tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy.
about
Lost in Translation: Defects in Transfer RNA Modifications and Neurological Disorders.Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.The t6A modification acts as a positive determinant for the anticodon nuclease PrrC, and is distinctively nonessential in Streptococcus mutans.Regulation of mRNA Translation in Neurons-A Matter of Life and Death.Structure and mechanism of a bacterial t6A biosynthesis system.mRNA Translation Gone Awry: Translation Fidelity and Neurological Disease.Structure-function analysis of Sua5 protein reveals novel functional motifs required for the biosynthesis of the universal t6A tRNA modification.The structure of the TsaB/TsaD/TsaE complex reveals an unexpected mechanism for the bacterial t6A tRNA-modification.CO2-sensitive tRNA modification associated with human mitochondrial disease.
P2860
Q33650163-A3EA7F61-5A91-4333-947A-BE06704CD311Q40094779-75BD1882-5F70-45CF-A29B-A77452A7EBCEQ40115471-34E4722F-A7E4-4A51-A1FA-C9CD48C8E44EQ46818543-30B7C4EC-8253-4C98-9F0B-2B3AC063D977Q47197880-5ED896C6-2F5A-44A9-897B-178972BE23EBQ49906097-781B2150-199D-44FC-A70E-270B952782BDQ52591099-5902AF14-383C-4F02-B0FB-E4D847D3077BQ55251268-FEC325B8-25FA-46C9-8BDC-3CAD6CBD07AEQ55332430-B8059A13-C9FB-437A-88A8-89AF332674D9
P2860
tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy.
description
2017 nî lūn-bûn
@nan
2017年の論文
@ja
2017年論文
@yue
2017年論文
@zh-hant
2017年論文
@zh-hk
2017年論文
@zh-mo
2017年論文
@zh-tw
2017年论文
@wuu
2017年论文
@zh
2017年论文
@zh-cn
name
tRNA N6-adenosine threonylcarb ...... eration and renal tubulopathy.
@en
type
label
tRNA N6-adenosine threonylcarb ...... eration and renal tubulopathy.
@en
prefLabel
tRNA N6-adenosine threonylcarb ...... eration and renal tubulopathy.
@en
P2093
P2860
P356
P1476
tRNA N6-adenosine threonylcarb ...... eration and renal tubulopathy.
@en
P2093
Aiman Arraf
Asas Ta-Shma
Drago Haas
Jennifer F Hu
Jo Marie Bacusmo
Laurence Prunetti
Orly Elpeleg
Peter C Dedon
Simon Edvardson
P2860
P2888
P304
P356
10.1038/EJHG.2017.30
P577
2017-03-08T00:00:00Z
P6179
1084127995