A novel target for splice-modulating therapies: a common pseudoexon-inducing mutation that causes a severe collagen VI-related muscular dystrophy

被引：0

作者：

Bolduc, V. ^{[1
]}

Foley, A. ^{[1
]}

Degefa, H. Solomon ^{[2
]}

Sarathy, A. ^{[1
]}

Donkervoort, S. ^{[1
]}

Hu, Y. ^{[1
]}

Zhou, H. ^{[3
]}

Cummings, B. ^{[4
]}

Lek, M. ^{[4
]}

Regev, O. ^{[5
]}

Jimenez-Mallebrera, C. ^{[6
]}

Allamand, V. ^{[7
]}

Ferlini, A. ^{[8
]}

Wilton, S. ^{[9
]}

Hanssen, E. ^{[10
]}

Lamande, S. ^{[11
]}

MacArthur, D. ^{[4
]}

Wagener, R. ^{[2
]}

Muntoni, F. ^{[3
]}

Bonnemann, C. ^{[1
]}

机构：

[1] NIH, Bldg 10, Bethesda, MD 20892 USA

[2] Univ Cologne, Cologne, Germany

[3] Dubowitz Neuromuscular Ctr, London, England

[4] Broad Inst, Boston, MA USA

[5] NYU, New York, NY USA

[6] Hosp St Joan de Deu, Barcelona, Spain

[7] Inst Myol, Paris, France

[8] Univ Ferrara, Ferrara, Italy

[9] Univ Western Australia, Perth, WA, Australia

[10] Univ Melbourne, Melbourne, Vic, Australia

[11] Murdoch Childrens Res In, Parkville, Vic, Australia

来源：

NEUROMUSCULAR DISORDERS | 2019年 / 29卷

关键词：

D O I：

10.1016/j.nmd.2019.06.028

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

O.10

引用

页码：S40 / S41

页数：2

共 5 条

[1] A Common Deep Intronic Mutation Causing Collagen VI-Related Muscular Dystrophy: Validation of Splice-Modulating Approaches In Vitro and Development of a Mouse Model
Bolduc, Veronique
Foley, A. Reghan
Solomon-Degefa, Herimela
Sarathy, Apurva
Donkervoort, Sandra
Hu, Ying
Chen, Grace S.
Nalls, Matthew
Zhou, Haiyan
Aguti, Sara
Cummings, Beryl B.
Lek, Monkol
Tukiainen, Taru
Marshall, Jamie L.
Regev, Oded
Marek-Yagel, Dina
Sarkozy, Anna
Butterfield, Russell J.
Jou, Cristina
Jimenez-Mallebrera, Cecilia
Li, Yan
Cheng, Jun
Garrett, Lisa
Gartioux, Corine
Mamchaoui, Kamel
Allamand, Valerie
Gualandi, Francesca
Ferlini, Alessandra
Hanssen, Eric
Wilton, Steve D.
Lamande, Shireen R.
MacArthur, Daniel G.
Wagener, Raimund
Muntoni, Francesco
Bonnemann, Carsten G.
MOLECULAR THERAPY, 2019, 27 (04) : 304 - 304
[2] A Novel Humanized Knock-In Mouse Modeling a Deep Intronic Mutation in Collagen VI-Related Dystrophy: Characterizing Preclinical Outcome Measures
Guirguis, Fady
Bolduc, Veronique
Cheng, Jun
Garrett, Lisa
Bonnemann, Carsten
MOLECULAR THERAPY, 2021, 29 (04) : 290 - 290
[3] 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
[4] Allele-Specific COL6A1 Gene Editing to Inactivate a Dominant Glycine Mutation Causing a Collagen VI-Related Muscular Dystrophy
Bolduc, Veronique
Sizov, Katherine
Sarathy, Apurva
Bonnemann, Carsten G.
MOLECULAR THERAPY, 2018, 26 (05) : 391 - 392
[5] A Novel Humanized Knock-In Mouse Modeling a Deep Intronic Mutation in Collagen VI-Related Dystrophy Has Weaker Grip Strength and More Centrally Nucleated Myofibers
Guirguis, Fady
Trank, Lindsey
Cheng, Jun
Garrett, Lisa
Bolduc, Veronique
Bonnemann, Carsten G.
MOLECULAR THERAPY, 2023, 31 (04) : 335 - 336

← 1 →