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Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function.
Cell. 2014 Apr 24;157(3):636-50. doi: 10.1016/j.cell.2014.02.058.
Cell. 2014.
PMID: 24766809
Free PMC article.
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration.
Schaffer AE, Eggens VR, Caglayan AO, Reuter MS, Scott E, Coufal NG, Silhavy JL, Xue Y, Kayserili H, Yasuno K, Rosti RO, Abdellateef M, Caglar C, Kasher PR, Cazemier JL, Weterman MA, Cantagrel V, Cai N, Zweier C, Altunoglu U, Satkin NB, Aktar F, Tuysuz B, Yalcinkaya C, Caksen H, Bilguvar K, Fu XD, Trotta CR, Gabriel S, Reis A, Gunel M, Baas F, Gleeson JG.
Schaffer AE, et al.
Cell. 2014 Apr 24;157(3):651-63. doi: 10.1016/j.cell.2014.03.049.
Cell. 2014.
PMID: 24766810
Free PMC article.
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