Page last updated: 2024-08-21

pseudouridine and Luft Disease

pseudouridine has been researched along with Luft Disease in 4 studies

Research

Studies (4)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's4 (100.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Bykhovskaya, Y; Casas, K; Fischel-Ghodsian, N; Inbal, A; Mengesha, E1
Bertolotto, C; Bykhovskaya, Y; Fischel-Ghodsian, N; Mengesha, E; Patton, JR1
Fischel-Ghodsian, N; Ghosh, SK; Patton, JR; Shen, L; Spanjaard, RA; Zhao, X1
Bykhovskaya, Y; Fischel-Ghodsian, N; Mengesha, E1

Other Studies

4 other study(ies) available for pseudouridine and Luft Disease

ArticleYear
Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).
    American journal of human genetics, 2004, Volume: 74, Issue:6

    Topics: Amino Acid Sequence; Anemia, Sideroblastic; Biological Evolution; Bone Marrow; Cells, Cultured; Female; Genetic Linkage; Homozygote; Humans; Hydro-Lyases; Male; Mitochondrial Myopathies; Molecular Sequence Data; Muscle, Skeletal; Mutation, Missense; Pedigree; Pseudouridine; RNA, Transfer; Sequence Homology, Amino Acid

2004
Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation.
    The Journal of biological chemistry, 2005, May-20, Volume: 280, Issue:20

    Topics: Anemia, Sideroblastic; Base Sequence; Cell Line; Genes, Recessive; Humans; Hydro-Lyases; Mitochondrial Myopathies; Molecular Sequence Data; Mutation, Missense; Nucleic Acid Conformation; Pseudouridine; RNA, Transfer; RNA, Transfer, Lys; RNA, Transfer, Ser

2005
Pus3p- and Pus1p-dependent pseudouridylation of steroid receptor RNA activator controls a functional switch that regulates nuclear receptor signaling.
    Molecular endocrinology (Baltimore, Md.), 2007, Volume: 21, Issue:3

    Topics: 3T3 Cells; Anemia, Sideroblastic; Animals; Base Sequence; Cells, Cultured; Humans; Hydro-Lyases; Mice; Mitochondrial Myopathies; Models, Biological; Molecular Sequence Data; Nucleic Acid Conformation; Pseudouridine; Receptors, Cytoplasmic and Nuclear; Receptors, Retinoic Acid; RNA, Long Noncoding; RNA, Untranslated; Signal Transduction; Tissue Distribution

2007
Pleiotropic effects and compensation mechanisms determine tissue specificity in mitochondrial myopathy and sideroblastic anemia (MLASA).
    Molecular genetics and metabolism, 2007, Volume: 91, Issue:2

    Topics: Anemia, Sideroblastic; Animals; Cell Line; Cluster Analysis; Gene Expression Profiling; Humans; Hydro-Lyases; Iron; Lymphocytes; Mice; Mice, Knockout; Mitochondrial Myopathies; Mitochondrial Proteins; Oligonucleotide Array Sequence Analysis; Organ Specificity; Pedigree; Principal Component Analysis; Pseudouridine; Reverse Transcriptase Polymerase Chain Reaction; Ribosomal Proteins

2007