Disease on EC 4.2.1.70 - pseudouridylate synthase
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DISEASE 
TITLE OF PUBLICATION
LINK TO PUBMED
Acidosis, Lactic
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).
African Swine Fever
[Comparison of the antigenicity of African swine fever virus p35 protein as diagnostic antigen].
Anemia, Sideroblastic
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).
Anemia, Sideroblastic
Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood.
Bone Marrow Failure Disorders
PATHOGENIC NAP57 MUTATIONS DECREASE RIBONUCLEOPROTEIN ASSEMBLY IN DYSKERATOSIS CONGENITA.
Brain Ischemia
Calpain-induced proteolysis after transient global cerebral ischemia and ischemic tolerance in a rat model.
Carcinoid Tumor
Achaete-scute homologue-1 (ASH1) stimulates migration of lung cancer cells through Cdk5/p35 pathway.
Carcinoma, Hepatocellular
Oxidatively modified protein-disulfide isomerase-associated 3 promotes dyskerin pseudouridine synthase 1-mediated malignancy and survival of hepatocellular carcinoma cells.
Carcinoma, Squamous Cell
p35 protein as a prognostic factor of squamous cell carcinoma of the oesophagus.
Cerebral Infarction
Effect of baculovirus P35 protein on apoptosis in brain tissue of rats with acute cerebral infarction.
Colonic Neoplasms
Pseudouridylate Synthase 7 Promotes Cell Proliferation and Invasion in Colon Cancer Through Activating PI3K/AKT/mTOR Signaling Pathway.
Cowpox
Role and regulation of activation of caspases in cisplatin-induced injury to renal tubular epithelial cells.
Dyskeratosis Congenita
Development of metachronous rectal cancers in a young man with dyskeratosis congenita: a case report.
Dyskeratosis Congenita
Functional importance of motif I of pseudouridine synthases: mutagenesis of aligned lysine and proline residues.
Dyskeratosis Congenita
Landscape of the complete RNA chemical modifications in the human 80S ribosome.
Dyskeratosis Congenita
Linking pseudouridine synthases to growth, development and cell competition.
Dyskeratosis Congenita
Loss of function of the tumor suppressor DKC1 perturbs p27 translation control and contributes to pituitary tumorigenesis.
Dyskeratosis Congenita
PATHOGENIC NAP57 MUTATIONS DECREASE RIBONUCLEOPROTEIN ASSEMBLY IN DYSKERATOSIS CONGENITA.
Dyskeratosis Congenita
The human TruB family of pseudouridine synthase genes, including the Dyskeratosis Congenita 1 gene and the novel member TRUB1.
Ectromelia
[Changes in antigenic properties of the p35 protein of vaccinia virus in various protein fractions of the virion with the use of monospecific antisera]
Genetic Diseases, Inborn
Landscape of the complete RNA chemical modifications in the human 80S ribosome.
Hepatitis C
Immunohistochemical study of syndecan-1 down-regulation and the expression of P35 protein in oral lichen planus: a clinicopathologic correlation with hepatitis C infection in the Egyptian population.
Infections
Immunohistochemical study of syndecan-1 down-regulation and the expression of P35 protein in oral lichen planus: a clinicopathologic correlation with hepatitis C infection in the Egyptian population.
Infections
In vivo clearance of an intracellular bacterium, Francisella tularensis LVS, is dependent on the p40 subunit of interleukin-12 (IL-12) but not on IL-12 p70.
Infections
Stable cell lines expressing baculovirus P35: resistance to apoptosis and nutrient stress, and increased glycoprotein secretion.
Intellectual Disability
Biochemical insight into pseudouridine synthase 7 (PUS7) as a novel interactor of sirtuin, SIRT1.
Leukemia
Characterization of a new case of XMLV (Bxv1) contamination in the human cell line Hep2 (clone 2B).
Lichen Planus, Oral
Immunohistochemical study of syndecan-1 down-regulation and the expression of P35 protein in oral lichen planus: a clinicopathologic correlation with hepatitis C infection in the Egyptian population.
Microcephaly
Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood.
Muscular Diseases
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).
Neoplasms
Inhibitory effects of Rhenium-188-labeled Herceptin on prostate cancer cell growth: A possible radioimmunotherapy to prostate carcinoma.
Neoplasms
Loss of Drosophila pseudouridine synthase triggers apoptosis-induced proliferation and promotes cell-nonautonomous EMT.
Neoplasms
Loss of function of the tumor suppressor DKC1 perturbs p27 translation control and contributes to pituitary tumorigenesis.
Neoplasms
Oxidatively modified protein-disulfide isomerase-associated 3 promotes dyskerin pseudouridine synthase 1-mediated malignancy and survival of hepatocellular carcinoma cells.
Neoplasms
The baculovirus p35 protein inhibits Fas- and tumor necrosis factor-induced apoptosis.
Persistent Infection
mRNA pseudouridylation affects RNA metabolism in the parasite Toxoplasma gondii.
Sarcoma
Altered expression and distribution of the cytoskeletal-associated p35 protein in NIH 3T3 cells transformed with the Harvey sarcoma virus v-ras oncogene.
Starvation
Functional Disruption of a Chloroplast Pseudouridine Synthase Desensitizes Arabidopsis Plants to Phosphate Starvation.
Tuberculosis
Crystal structure of the apo forms of psi 55 tRNA pseudouridine synthase from Mycobacterium tuberculosis: a hinge at the base of the catalytic cleft.
Vaccinia
[Changes in antigenic properties of the p35 protein of vaccinia virus in various protein fractions of the virion with the use of monospecific antisera]
Vaccinia
[Identification of the gene for the immunodominant p35 protein from vaccinia virus]
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