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2 + ATPase. J. Biol. Chem., 273, 12360-12369.
    • (1998) J. Biol. Chem , vol.273 , pp. 12360-12369
    • Odermatt, A.1    Becker, S.2    Khanna, V.K.3    Kurzydlowski, K.4    Leisner, E.5    Pette, D.6    MacLennan, D.H.7


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