A mutation in MT-TW causes a tRNA processing defect and reduced mitochondrial function in a family with Leigh syndrome

Rachael M Duff; Anne-Marie J Shearwood; Judith Ermer; Giulia Rossetti; Rebecca Gooding; Tara R Richman; Shanti Balasubramaniam; David R Thorburn; Oliver Rackham; Phillipa J Lamont; Aleksandra Filipovska

Journal article

A mutation in MT-TW causes a tRNA processing defect and reduced mitochondrial function in a family with Leigh syndrome

Rachael M Duff, Anne-Marie J Shearwood, Judith Ermer, Giulia Rossetti, Rebecca Gooding, Tara R Richman, Shanti Balasubramaniam, David R Thorburn, Oliver Rackham, Phillipa J Lamont, Aleksandra Filipovska

Mitochondrion | ELSEVIER SCI LTD | Published : 2015

DOI: 10.1016/j.mito.2015.10.008

University of Melbourne Researchers

David Thorburn Author Paediatrics Royal Children's Hospital

Grants

Awarded by National Health and Medical Research Council

Funding Acknowledgements

This project was supported by fellowships and project grants (to O.R., P.L., DT and A.F) from the National Health and Medical Research Council (APP1058442, APP1045677, APP1041582, APP1023460, APP1005030) and the Australian Mitochondrial Disease Foundation (AMDF). R.D. was supported by funding from the AMDF and T.R. by a NHMRC Dora Lush Scholarship. We thank David Chandler from AGRF for the pyrosequencing.