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Results 1 - 10 of 11 > >>
EC Number Disease PubMed ID Title of Publication Category Confidence Level
Display the word mapDisplay the reaction diagram Show all sequences 5.4.99.B22Anemia, Sideroblastic 15108122 Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). unassigned 0
Display the word mapDisplay the reaction diagram Show all sequences 5.4.99.B22Anemia, Sideroblastic 15772074 Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation. causal interaction
unassigned
4
0
Display the word mapDisplay the reaction diagram Show all sequences 5.4.99.B22Anemia, Sideroblastic 17170069 Pus3p- and Pus1p-dependent pseudouridylation of steroid receptor RNA activator controls a functional switch that regulates nuclear receptor signaling. unassigned 0
Display the word mapDisplay the reaction diagram Show all sequences 5.4.99.B22Anemia, Sideroblastic 27197761 Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations. ongoing research
unassigned
2
0
Display the word mapDisplay the reaction diagram Show all sequences 5.4.99.B22Breast Neoplasms 32868896 The nucleolar-related protein Dyskerin pseudouridine synthase 1 (DKC1) predicts poor prognosis in breast cancer. diagnostic usage
ongoing research
therapeutic application
unassigned
3
1
1
0
Display the word mapDisplay the reaction diagram Show all sequences 5.4.99.B22Colorectal Neoplasms 34026451 Dual Inhibition of DKC1 and MEK1/2 Synergistically Restrains the Growth of Colorectal Cancer Cells. causal interaction
therapeutic application
unassigned
1
1
0
Display the word mapDisplay the reaction diagram Show all sequences 5.4.99.B22Dyskeratosis Congenita 29801475 Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report. causal interaction
unassigned
4
0
Display the word mapDisplay the reaction diagram Show all sequences 5.4.99.B22Mitochondrial Myopathies 15108122 Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). unassigned 0
Display the word mapDisplay the reaction diagram Show all sequences 5.4.99.B22Mitochondrial Myopathies 15772074 Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation. causal interaction
unassigned
4
0
Display the word mapDisplay the reaction diagram Show all sequences 5.4.99.B22Mitochondrial Myopathies 17170069 Pus3p- and Pus1p-dependent pseudouridylation of steroid receptor RNA activator controls a functional switch that regulates nuclear receptor signaling. unassigned 0
Results 1 - 10 of 11 > >>