Mitochondrial myopathy and sideroblastic anemia (MLASA): Missense mutation in the pseudouridine
synthase 1 (PUS1) gene is associated with the loss of tRNA pseudo-uridylation.
Studies have reported that a biomarker panel that includes 5 metabolites: azelaic acid, 2,4-dihydroxypyrimidine, betaalanine, pseudouridine
and alpha-hydroxybutyrate can be a candidate model model (37).
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].
Deepak et al., "Serum metabolomics reveals many novel metabolic markers of heart failure, including pseudouridine
and 2-oxoglutarate," Metabolomics, vol.
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).