Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA) - Wikidata - awgldk - TriplyDB

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)

http://www.wikidata.org/entity/Q24648101

about

Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficiencies Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu Nucleoside modifications in the regulation of gene expression: focus on tRNA Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery Evolutionary conservation and expression of human RNA-binding proteins and their role in human genetic disease Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition Pseudouridine synthase 1: a site-specific synthase without strict sequence recognition requirements Haematological abnormalities in mitochondrial disorders.A compendium of human mitochondrial gene expression machinery with links to disease.Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy.A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature.Biogenesis of iron-sulfur clusters in mammalian cells: new insights and relevance to human disease.Mitochondrial transcript maturation and its disorders Mechanism of protein biosynthesis in mammalian mitochondria.Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations.Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency.Mass spectrometry of the fifth nucleoside: a review of the identification of pseudouridine in nucleic acids.Neonatal mitochondrial encephaloneuromyopathy due to a defect of mitochondrial protein synthesis TRNT1 deficiency: clinical, biochemical and molecular genetic features The Pseudouridine Synthase RPUSD4 Is an Essential Component of Mitochondrial RNA Granules Nuclear-encoded factors involved in post-transcriptional processing and modification of mitochondrial tRNAs in human disease.Eukaryotic stand-alone pseudouridine synthases - RNA modifying enzymes and emerging regulators of gene expression?Dealing with an Unconventional Genetic Code in Mitochondria: The Biogenesis and Pathogenic Defects of the 5-Formylcytosine Modification in Mitochondrial tRNAMet.Regulation of Mammalian Mitochondrial Gene Expression: Recent Advances.Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.Sideroblastic anaemia and primary adrenal insufficiency due to a mitochondrial respiratory chain disorder in the absence of mtDNA deletion.Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene 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.Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.Iron metabolism in erythroid cells and patients with congenital sideroblastic anemia.The Role of Noncoding RNA Pseudouridylation in Nuclear Gene Expression Events.A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation.PUS1 isoform 2 transforms uridine residues to pseudouridine in the anticodon stems of tRNAs 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

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)

http://www.wikidata.org/entity/Q24648101

description

2007 nî lūn-bûn

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2007 թուականի Մարտին հրատարակուած գիտական յօդուած

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2007 թվականի մարտին հրատարակված գիտական հոդված

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2007年の論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年論文

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2007年论文

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name

Nonsense mutation in pseudouri ...... sideroblastic anaemia (MLASA)

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Nonsense mutation in pseudouri ...... sideroblastic anaemia (MLASA)

@en

Nonsense mutation in pseudouri ...... sideroblastic anaemia (MLASA)

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type

label

Nonsense mutation in pseudouri ...... sideroblastic anaemia (MLASA)

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Nonsense mutation in pseudouri ...... sideroblastic anaemia (MLASA)

@en

Nonsense mutation in pseudouri ...... sideroblastic anaemia (MLASA)

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prefLabel

Nonsense mutation in pseudouri ...... sideroblastic anaemia (MLASA)

@ast

Nonsense mutation in pseudouri ...... sideroblastic anaemia (MLASA)

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Nonsense mutation in pseudouri ...... sideroblastic anaemia (MLASA)

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Journal of Medical Genetics

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Nonsense mutation in pseudouri ...... sideroblastic anaemia (MLASA)

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Lucia Valente

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P2860

Protein measurement with the Folin phenol reagent

Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain

Cloning and characterization of a mammalian pseudouridine synthase

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).

Characterization of yeast protein Deg1 as pseudouridine synthase (Pus3) catalyzing the formation of psi 38 and psi 39 in tRNA anticodon loop.

Nuclear pore proteins are involved in the biogenesis of functional tRNA

Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation

Regulation of nuclear receptor activity by a pseudouridine synthase through posttranscriptional modification of steroid receptor RNA activator

Mouse pseudouridine synthase 1: gene structure and alternative splicing of pre-mRNA

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173-80

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Massimo Zeviani

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Erika Fernandez-Vizarra

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