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; 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

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-MallebreraYan 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

Centre for Neuromuscular & Neurological Disorders

Research output: Contribution to journal › Abstract/Meeting Abstract

Original language	English
Pages (from-to)	304-304
Number of pages	1
Journal	Molecular Therapy
Volume	27
Issue number	4
Publication status	Published - 22 Apr 2019
Event	22nd 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., Chen, G. S., Nalls, M., Zhou, H., Aguti, S., Cummings, B. B., Lek, M., Tukiainen, T., Marshall, J. L., Regev, O., Marek-Yagel, D., Sarkozy, A., Butterfield, R. J., Jou, C., ... 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 = apr,

day = "22",

language = "English",

volume = "27",

pages = "304--304",

journal = "Molecular Therapy",

issn = "1525-0016",

publisher = "Nature Publishing Group",

number = "4",

note = "22nd Annual Meeting of the American-Society-of-Gene-and-Cell-Therapy (ASGCT), ASGCT 2019 ; Conference date: 29-04-2019 Through 02-05-2019",

url = "https://annualmeeting.asgct.org/UserFiles/file/FinalApprovedVersion_x2.pdf",

}

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 - 22nd Annual Meeting of the American-Society-of-Gene-and-Cell-Therapy (ASGCT)

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

Y2 - 29 April 2019 through 2 May 2019

ER -