Journal article

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

Jijun Wan, Michael Yourshaw, Hafsa Mamsa, Sabine Rudnik-Schoeneborn, Manoj P Menezes, Ji Eun Hong, Derek W Leong, Jan Senderek, Michael S Salman, David Chitayat, Pavel Seeman, Arpad von Moers, Luitgard Graul-Neumann, Andrew J Kornberg, Manuel Castro-Gago, Maria-Jesus Sobrido, Masafumi Sanefuji, Perry B Shieh, Noriko Salamon, Ronald C Kim Show all

Nature Genetics | NATURE PUBLISHING GROUP | Published : 2012

Grants

Awarded by NIH/National Eye Institute (NEI)


Awarded by Deutsche Forschungsgemeinschaft


Awarded by IZKF Aachen


Awarded by Internal Grant Agency of the Ministry of Health of the Czech Republic


Awarded by Xunta de Galicia-Plan Galego de InvestigaCion, Desenvolvemento e Innovacion Tecnoloxica (INCITE)


Awarded by NATIONAL EYE INSTITUTE


Awarded by NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES


Awarded by NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE


Funding Acknowledgements

The authors are grateful for the generosity of the families who participated in this study. The sequencing and analytical work were supported by the Bioinformatics and Genomics Core of the UCLA Muscular Dystrophy Core Center (US National Institutes of Health (NIH)/National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) P30AR057230) within the Center for Duchenne Muscular Dystrophy. We appreciate fibroblasts from three subjects from the Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD) Brain and Tissue Bank for Developmental Disorders. We acknowledge the contribution of clinical data by P. Carpenter (University of California, Irvine). The work was supported by the NIH/National Eye Institute (NEI) (R01 EY015311 and NINDS R01 NS064183 to J.C.J.), Deutsche Forschungsgemeinschaft (Ru-746/1-1 to S.R.-S. and K.Z.), IZKF Aachen (N5-4 to S.R.-S. and J.S.), the Australian National Health and Medical Research Council (NHMRC) Centre for Research Excellence (M. M. R.), the Internal Grant Agency of the Ministry of Health of the Czech Republic (NS 10552-3 to P. S.) and Xunta de Galicia-Plan Galego de InvestigaCion, Desenvolvemento e Innovacion Tecnoloxica (INCITE) (10PXIB9101280PR to M.-J.S.).