Mitochondrial myopathy and sideroblastic anemia (MLASA): Missense mutation in the
pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudo-uridylation.
Note: 2-OA, 2-oxoadipate; 3-IS, 3-indoxyl sulphate; NAc, N-acetyl groups, PAG, phenylacetylglycine; pCG, p-cresol glucuronide; PU,
pseudouridine; SCFAs: short-chain fatty acids; TMA, trimethylamine; TMAO, trimethylamine oxide; [alpha]-KIC, [alpha]- ketoisocaproate; [alpha]-KIV, [alpha]-ketoisovalerate; [alpha]-KMV: [alpha]-keto-[beta]-methyl-N-valerate.
The laboratory uncovered an important function of
pseudouridine, the most common type of RNA modification in human cells.
Offer, "Simultaneous determination of purine metabolites, creatinine and
pseudouridine in ruminant urine by reversed-phase high-performance liquid chromatography," Journal of Chromatography B: Biomedical Sciences and Applications, vol.
Abbreviations [m.sup.6]A: [N.sup.6]-Methyladenosine [hm.sup.5]C: Hydroxymethylcytosine [PSI]:
Pseudouridine [m.sup.1]A: [N.sup.1]-Methyladenosine [m.sup.5]C: 5-Methylcytosine BS-Seq: Bisulfite sequencing MDA-MB-468: MDA468 MEF: Mouse embryo fibroblast MEF-[Dnmt2.sup.-]: Mouse embryo fibroblast with Dnmt2 knockdown WGBS: Whole genome bisulfite sequencing RRBS: Reduced representation bisulfite sequencing mRatio: Methylation ratio OR: Odds ratio DMS: Differential methylation site lncRNA: Long noncoding RNA sncRNA: Small noncoding RNA.
Chromosomal microarray (CMA), performed at the Mayo Clinic (Rochester, MN), demonstrated a 1.7 Mb deletion at Xp22.31 (Figure 2), which included 6 genes; STS,
pseudouridine 5'-phosphatase (PUDP), microRNA 4767 (MIR4767), variable charge, X-linked (VCX), patatin-like phospholipase domain containing 4 (PNPLA4), and microRNA 651 (MIR651), which was consistent with the diagnosis of XLI [4, 5].
Regulation of nuclear receptor activity by a
pseudouridine synthase through posttranscriptional modification of steroid receptor RNA activator.
The sequence of N2 resembled that of an Arabidopsis thaliana MYB transcription factor, that of N4 a multisubstrate
pseudouridine synthase 7-like gene from Malus x domestica, N5 a Gossypium hirsutum putative leucine zipper protein.
Nucleosides, as dimethylguanosine and
pseudouridine are components of RNA that enter the circulation in larger amounts in cases of enhanced cellular proliferation.
applied a GC-MS-based platform to measure 272 metabolite peaks in plasma obtained from 52 individuals with heart failure and 57 age-matched controls, and identified
pseudouridine as the most significant discriminator of disease status (25).