clp1 founder mutation links trna splicing and maturation to cerebellar development and...

12
CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration Ashleigh E. Schaffer, Veerle R.C. Eggens, Ahmet Okay Caglayan, Miriam S. Reuter, Eric Scott, Nicole G. Coufal, Jennifer L. Silhavy, Yuanchao Xue, Hulya Kayserili, Katsuhito Yasuno, Rasim Ozgur Rosti, Mostafa Abdellateef, Caner Caglar, Paul R. Kasher, J. Leonie Cazemier, Marian A. Weterman, Vincent Cantagrel, Na Cai, Christiane Zweier, Umut Altunoglu, N. Bilge Satkin, Fesih Aktar, Beyhan Tuysuz, Cengiz Yalcinkaya, Huseyin Caksen, Kaya Bilguvar, Xiang-Dong Fu, Christopher R. Trotta, Stacey Gabriel, André Reis, Murat Gunel, Frank Baas, Joseph G. Gleeson Cell Volume 157, Issue 3, Pages 651-663 (April 2014) DOI: 10.1016/j.cell.2014.03.049 Copyright © 2014 Elsevier Inc. Terms and Conditions

Upload: charleen-gilmore

Post on 23-Dec-2015

219 views

Category:

Documents


2 download

TRANSCRIPT

Page 1: CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration Ashleigh E. Schaffer, Veerle R.C. Eggens, Ahmet

CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration 

Ashleigh E. Schaffer, Veerle R.C. Eggens, Ahmet Okay Caglayan, Miriam S. Reuter, Eric Scott, Nicole G. Coufal, Jennifer L. Silhavy, Yuanchao Xue, Hulya Kayserili, Katsuhito Yasuno, Rasim Ozgur Rosti, Mostafa Abdellateef, Caner Caglar, Paul R. Kasher, J. Leonie Cazemier, Marian A. Weterman, Vincent Cantagrel, Na Cai, Christiane Zweier, Umut Altunoglu, N. Bilge Satkin, Fesih Aktar, Beyhan

Tuysuz, Cengiz Yalcinkaya, Huseyin Caksen, Kaya Bilguvar, Xiang-Dong Fu, Christopher R. Trotta, Stacey Gabriel, André Reis, Murat Gunel, Frank Baas, Joseph G. Gleeson 

Cell Volume 157, Issue 3, Pages 651-663 (April 2014)

DOI: 10.1016/j.cell.2014.03.049

Copyright © 2014 Elsevier Inc. Terms and Conditions

Page 2: CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration Ashleigh E. Schaffer, Veerle R.C. Eggens, Ahmet

Figure 1

Cell 2014 157, 651-663DOI: (10.1016/j.cell.2014.03.049) Copyright © 2014 Elsevier Inc. Terms and Conditions

Page 3: CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration Ashleigh E. Schaffer, Veerle R.C. Eggens, Ahmet

Figure 2

Cell 2014 157, 651-663DOI: (10.1016/j.cell.2014.03.049) Copyright © 2014 Elsevier Inc. Terms and Conditions

Page 4: CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration Ashleigh E. Schaffer, Veerle R.C. Eggens, Ahmet

Figure 3

Cell 2014 157, 651-663DOI: (10.1016/j.cell.2014.03.049) Copyright © 2014 Elsevier Inc. Terms and Conditions

Page 5: CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration Ashleigh E. Schaffer, Veerle R.C. Eggens, Ahmet

Figure 4

Cell 2014 157, 651-663DOI: (10.1016/j.cell.2014.03.049) Copyright © 2014 Elsevier Inc. Terms and Conditions

Page 6: CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration Ashleigh E. Schaffer, Veerle R.C. Eggens, Ahmet

Figure 5

Cell 2014 157, 651-663DOI: (10.1016/j.cell.2014.03.049) Copyright © 2014 Elsevier Inc. Terms and Conditions

Page 7: CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration Ashleigh E. Schaffer, Veerle R.C. Eggens, Ahmet

Figure S1

Cell 2014 157, 651-663DOI: (10.1016/j.cell.2014.03.049) Copyright © 2014 Elsevier Inc. Terms and Conditions

Page 8: CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration Ashleigh E. Schaffer, Veerle R.C. Eggens, Ahmet

Figure S2

Cell 2014 157, 651-663DOI: (10.1016/j.cell.2014.03.049) Copyright © 2014 Elsevier Inc. Terms and Conditions

Page 9: CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration Ashleigh E. Schaffer, Veerle R.C. Eggens, Ahmet

Figure S3

Cell 2014 157, 651-663DOI: (10.1016/j.cell.2014.03.049) Copyright © 2014 Elsevier Inc. Terms and Conditions

Page 10: CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration Ashleigh E. Schaffer, Veerle R.C. Eggens, Ahmet

Figure S4

Cell 2014 157, 651-663DOI: (10.1016/j.cell.2014.03.049) Copyright © 2014 Elsevier Inc. Terms and Conditions

Page 11: CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration Ashleigh E. Schaffer, Veerle R.C. Eggens, Ahmet

Figure S5

Cell 2014 157, 651-663DOI: (10.1016/j.cell.2014.03.049) Copyright © 2014 Elsevier Inc. Terms and Conditions

Page 12: CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration Ashleigh E. Schaffer, Veerle R.C. Eggens, Ahmet

Cell 2014 157, 651-663DOI: (10.1016/j.cell.2014.03.049) Copyright © 2014 Elsevier Inc. Terms and Conditions