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PUS1 gene
Known as:
PSEUDOURIDINE SYNTHASE 1
, pseudouridylate synthase 1
, PUS1
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National Institutes of Health
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Related topics
Related topics
2 relations
PUS3 gene
PUSL1 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.
L. Burrage
,
Sha Tang
,
+11 authors
F. Scaglia
Molecular Genetics and Metabolism
2014
Corpus ID: 19790114
Highly Cited
2014
Highly Cited
2014
Transcriptome-Wide Mapping of Pseudouridines: Pseudouridine Synthases Modify Specific mRNAs in S. cerevisiae
A. Lovejoy
,
Daniel P. Riordan
,
P. Brown
PLoS ONE
2014
Corpus ID: 15515479
We developed a novel technique, called pseudouridine site identification sequencing (PSI-seq), for the transcriptome-wide mapping…
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Highly Cited
2010
Highly Cited
2010
Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.
L. Riley
,
S. Cooper
,
+9 authors
J. Christodoulou
American Journal of Human Genetics
2010
Corpus ID: 22487955
Highly Cited
2010
Highly Cited
2010
Systematic molecular genetic analysis of congenital sideroblastic anemia: Evidence for genetic heterogeneity and identification of novel mutations
A. Bergmann
,
D. Campagna
,
+4 authors
E. Neufeld
Pediatric Blood & Cancer
2010
Corpus ID: 206331552
Sideroblastic anemias are heterogeneous congenital and acquired bone marrow disorders characterized by pathologic iron deposits…
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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)
E. Fernández-Vizarra
,
A. Berardinelli
,
L. Valente
,
V. Tiranti
,
M. Zeviani
BMJ Case Reports
2009
Corpus ID: 24801027
Myopathy, lactic acidosis and sideroblastic anaemia (MLASA) is a rare condition that combines early-onset myopathy with lactic…
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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)
E. Fernández-Vizarra
,
A. Berardinelli
,
L. Valente
,
V. Tiranti
,
M. Zeviani
Journal of Medical Genetics
2006
Corpus ID: 25980437
Introduction: Myopathy, lactic acidosis and sideroblastic anaemia (MLASA) is a rare condition that combines early-onset myopathy…
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Highly Cited
2004
Highly Cited
2004
Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).
Y. Bykhovskaya
,
K. Casas
,
E. Mengesha
,
A. Inbal
,
N. Fischel‐Ghodsian
American Journal of Human Genetics
2004
Corpus ID: 41625787
Mitochondrial myopathy and sideroblastic anemia (MLASA) is a rare, autosomal recessive oxidative phosphorylation disorder…
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Highly Cited
2003
Highly Cited
2003
Interaction of the Anaphase-promoting Complex/Cyclosome and Proteasome Protein Complexes with Multiubiquitin Chain-binding Proteins*
M. Seeger
,
R. Hartmann-Petersen
,
+4 authors
C. Gordon
Journal of Biological Chemistry
2003
Corpus ID: 19541557
Fission yeast Rhp23 and Pus1 represent two families of multiubiquitin chain-binding proteins that associate with the proteasome…
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Highly Cited
1998
Highly Cited
1998
The yeast tRNA:pseudouridine synthase Pus1p displays a multisite substrate specificity.
Y. Motorin
,
G. Keith
,
+4 authors
H. Grosjean
RNA: A publication of the RNA Society
1998
Corpus ID: 24623636
We have previously shown that the yeast gene PUS1 codes for a tRNA:pseudouridine synthase and that recombinant Pus1p catalyzes…
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Highly Cited
1996
Highly Cited
1996
Nuclear pore proteins are involved in the biogenesis of functional tRNA.
G. Simos
,
H. Tekotte
,
+4 authors
E. Hurt
EMBO Journal
1996
Corpus ID: 7712042
Los1p and Pus1p, which are involved in tRNA biogenesis, were found in a genetic screen for components interacting with the…
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