Journal article

A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies

Veronique Bolduc, A Reghan Foley, Herimela Solomon-Degefa, Apurva Sarathy, Sandra Donkervoort, Ying Hu, Grace S Chen, Katherine Sizov, 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 Show all

JCI Insight | AMER SOC CLINICAL INVESTIGATION INC | Published : 2019

Grants

Awarded by National Institute of Neurological Disorders and Stroke intramural funds


Awarded by German Research Council


Awarded by Muscular Dystrophy Association Development Grant


Awarded by Instituto de Salud Carlos III Subdireccion General de Evaluacion y Fomento de la Investigacion Sanitaria


Awarded by National Heart, Lung and Blood Institute


Funding Acknowledgements

The authors thank Mon-Li Chu for providing the collagen VI antibody, Dragan Maric for sharing his expertise in fluorescence-activated cell sorting, and Gina Norato for reviewing the statistical analyses. This study was supported by National Institute of Neurological Disorders and Stroke intramural funds to CGB (1ZIANS003129-08), and by the German Research Council (CRC 829-B2, FOR 2722-B1) to RW. We acknowledge contributing funding and support from CureCMD and Muscular Dystrophy UK. VB is the recipient of a Canadian Institutes of Health Research Fellowship, a Fonds de Recherche Quebec - Sante Fellowship, and of a Muscular Dystrophy Association Development Grant (MDA513460). FM is supported by the National Institute for Health Research Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London. FM gratefully acknowledges the support of the Centre for Neuromuscular Disease Biobank, and of the Muscular Dystrophy UK. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR or the Department of Health. CJM is funded by the Plan Nacional de I+D+ I and Instituto de Salud Carlos III Subdireccion General de Evaluacion y Fomento de la Investigacion Sanitaria (projects PI16/PI16/00579 and CP09/00011 to CJM), and the European Regional Development Fund (FEDER, A way to make Europe). CJM is indebted to the "Biobanc de l'Hospital Infantil Sant Joan de Deu per a la Investigacio" integrated in the Spanish Biobank Network of ISCIII for the sample and data procurement. DGM was supported by the National Human Genome Research Institute, the National Eye Institute, and the National Heart, Lung and Blood Institute grant UM1 HG008900. See supplemental material for the COL6A1 Intron 11 Study Group consortium details.