Center Abstract
Project 1: Mouse Muscleblind Model for Myotonic Dystrophy
PI: Maurice Swanson, Ph.D. Project Abstract
Project 2: Trial of SomatoKine (IPLEX) in Myotonic Dystrophy Type 1 (DM1)
PI: Richard T. Moxley III, M.D. Project: Abstract
Project 3: Position Effect and Vascular Adaptation in Facioscapulohumeral Dystrophy (FSHD)
PI: Rabi Tawil, M.D. Project Abstract
Core A: Administrative Core
PI: Richard T. Moxley III, M.D. Core Abstract
Core B: Repository Core
PI: Charles Thornton, M.D. Core Abstract
Core C: Imaging Core
PI: Rabi Tawil, M.D. Core Abstract
Publications
Tawil R, Van Der Maarel SM. Facioscapulohumeral muscular dystrophy. Muscle Nerve 34(1):1-15, 2006. Kanadia RN, Shin J, Yuan Y, Beattie SG, Wheeler TM, Thornton CA , Swanson MS. Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy. Proc Natl Acad Sci U S A 103(31):11748-53, 2006. Lin X, Miller JW, Mankodi A, Kanadia RN, Yuan Y, Moxley RT, Swanson MS, and CA Thornton. Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy. Hum Mol Genet 15: 2087-97, 2006. Ho TH, Savkur RS, Poulos MG, Mancini MA, Swanson MS, and TA Cooper. Colocalization of muscleblind with RNA foci is separable from mis-regulation of alternative splicing in myotonic dystrophy. J Cell Sci 118: 2923-33, 2005. Ladd AN, Stenberg MG, Swanson MS, and TA Cooper. Dynamic balance between activation and repression regulates pre-mRNA alternative splicing during heart development. Dev Dyn 233: 783-93, 2005. Mankodi A, Lin X, Blaxall BC , Swanson MS, and CA Thornton. Nuclear RNA foci in the heart in myotonic dystrophy. Circ Res 97: 1152-5, 2005. Yuan Y, Kanadia R, and MS Swanson. Impact of Unstable Microsatellites on RNA Processing. Chemtracts - Biochemistry and Molecular Biology 18: 129-140, 2005. Leppert J , Urbinati CR , Hafner S , Ohlenschlager O , Swanson MS , Gorlach M , and R Ramachandran . Identification of NH...N hydrogen bonds by magic angle spinning solid state NMR in a double-stranded RNA associated with myotonic dystrophy. Nucleic Acids Res 32: 1177-83, 2004. Ho TH, Charlet-B N, Poulos MG, Singh G, Swanson MS, and TA Cooper. Muscleblind proteins regulate alternative splicing. EMBO J 23: 3103-12, 2004. Jiang H, Mankodi A, Swanson MS, Moxley RT, and CA Thornton. Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons. Hum Mol Genet 13: 3079-88, 2004. Jun KY, Xia Y, Han X, Zhang H, Timchenko L, Swanson MS, and X Gao. (1)H, (15)N and (13)C chemical shift assignments of RNA repeats binding protein -- CUGBP1ab. J Biomol NMR 30: 371-2, 2004. Kanadia RN, Johnstone KA, Mankodi A, Lungu C, Thornton CA, Esson D, Timmers AM, Hauswirth WW, and MS Swanson. A muscleblind knockout model for myotonic dystrophy. Science 302: 1978-80, 2003. Kanadia RN, Urbinati CR, Crusselle VJ, Luo D, Lee YJ, Harrison JK, Oh SP, and MS Swanson. Developmental expression of mouse muscleblind genes Mbnl1, Mbnl2 and Mbnl3. Gene Expr Patterns 3: 459-62, 2003. Mankodi A, Teng-Umnuay P, Krym M, Henderson D, Swanson M, and CA Thornton . Ribonuclear inclusions in skeletal muscle in myotonic dystrophy types 1 and 2. Ann Neurol 54: 760-8, 2003.
Tawil R, Van Der Maarel SM. Facioscapulohumeral muscular dystrophy. Muscle Nerve 34(1):1-15, 2006.
Kanadia RN, Shin J, Yuan Y, Beattie SG, Wheeler TM, Thornton CA , Swanson MS. Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy. Proc Natl Acad Sci U S A 103(31):11748-53, 2006.
Lin X, Miller JW, Mankodi A, Kanadia RN, Yuan Y, Moxley RT, Swanson MS, and CA Thornton. Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy. Hum Mol Genet 15: 2087-97, 2006.
Ho TH, Savkur RS, Poulos MG, Mancini MA, Swanson MS, and TA Cooper. Colocalization of muscleblind with RNA foci is separable from mis-regulation of alternative splicing in myotonic dystrophy. J Cell Sci 118: 2923-33, 2005.
Ladd AN, Stenberg MG, Swanson MS, and TA Cooper. Dynamic balance between activation and repression regulates pre-mRNA alternative splicing during heart development. Dev Dyn 233: 783-93, 2005.
Mankodi A, Lin X, Blaxall BC , Swanson MS, and CA Thornton. Nuclear RNA foci in the heart in myotonic dystrophy. Circ Res 97: 1152-5, 2005.
Yuan Y, Kanadia R, and MS Swanson. Impact of Unstable Microsatellites on RNA Processing. Chemtracts - Biochemistry and Molecular Biology 18: 129-140, 2005.
Leppert J , Urbinati CR , Hafner S , Ohlenschlager O , Swanson MS , Gorlach M , and R Ramachandran . Identification of NH...N hydrogen bonds by magic angle spinning solid state NMR in a double-stranded RNA associated with myotonic dystrophy. Nucleic Acids Res 32: 1177-83, 2004.
Ho TH, Charlet-B N, Poulos MG, Singh G, Swanson MS, and TA Cooper. Muscleblind proteins regulate alternative splicing. EMBO J 23: 3103-12, 2004.
Jiang H, Mankodi A, Swanson MS, Moxley RT, and CA Thornton. Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons. Hum Mol Genet 13: 3079-88, 2004.
Jun KY, Xia Y, Han X, Zhang H, Timchenko L, Swanson MS, and X Gao. (1)H, (15)N and (13)C chemical shift assignments of RNA repeats binding protein -- CUGBP1ab. J Biomol NMR 30: 371-2, 2004.
Kanadia RN, Johnstone KA, Mankodi A, Lungu C, Thornton CA, Esson D, Timmers AM, Hauswirth WW, and MS Swanson. A muscleblind knockout model for myotonic dystrophy. Science 302: 1978-80, 2003.
Kanadia RN, Urbinati CR, Crusselle VJ, Luo D, Lee YJ, Harrison JK, Oh SP, and MS Swanson. Developmental expression of mouse muscleblind genes Mbnl1, Mbnl2 and Mbnl3. Gene Expr Patterns 3: 459-62, 2003.
Mankodi A, Teng-Umnuay P, Krym M, Henderson D, Swanson M, and CA Thornton . Ribonuclear inclusions in skeletal muscle in myotonic dystrophy types 1 and 2. Ann Neurol 54: 760-8, 2003.