siRNA mediated allele specific selective silencing of a dominant negative COL6A3 mutation causing UCMD

被引:0
|
作者
Zou, Y. [1 ]
Schessl, J. [1 ]
Bonnemann, C. [1 ]
机构
[1] Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA
关键词
D O I
10.1016/j.nmd.2008.06.031
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:732 / 732
页数:1
相关论文
共 22 条
  • [1] siRNA -mediated allele-specific silencing of a dominant negative COL6A3 mutation causing Ullrich Congenital muscular dystrophy
    Bolduc, V.
    Zou, Y.
    Bonnemann, C. G.
    NEUROMUSCULAR DISORDERS, 2013, 23 (9-10) : 744 - 744
  • [2] siRNA-mediated Allele-specific Silencing of a COL6A3 Mutation in a Cellular Model of Dominant Ullrich Muscular Dystrophy
    Bolduc, Veronique
    Zou, Yaqun
    Ko, Dayoung
    Boennemann, Carsten G.
    MOLECULAR THERAPY-NUCLEIC ACIDS, 2014, 3
  • [3] Development of Conjugated siRNAs for Allele-Specific Silencing of a Dominant Col6a3 Pathogenic Variant in Mouse Cultured Cells
    Trank, Lindsey
    Brull, Astrid
    Bolduc, Veronique
    Biscans, Annabelle
    Khvorova, Anastasia
    Bonnemann, Carsten G.
    MOLECULAR THERAPY, 2022, 30 (04) : 108 - 109
  • [4] CRISPR/Cas9 Allele-Specific Design to Inactivate A Dominant Negative Mutation in COL6A1 Causing Ullrich Muscular Dystrophy
    Benati, Daniela
    Patrizi, Clarissa
    Cattin, Eleonora
    Ferrari, Tommaso
    Pedrazzoli, Eleonora
    Marchionni, Matteo
    Rossi, Rachele
    D'Amico, Adele
    Merlini, Luciano
    Sabatelli, Patrizia
    Ferlini, Alessandra
    Gualandi, Francesca
    Recchia, Alessandra
    MOLECULAR THERAPY, 2022, 30 (04) : 91 - 91
  • [5] Novel COL6A3 mutation with an autosomal dominant inheritance pattern in a family affected by Bethlem myopathy
    Cordova Infantes, M. R.
    Marcos Toledano, M. M.
    Fernandez Marmiesse, A.
    Querol Pascual, R.
    Martinez Acevedo, M.
    Gonzalez Plata, A.
    Hariramani, R.
    EUROPEAN JOURNAL OF NEUROLOGY, 2018, 25 : 474 - 474
  • [6] CRISPR/Cas9 allele-specific design to inactivate a dominant-negative mutation in COL6A1 causing Ullrich muscular dystrophy
    Benati, D.
    Patrizi, C.
    Cattin, E.
    Ferrari, T.
    Pedrazzoli, E.
    Marchionni, M.
    Rossi, R.
    D'Amico, A.
    Merlini, L.
    Sabatelli, P.
    Ferlini, A.
    Gualandi, F.
    Recchia, A.
    HUMAN GENE THERAPY, 2021, 32 (19-20) : A65 - A66
  • [7] RNAseH Mediated Allele-Specific Silencing of a Dominant Mutation in CollagenVI-Related Dystrophy
    Sarathy, Apurva
    Bolduc, Veronique
    Bonnemann, Carsten G.
    MOLECULAR THERAPY, 2017, 25 (05) : 206 - 206
  • [8] Skipping of exon 16 in COL6A3 is a recurrent mutation causing severe congenital muscular dystrophy type Ullrich
    Zou, Y.
    Schessl, J.
    Lampe, A.
    Hu, Y.
    Jimenez-Mallebrera, C.
    Schreiber, G.
    Stolte-Dijkstra, I.
    Fock, A.
    Chu, M.
    Bushby, K.
    Weiss, R.
    Flanigan, K.
    Muntoni, F.
    Boennemann, C.
    NEUROMUSCULAR DISORDERS, 2007, 17 (9-10) : 844 - 844
  • [9] Gapmer antisense oligonucleotides selectively suppress the mutant allele of COL6A3 gene in dominant Ullrich congenital muscular dystrophy
    Zhou, H.
    Marrosu, E.
    Ala, P.
    Muntoni, F.
    NEUROMUSCULAR DISORDERS, 2017, 27 : S107 - S107
  • [10] Further Development of an Allele-Specific Gene Silencing Strategy to Correct a Dominant-Negative Mutation Causing Collagen VI-Related Muscular Dystrophy
    Bolduc, Veronique
    Sizov, Katherine
    Sarathy, Apurva
    Zou, Yaqun
    Bonnemann, Carsten G.
    MOLECULAR THERAPY, 2016, 24 : S60 - S60