Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation
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Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndromeSystematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutationsNonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTuPost-transcriptional nucleotide modification and alternative folding of RNAThe human mitochondrial transcriptome and the RNA-binding proteins that regulate its expressionIn Human Pseudouridine Synthase 1 (hPus1), a C-Terminal Helical Insert Blocks tRNA from Binding in the Same Orientation as in the Pus1 Bacterial Homologue TruA, Consistent with Their Different Target SelectivitiesThe Saccharomyces cerevisiae Pus2 protein encoded by YGL063w ORF is a mitochondrial tRNA:Psi27/28-synthase.Pseudouridine synthase 1: a site-specific synthase without strict sequence recognition requirementsMatrix-assisted laser desorption/ionization mass spectrometry screening for pseudouridine in mixtures of small RNAs by chemical derivatization, RNase digestion and signature products.A complete landscape of post-transcriptional modifications in mammalian mitochondrial tRNAs.Metabolome and proteome changes with aging in Caenorhabditis elegans.SOD2 deficient erythroid cells up-regulate transferrin receptor and down-regulate mitochondrial biogenesis and metabolism.Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).Functional genomic analysis of human mitochondrial RNA processing.Mitochondrial transcript maturation and its disordersPleiotropic effects and compensation mechanisms determine tissue specificity in mitochondrial myopathy and sideroblastic anemia (MLASA)Pseudouridine: still mysterious, but never a fake (uridine)!Mitochondrial diseases: a nosological update.Partial activity is seen with many substitutions of highly conserved active site residues in human Pseudouridine synthase 1.Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations.Mass spectrometry of the fifth nucleoside: a review of the identification of pseudouridine in nucleic acids.A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD).Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.The Pseudouridine Synthase RPUSD4 Is an Essential Component of Mitochondrial RNA GranulesNuclear-encoded factors involved in post-transcriptional processing and modification of mitochondrial tRNAs in human disease.An investigation into eukaryotic pseudouridine synthases.A pseudouridine synthase module is essential for mitochondrial protein synthesis and cell viability.Eukaryotic stand-alone pseudouridine synthases - RNA modifying enzymes and emerging regulators of gene expression?A previously unidentified activity of yeast and mouse RNA:pseudouridine synthases 1 (Pus1p) on tRNAs.Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 geneFormation of a stalled early intermediate of pseudouridine synthesis monitored by real-time FRET.RNA Pseudouridylation in Physiology and Medicine: For Better and for Worse.TRMT1-Catalyzed tRNA Modifications Are Required for Redox Homeostasis To Ensure Proper Cellular Proliferation and Oxidative Stress Survival.The Dark Side of the Epitranscriptome: Chemical Modifications in Long Non-Coding RNAs.RNA methylation and diseases: experimental results, databases, Web servers and computational models.The mitochondrial epitranscriptome: the roles of RNA modifications in mitochondrial translation and human disease.Dual nature of pseudouridylation in U2 snRNA: Pus1p-dependent and Pus1p-independent activities in yeasts and higher eukaryotes.PUS1 isoform 1 transforms uridine-27; uridine-28 yielding pseudouridine in tRNA(Lys;Ser)Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.
P2860
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P2860
Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation
description
2005 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի մայիսին հրատարակված գիտական հոդված
@hy
article publié dans la revue scientifique Journal of Biological Chemistry
@fr
artículu científicu espublizáu en 2005
@ast
im Mai 2005 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2005/05/20)
@sk
vědecký článek publikovaný v roce 2005
@cs
wetenschappelijk artikel (gepubliceerd op 2005/05/20)
@nl
наукова стаття, опублікована в травні 2005
@uk
name
Mitochondrial myopathy and sid ...... loss of tRNA pseudouridylation
@ast
Mitochondrial myopathy and sid ...... loss of tRNA pseudouridylation
@en
Mitochondrial myopathy and sid ...... loss of tRNA pseudouridylation
@nl
type
label
Mitochondrial myopathy and sid ...... loss of tRNA pseudouridylation
@ast
Mitochondrial myopathy and sid ...... loss of tRNA pseudouridylation
@en
Mitochondrial myopathy and sid ...... loss of tRNA pseudouridylation
@nl
prefLabel
Mitochondrial myopathy and sid ...... loss of tRNA pseudouridylation
@ast
Mitochondrial myopathy and sid ...... loss of tRNA pseudouridylation
@en
Mitochondrial myopathy and sid ...... loss of tRNA pseudouridylation
@nl
P2093
P2860
P921
P3181
P356
P1476
Mitochondrial myopathy and sid ...... loss of tRNA pseudouridylation
@en
P2093
Cristina Bertolotto
Emebet Mengesha
Jeffrey R. Patton
Nathan Fischel-Ghodsian
Yelena Bykhovskaya
P2860
P304
19823–19828
P3181
P356
10.1074/JBC.M500216200
P407
P577
2005-05-20T00:00:00Z