A Common Deep Intronic Mutation Causing Collagen VI-Related Muscular Dystrophy: Validation of Splice-Modulating Approaches In Vitro and Development of a Mouse Model

Veronique Bolduc, A. Reghan Foley, Herimela Solomon-Degefa, Apurva Sarathy, Sandra Donkervoort, Ying Hu, Grace S. Chen, Matthew Nalls, Haiyan Zhou, Sara Aguti, Beryl B. Cummings, Monkol Lek, Taru Tukiainen, Jamie L. Marshall, Oded Regev, Dina Marek-Yagel, Anna Sarkozy, Russell J. Butterfield, Cristina Jou, Cecilia Jimenez-Mallebrera & 15 others Yan Li, Jun Cheng, Lisa Garrett, Corine Gartioux, Kamel Mamchaoui, Valerie Allamand, Francesca Gualandi, Alessandra Ferlini, Eric Hanssen, Steve D. Wilton, Shireen R. Lamande, Daniel G. MacArthur, Raimund Wagener, Francesco Muntoni, Carsten G. Bonnemann

Research output: Contribution to journal › Abstract/Meeting Abstract

Original languageEnglish
Pages (from-to)304-304
Number of pages1
JournalMolecular Therapy
Volume27
Issue number4
Publication statusPublished - 22 Apr 2019
Event22nd Annual Meeting of the American-Society-of-Gene-and-Cell-Therapy (ASGCT) - Washington Hilton, Washington, United States
Duration: 29 Apr 2019 → 2 May 2019
https://annualmeeting.asgct.org/UserFiles/file/FinalApprovedVersion_x2.pdf (Meeting guide/program)

Cite this

Bolduc, V., Foley, A. R., Solomon-Degefa, H., Sarathy, A., Donkervoort, S., Hu, Y., ... Bonnemann, C. G. (2019). A Common Deep Intronic Mutation Causing Collagen VI-Related Muscular Dystrophy: Validation of Splice-Modulating Approaches In Vitro and Development of a Mouse Model. Molecular Therapy, 27(4), 304-304.
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. / A Common Deep Intronic Mutation Causing Collagen VI-Related Muscular Dystrophy : Validation of Splice-Modulating Approaches In Vitro and Development of a Mouse Model. In: Molecular Therapy. 2019 ; Vol. 27, No. 4. pp. 304-304.
@article{bf6340d99c85460fbf2fcbc5ce39c9ec,
title = "A Common Deep Intronic Mutation Causing Collagen VI-Related Muscular Dystrophy: Validation of Splice-Modulating Approaches In Vitro and Development of a Mouse Model",
author = "Veronique Bolduc and Foley, {A. Reghan} and Herimela Solomon-Degefa and Apurva Sarathy and Sandra Donkervoort and Ying Hu and Chen, {Grace S.} and Matthew Nalls and Haiyan Zhou and Sara Aguti and Cummings, {Beryl B.} and Monkol Lek and Taru Tukiainen and Marshall, {Jamie L.} and Oded Regev and Dina Marek-Yagel and Anna Sarkozy and Butterfield, {Russell J.} and Cristina Jou and Cecilia Jimenez-Mallebrera and Yan Li and Jun Cheng and Lisa Garrett and Corine Gartioux and Kamel Mamchaoui and Valerie Allamand and Francesca Gualandi and Alessandra Ferlini and Eric Hanssen and Wilton, {Steve D.} and Lamande, {Shireen R.} and MacArthur, {Daniel G.} and Raimund Wagener and Francesco Muntoni and Bonnemann, {Carsten G.}",
year = "2019",
month = "4",
day = "22",
language = "English",
volume = "27",
pages = "304--304",
journal = "Molecular Therapy",
issn = "1525-0016",
publisher = "Nature Publishing Group",
number = "4",

}

Bolduc, V, Foley, AR, Solomon-Degefa, H, Sarathy, A, Donkervoort, S, Hu, Y, Chen, GS, Nalls, M, Zhou, H, Aguti, S, Cummings, BB, Lek, M, Tukiainen, T, Marshall, JL, Regev, O, Marek-Yagel, D, Sarkozy, A, Butterfield, RJ, Jou, C, Jimenez-Mallebrera, C, Li, Y, Cheng, J, Garrett, L, Gartioux, C, Mamchaoui, K, Allamand, V, Gualandi, F, Ferlini, A, Hanssen, E, Wilton, SD, Lamande, SR, MacArthur, DG, Wagener, R, Muntoni, F & Bonnemann, CG 2019, 'A Common Deep Intronic Mutation Causing Collagen VI-Related Muscular Dystrophy: Validation of Splice-Modulating Approaches In Vitro and Development of a Mouse Model' Molecular Therapy, vol. 27, no. 4, pp. 304-304.

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.

In: Molecular Therapy, Vol. 27, No. 4, 22.04.2019, p. 304-304.

Research output: Contribution to journal › Abstract/Meeting Abstract

TY - JOUR

T1 - A Common Deep Intronic Mutation Causing Collagen VI-Related Muscular Dystrophy

T2 - Validation of Splice-Modulating Approaches In Vitro and Development of a Mouse Model

AU - Bolduc, Veronique

AU - Foley, A. Reghan

AU - Solomon-Degefa, Herimela

AU - Sarathy, Apurva

AU - Donkervoort, Sandra

AU - Hu, Ying

AU - Chen, Grace S.

AU - Nalls, Matthew

AU - Zhou, Haiyan

AU - Aguti, Sara

AU - Cummings, Beryl B.

AU - Lek, Monkol

AU - Tukiainen, Taru

AU - Marshall, Jamie L.

AU - Regev, Oded

AU - Marek-Yagel, Dina

AU - Sarkozy, Anna

AU - Butterfield, Russell J.

AU - Jou, Cristina

AU - Jimenez-Mallebrera, Cecilia

AU - Li, Yan

AU - Cheng, Jun

AU - Garrett, Lisa

AU - Gartioux, Corine

AU - Mamchaoui, Kamel

AU - Allamand, Valerie

AU - Gualandi, Francesca

AU - Ferlini, Alessandra

AU - Hanssen, Eric

AU - Wilton, Steve D.

AU - Lamande, Shireen R.

AU - MacArthur, Daniel G.

AU - Wagener, Raimund

AU - Muntoni, Francesco

AU - Bonnemann, Carsten G.

PY - 2019/4/22

Y1 - 2019/4/22

M3 - Abstract/Meeting Abstract

VL - 27

SP - 304

EP - 304

JO - Molecular Therapy

JF - Molecular Therapy

SN - 1525-0016

IS - 4

ER -

Bolduc V, Foley AR, Solomon-Degefa H, Sarathy A, Donkervoort S, Hu Y et al. A Common Deep Intronic Mutation Causing Collagen VI-Related Muscular Dystrophy: Validation of Splice-Modulating Approaches In Vitro and Development of a Mouse Model. Molecular Therapy. 2019 Apr 22;27(4):304-304.