Journal article

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

Michaele Yuen, Sarah A Sandaradura, James J Dowling, Alla S Kostyukova, Natalia Moroz, Kate G Quinlan, Vilma-Lotta Lehtokari, Gianina Ravenscroft, Emily J Todd, Ozge Ceyhan-Birsoy, David S Gokhin, Jerome Maluenda, Monkol Lek, Flora Nolent, Christopher T Pappas, Stefanie M Novak, Adele D'Amico, Edoardo Malfatti, Brett P Thomas, Stacey B Gabriel Show all

Journal of Clinical Investigation | AMER SOC CLINICAL INVESTIGATION INC | Published : 2014

Grants

Awarded by National Health and Medical Research Council of Australia


Awarded by Association Francaise contre les Myopathies


Awarded by National Hospital Clinical Research Program


Awarded by National Institute of Child Health and Development of the NIH


Awarded by Muscular Dystrophy Association (USA)


Awarded by National Institute on Aging


Awarded by Italian Ministry of Health Ricerca finalizzata


Awarded by NIH


Awarded by National Human Genome Research Institute of the NIH


Funding Acknowledgements

This work was funded by the National Health and Medical Research Council of Australia (1022707 and 1031893 to N.F. Clarke, K.N. North, and N.G. Laing; 1035828 to N.F. Clarke; 1035955 to G. Ravenscroft; 0511981 to K.G. Quinlan; 1002147 to N.G. Laing; and 1075451 to S.A. Sandaradura), the Association Francaise contre les Myopathies (15734 to G. Ravenscroft and N.G. Laing; DAJ1891 to J. Melki), the National Hospital Clinical Research Program (A0M10181 to J. Melki), the National Institute of Child Health and Development of the NIH (R01 HD 075802 to A.H. Beggs), the Muscular Dystrophy Association (USA) (MDA201302 to A.H. Beggs), the AUism Charitable Foundation (to A.H. Beggs), and the National Institute on Aging (AG000114 to D.D. Sloboda). M. Kreissl is supported by a University of Sydney Australian Postgraduate Award and an International Postgraduate Research Scholarship. E.J. Todd is supported by a University of Western Australia Postgraduate Award. O. Ceyhan-Birsoy is supported by a Dubai-Harvard Foundation for Medical Research postdoctoral fellowship and Schlumberger Foundation Faculty for the Future grant. A. D'Amico and E. Bertini are supported by the Italian Ministry of Health Ricerca finalizzata (GR-2010-2310981). A.S. Kostyukova is supported by NIH grant GM081688, and V.A. Gupta is supported by NIH grant K01 AR062601. D.S. Gokhin is supported by a Development Grant from the Muscular Dystrophy Association (USA). Exome sequencing was supported by grants from the National Human Genome Research Institute of the NIH (Medical Sequencing Program grant U54 HG003067 to the Broad Institute principal investigator, Lander) and by the Gene Partnership Project of Boston Children's Hospital. The authors would like to thank the study patients and their families, without whose participation this work would not have been possible. We thank F. Muntoni (Dubowitz Neuromuscular Centre, UCL Institute of Child Health and Great Ormond Street Hospital for Children), C. Lacroix, (Service de Neuropathologie, CHU Bicetre), V. Zupan-Simunek (Service de Neonatologie, Hopital Antoine Beclere), A. Kan and N. Graf (The Children's Hospital at Westmead), and F. Fattori (Bambino Gesu Children's Hospital) for contribution and/or analysis of patient samples; S. Brammah(Concord Hospital) for provision of EM control images; T. Peduto (The Children's Hospital at Westmead) for assistance with analysis of muscle MRI; D.M. Margulies (Boston Children's Hospital) for support of WES through The Gene Partnership; and T. Yu and P. Park (Boston Children's Hospital) for WES pipeline development. We thank S.V. Brooks (University of Michigan) for assistance with experimental work and R. Dominguez (University of Pennsylvania) for providing reagents.