Mouse pseudouridine synthase 1: gene structure and alternative splicing of pre-mRNA
about
Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)Pseudouridine synthase 1: a site-specific synthase without strict sequence recognition requirementsPleiotropic effects and compensation mechanisms determine tissue specificity in mitochondrial myopathy and sideroblastic anemia (MLASA)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.Caenorhabditis elegans pseudouridine synthase 1 activity in vivo: tRNA is a substrate, but not U2 small nuclear RNAFormation of a stalled early intermediate of pseudouridine synthesis monitored by real-time FRET.Pus1p-dependent tRNA pseudouridinylation becomes essential when tRNA biogenesis is compromised in yeast.
P2860
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P2860
Mouse pseudouridine synthase 1: gene structure and alternative splicing of pre-mRNA
description
2000 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2000
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im Dezember 2000 veröffentlichter wissenschaftlicher Artikel
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scientific journal article
@en
vedecký článok (publikovaný 2000/12/01)
@sk
vědecký článek publikovaný v roce 2000
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wetenschappelijk artikel (gepubliceerd op 2000/12/01)
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наукова стаття, опублікована в грудні 2000
@uk
مقالة علمية (نشرت في ديسمبر 2000)
@ar
name
Mouse pseudouridine synthase 1: gene structure and alternative splicing of pre-mRNA
@ast
Mouse pseudouridine synthase 1: gene structure and alternative splicing of pre-mRNA
@en
Mouse pseudouridine synthase 1: gene structure and alternative splicing of pre-mRNA
@nl
type
label
Mouse pseudouridine synthase 1: gene structure and alternative splicing of pre-mRNA
@ast
Mouse pseudouridine synthase 1: gene structure and alternative splicing of pre-mRNA
@en
Mouse pseudouridine synthase 1: gene structure and alternative splicing of pre-mRNA
@nl
prefLabel
Mouse pseudouridine synthase 1: gene structure and alternative splicing of pre-mRNA
@ast
Mouse pseudouridine synthase 1: gene structure and alternative splicing of pre-mRNA
@en
Mouse pseudouridine synthase 1: gene structure and alternative splicing of pre-mRNA
@nl
P2860
P3181
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P1476
Mouse pseudouridine synthase 1: gene structure and alternative splicing of pre-mRNA
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P2093
P2860
P304
P3181
P356
10.1042/0264-6021:3520465
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P478
P577
2000-12-01T00:00:00Z