Effective Pseudo-Exon Skipping of a COL6A1 Intronic Mutation in Cultured Muscle Interstitial Fibroblasts from a Novel Humanized Mouse Model

被引:0
|
作者
Bolduc, Veronique [1 ]
Guirguis, Fady [1 ]
Aguti, Sara [2 ]
Zhou, Haiyan [2 ]
Cheng, Jun [3 ]
Garrett, Lisa [3 ]
Muntoni, Francesco [2 ]
Bonnemann, Carsten G. [1 ]
机构
[1] NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA
[2] UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England
[3] NHGRI, Embryon Stem Cell & Transgen Mouse Core, Bethesda, MD 20892 USA
关键词
D O I
暂无
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
925
引用
收藏
页码:401 / 402
页数:2
相关论文
共 3 条
  • [1] Effective pseudo-exon skipping of a COL6A1 intronic mutation in cultured muscle interstitial fibroblasts from a novel humanized mouse model
    Bolduc, V.
    Guirguis, F.
    Cheng, J.
    Garrett, L.
    Bonnemann, C.
    NEUROMUSCULAR DISORDERS, 2020, 30 : S104 - S104
  • [2] A common COL6A1 deep-intronic pseudo-exon inserting mutation causes a distinct phenotype of Ullrich congenital muscular dystrophy
    Foley, A. Reghan
    Donkervoort, S.
    Bolduc, V.
    Hu, Y.
    Cummings, B.
    Lek, M.
    Sarkozy, A.
    Jimenez-Mallebrera, C.
    Butterfield, R.
    Lamande, S.
    Kirschner, J.
    Allamand, V.
    Stojkovic, T.
    Quijano-Roy, S.
    Gualandi, F.
    Ferlini, A.
    Bertini, E.
    MacArthur, D.
    Muntoni, F.
    Bonnemann, C.
    NEUROMUSCULAR DISORDERS, 2017, 27 : S106 - S106
  • [3] A novel in situ hybridisation (ISH) assay mapping the in-frame pseudoexon 11 (pE11) expression in cultured dermal fibroblasts (CDF) and skeletal muscle in patients with severe collagen VI disease due to a deep intronic mutation in COL6A1
    Beck, M.
    Aguti, S.
    Ala, P.
    Richard-Loendt, A.
    Chambers, D.
    Scaglioni, D.
    Ardicli, D.
    Feng, L.
    Mein, R.
    Zhou, H.
    Sewry, C.
    Sarkozy, A.
    Torelli, S.
    Muntoni, F.
    Phadke, R.
    NEUROMUSCULAR DISORDERS, 2019, 29 : S194 - S194