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PUS1 gene

Known as: PSEUDOURIDINE SYNTHASE 1, pseudouridylate synthase 1, PUS1 
National Institutes of Health

Related topics

Related topics

2 relations
PUS3 genePUSL1 gene

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2014
Highly Cited
2014
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.
Highly Cited
2014
Highly Cited
2014
Transcriptome-Wide Mapping of Pseudouridines: Pseudouridine Synthases Modify Specific mRNAs in S. cerevisiae
We developed a novel technique, called pseudouridine site identification sequencing (PSI-seq), for the transcriptome-wide mapping… 
Highly Cited
2010
Highly Cited
2010
Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.
Highly Cited
2010
Highly Cited
2010
Systematic molecular genetic analysis of congenital sideroblastic anemia: Evidence for genetic heterogeneity and identification of novel mutations
Sideroblastic anemias are heterogeneous congenital and acquired bone marrow disorders characterized by pathologic iron deposits… 
Highly Cited
2009
Highly Cited
2009
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)
Myopathy, lactic acidosis and sideroblastic anaemia (MLASA) is a rare condition that combines early-onset myopathy with lactic… 
Highly Cited
2006
Highly Cited
2006
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)
Introduction: Myopathy, lactic acidosis and sideroblastic anaemia (MLASA) is a rare condition that combines early-onset myopathy… 
Highly Cited
2004
Highly Cited
2004
Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).
Mitochondrial myopathy and sideroblastic anemia (MLASA) is a rare, autosomal recessive oxidative phosphorylation disorder… 
Highly Cited
2003
Highly Cited
2003
Interaction of the Anaphase-promoting Complex/Cyclosome and Proteasome Protein Complexes with Multiubiquitin Chain-binding Proteins*
Fission yeast Rhp23 and Pus1 represent two families of multiubiquitin chain-binding proteins that associate with the proteasome… 
Highly Cited
1998
Highly Cited
1998
The yeast tRNA:pseudouridine synthase Pus1p displays a multisite substrate specificity.
We have previously shown that the yeast gene PUS1 codes for a tRNA:pseudouridine synthase and that recombinant Pus1p catalyzes… 
Highly Cited
1996
Highly Cited
1996
Nuclear pore proteins are involved in the biogenesis of functional tRNA.
Los1p and Pus1p, which are involved in tRNA biogenesis, were found in a genetic screen for components interacting with the… 
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