CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration
Page 1 of 1
CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration
Jon Moulton Mon Apr 28, 2014 3:51 pm
Schaffer AE, Eggens VRC, 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 X-D, Trotta CR, Gabriel S, Reis A, Gunel M, Baas F, Gleeson JG. CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration. Cell. 2014;157(3):651-63. doi:10.1016/j.cell.2014.03.049
Jon Moulton- Posts : 5721
Join date : 2010-03-12
Age : 61
Location : Philomath, Oregon, USA -
Similar topics» Impairment of the tRNA splicing endonuclease subunit 54 (tsen54) gene causes neurological abnormalities and larval death in zebrafish models of Pontocerebellar Hypoplasia
» A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis
» A Novel Intra-U1 snRNP Cross-Regulation Mechanism: Alternative Splicing Switch Links U1C and U1-70K Expression
» Novel Mutation of LRP6 Identified in Chinese Han Population Links Canonical WNT Signaling to Neural Tube Defects
» A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features
» A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis
» A Novel Intra-U1 snRNP Cross-Regulation Mechanism: Alternative Splicing Switch Links U1C and U1-70K Expression
» Novel Mutation of LRP6 Identified in Chinese Han Population Links Canonical WNT Signaling to Neural Tube Defects
» A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features
Page 1 of 1
Permissions in this forum:
You cannot reply to topics in this forum|
|
|