Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS (original) (raw)
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Acknowledgements
We thank the patients whose participation made this work possible. We thank the St Jude Pediatric Cancer Genome Project and J. Zhang in particular for providing access to control sequencing data. We thank C. Gellera, B. Baloh, M. Harms, S. Krause, G. Dreyfuss and T. Cundy for sharing reagents. We thank S. Donkervoort and S. Mumm for coordinating samples, and A. Taylor for editorial assistance. J.P.T. was supported by ALSAC, the Packard Foundation and the National Institutes of Health (NIH) (NS053825); J.P.T. and M.B. were supported by the ALS Association; J.Q.T. was supported by the NIH (AG032953); J.S. was supported by the NIH (DP2OD002177 and NS067354) and the Ellison Medical Foundation; E.D.R. was supported by the National Science Foundation (MCB-1023771). C.C.W. was supported by the NIH (AG031867).
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Author notes
- Hong Joo Kim, Nam Chul Kim, Yong-Dong Wang, Emily A. Scarborough, Jennifer Moore and Zamia Diaz: These authors contributed equally to this work.
Authors and Affiliations
- Department of Developmental Neurobiology, St Jude Children’s Research Hospital, Memphis, 38120, Tennessee, USA
Hong Joo Kim, Nam Chul Kim, Jennifer Moore, Brian Freibaum, Songqing Li, Amandine Molliex, Anderson P. Kanagaraj & J. Paul Taylor - Hartwell Center for Bioinformatics and Biotechnology, St Jude Children’s Research Hospital, Memphis, 38120, Tennessee, USA
Yong-Dong Wang - Department of Biochemistry and Biophysics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, 19104, Pennsylvania, USA
Emily A. Scarborough, Zamia Diaz, Alice Flynn Ford & James Shorter - Department of Biochemistry and Molecular Biology, Colorado State University, Fort Collins, 80523, Colorado, USA
Kyle S. MacLea & Eric D. Ross - Department of Computational Biology, St Jude Children’s Research Hospital, Memphis, 38120, Tennessee, USA
Robert Carter - Department of Neuroscience, Mayo Clinic, Jacksonville, 32224, Florida, USA
Kevin B. Boylan, Aleksandra M. Wojtas & Rosa Rademakers - Department of Neurology, Brigham and Women’s Hospital, Harvard Medical School, Boston, 02115, Massachusetts, USA
Jack L. Pinkus & Steven A. Greenberg - Department of Pathology and Laboratory Medicine, Institute on Aging and Center for Neurodegenerative Disease Research, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, 19104, Pennsylvania, USA
John Q. Trojanowski & Bradley N. Smith - Neuromuscular Diseases Research Group, Laboratory of Neurogenetics, Porter Neuroscience Building, National Institute on Aging, National Institutes of Health, Bethesda, 20892, Maryland, USA
Bryan J. Traynor - Department of Clinical Neuroscience, King’s College London Centre for Neurodegeneration Research, Institute of Psychiatry, London SE5 8AF, UK,
Simon Topp, Athina-Soragia Gkazi, Jack Miller & Christopher E. Shaw - Division of Neuropediatrics and Muscle Disorders, University Children’s Hospital Freiburg, 79106 Freiburg, Germany,
Michael Kottlors & Janbernd Kirschner - Department of Neurology, Washington University School of Medicine, Saint Louis, 63110, Missouri, USA
Alan Pestronk & Conrad C. Weihl - Medical Scientist Training Program, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, 19104, Pennsylvania, USA
Yun R. Li - Department of Genetics, Stanford University School of Medicine, Stanford, 94305, California, USA
Aaron D. Gitler - Neurology Department, University of Miami Miller School of Medicine, Miami, 33136, Florida, USA
Michael Benatar - Boston Biomedical Research Institute, Watertown, 02472, Massachusetts, USA
Oliver D. King - Department of Pediatrics, Division of Genetics and Metabolism, University of California-Irvine, 2501 Hewitt Hall, Irvine, California 92696, USA,
Virginia E. Kimonis
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- Hong Joo Kim
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Contributions
H.J.K., N.C.K., E.D.R., C.C.W., J.S. and J.P.T. designed experiments. H.J.K., N.C.K., E.A.S., J.Moore, Z.D., K.S.M., B.F., S.L., A.M., A.P.K., Y.R.L. and A.F.F. performed the experiments. K.B.B., A.M.W., R.R., J.L.P., S.A.G., J.Q.T., B.N.S., S.T., A.-S.G., J.Miller, C.E.S., M.K., J.K., A.P., M.B. and V.E.K. provided patient clinical material, clinical evaluation, or evaluation of patient clinical material. H.J.K., N.C.K., Y.-D.W., R.C., B.J.T., A.D.G., O.D.K., E.D.R., J.S. and J.P.T. contributed to data analysis. E.D.R., O.D.K. and C.C.W. contributed to manuscript preparation. H.J.K., J.S. and J.P.T. wrote the manuscript.
Corresponding authors
Correspondence toJames Shorter or J. Paul Taylor.
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Kim, H., Kim, N., Wang, YD. et al. Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.Nature 495, 467–473 (2013). https://doi.org/10.1038/nature11922
- Received: 05 January 2012
- Accepted: 17 January 2013
- Published: 03 March 2013
- Issue Date: 28 March 2013
- DOI: https://doi.org/10.1038/nature11922