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TRMU is a member of the trmU family.
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The A10S mutation caused marked decreases in 2-thiouridine modification of U34 of tRNA(Lys), tRNA(Glu) and tRNA(Gln) However, the A10S mutation mildly increased the aminoacylated efficiency of tRNAs
Results show that post-transcriptional expression of GTPBP3 (显示 GTPBP3 蛋白), MTO1 and TRMU genes is down-regulated, leading to mt-tRNA hypomodification and contributing to mitochondrial dysfunction in MELAS cybrids.
An additional, heterozygous mutation was detected in TRMU/MTU1. Although subject myoblasts and myotubes contained half the normal levels of TRMU, thiolation of mitochondrial tRNAs was normal.
MTU1 is not required for mitochondrial translation.
identification and characterization of a tRNA-modifying enzyme MTU1 (mitochondrial tRNA-specific 2-thiouridylase 1) that is responsible for the 2-thiolation of the wobble position in human and yeast mt tRNAs
MTO2 may act as a modifier gene, modulating the phenotypic expression of the deafness-associated A1491G or C1409T mutation in mitochondrial 12 S rRNA
These observations suggest that human TRMU may modulate the phenotypic manifestation of the deafness-associated mitochondrial 12S rRNA mutations.
The mutated TRMU, related to transfer RNA modification, acting as a modifier factor modulates the phenotypic manifestation of deafness-associated 12S rRNA mutations.
TRMU G28T single nucleotide polymorphism is present in 1 of the studied families for neurosensory nonsyndromic deafness
There is a window of time whereby patients with TRMU mutations are at increased risk of developing liver failure.
This gene is a member of the trmU family. It encodes a mitochondria-specific tRNA-modifying enzyme that is required for the 2-thio modification of 5-taurinomethyl-2-thiouridine tRNA-Lys on the wobble position of the anticodon.
, mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase
, mitochondrial tRNA-specific 2-thiouridylase 1
, tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase 1