Journal article

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome

Nicole J Lake, Bryn D Webb, David A Stroud, Tara R Richman, Benedetta Ruzzenente, Alison G Compton, Hayley S Mountford, Juliette Pulman, Coralie Zangarelli, Marlene Rio, Nathalie Bodaert, Zahra Assouline, Mingma D Sherpa, Eric E Schadt, Sander M Houten, James Byrnes, Elizabeth M McCormick, Zarazuela Zolkipli-Cunningham, Katrina Haude, Zhancheng Zhang Show all

The American Journal of Human Genetics | CELL PRESS | Published : 2017


Awarded by Australian National Health and Medical Research Council (NHMRC)

Awarded by Australian Research Council

Awarded by NHMRC

Awarded by NIH National Institute of Child Health and Human Development (NICHD)

Awarded by NIH

Awarded by French Muscular Dystrophy Association (AFM)

Awarded by Genomit

Funding Acknowledgements

This project was supported by Australian National Health and Medical Research Council (NHMRC) fellowships and project grants to D.R.T., A.G.C., A.F., and D.A.S. (1022896, 1068409, 1068056, 1058442, 1078273, 1125390, 1107094, 1070916), the Australian Research Council (DP170103000 to A.F.), the Jaxson Flynt Research Fund (M.J.F. and J.B.), the Joseph and Pat Holveck Research Fund (M.J.F. and Z.Z.-C.), an Australian Postgraduate Award (N.J.L.), a NHMRC scholarship (1017174 to H.S.M.), Australian Mitochondrial Disease Foundation scholarship (N.J.L. and H.S.M.), the Victorian Government's Operational Infrastructure Support Program (D.R.T. and A.G.C.), the Icahn Institute for Genomics and Multiscale Biology, NIH National Institute of Child Health and Human Development (NICHD) (grant K08HD086827 to B.D.W.), the NIH (R01GM077465 and 1R35GM122455 to V.K.M.), the French Muscular Dystrophy Association (AFM grant #19876 to M.D.M.), and Genomit (01GML1207 to A.R.). We acknowledge the use of bioresources of the Necker Imagine DNA biobank (BB-033-00065). We thank the subjects, families, and multi-disciplinary clinical care providers for their involvement. The authors acknowledge the GeneMatcher tool, which enabled the identification of two of the families described in this study, and the Monash Biomedical Proteomics Facility, Monash University, for the provision of instrumentation, training, and technical support. We thank Associate Professor Susan Donath for her expert advice on appropriate statistical analyses. The content is solely the responsibility of the authors and does not necessarily represent the official views of the funding agencies.