CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration.

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Published in Cell on April 24, 2014

Authors

Ashleigh E Schaffer1, Veerle R C Eggens2, Ahmet Okay Caglayan3, Miriam S Reuter4, Eric Scott1, Nicole G Coufal1, Jennifer L Silhavy1, Yuanchao Xue5, Hulya Kayserili6, Katsuhito Yasuno3, Rasim Ozgur Rosti1, Mostafa Abdellateef1, Caner Caglar3, Paul R Kasher2, J Leonie Cazemier2, Marian A Weterman2, Vincent Cantagrel7, Na Cai1, Christiane Zweier4, Umut Altunoglu6, N Bilge Satkin6, Fesih Aktar8, Beyhan Tuysuz9, Cengiz Yalcinkaya10, Huseyin Caksen11, Kaya Bilguvar3, Xiang-Dong Fu5, Christopher R Trotta12, Stacey Gabriel13, André Reis4, Murat Gunel3, Frank Baas2, Joseph G Gleeson14

Author Affiliations

1: Neurogenetics Laboratory, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
2: Department of Genome Analysis, Academic Medical Center, Meibergdreef 9,1105AZ Amsterdam, the Netherlands.
3: Yale Program on Neurogenetics, Departments of Neurosurgery, Neurobiology, and Genetics, Yale University School of Medicine, New Haven, CT 06510, USA.
4: Institute of Human Genetics, Universität Erlangen-Nürnberg, Schwabachanlage 10, Erlangen 91054, Germany.
5: Cellular Molecular Medicine, University of California, San Diego, La Jolla, CA 92093, USA.
6: Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Millet Caddesi, 34093 Fatih/Istanbul, Turkey.
7: Neurogenetics Laboratory, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA; Institut IMAGINE, INSERM U1163, Faculté Paris-Descartes, 75015 Paris, France.
8: Department of Pediatrics, Diyarbakir State Hospital, 21100 Diyarbakir, Turkey.
9: Department of Pediatric Genetics, Cerrahpaşa Medical School, Istanbul University, 34098 Istanbul, Turkey.
10: Department of Neurology, Division of Child Neurology, Cerrahpaşa Medical School, Istanbul University, 34098 Istanbul, Turkey.
11: Department of Pediatrics, Meram Medical School, Necmettin Erbakan University, 42080 Konya, Turkey.
12: PTC Therapeutics, South Plainfield, NJ 07080, USA.
13: Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142, USA.
14: Neurogenetics Laboratory, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA. Electronic address: jogleeson@ucsd.edu.

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