Name | Neuro-developmental disorder (C:m5C) |
Description | Loss of m5C causes the accumulation of tRNA fragments in the absence of NSUN2. Therefore, reduction in protein translation rates and activation in stress pathways leading to reduced cell size and increased apoptosis of cortical, hippocampal, and striatal neurons occurred. |
Related RNA reaction | C:m5C |
Found in RNA | tRNA |
Modified Transcript | None |
Mapping Technology | tRNA-seq,ChIP-seq, Bisulphite-seq |
Quantification techniques | qPCR |
Acronym | Full name | Enzyme Role | Organism | Comment |
---|---|---|---|---|
NSUN2 | NOP2/Sun RNA methyltransferase 2 | None | Homo sapiens |
ID | Title | Authors | Journal | Details | ||
---|---|---|---|---|---|---|
1084 | Aberrant methylation of tRNAs links cellular stress to neuro-developmental disorders. | Sabine Dietmann,Joana V Flores,Shobbir Hussain,Claudia Kutter,Peter Humphreys,Margus Lukk,Patrick Lombard,Lucas Treps,Martyna Popis,Stefanie Kellner,Sabine M Hölter,Lillian Garrett,Wolfgang Wurst,Lore Becker,Thomas Klopstock,Helmut Fuchs,Valerie Gailus-Durner,Martin Hrabĕ de Angelis,Ragnhildur T Káradóttir,Mark Helm,Jernej Ule,Joseph G Gleeson,Duncan T Odom, | EMBO J | [details] | 25063673 | 10.15252/embj.201489282 |