Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).
暂无分享,去创建一个
Y. Bykhovskaya | Nathan Fischel-Ghodsian | K. Casas | Emebet Mengesha | Aida Inbal | Kari Casas | E. Mengesha | N. Fischel‐Ghodsian | Yelena Bykhovskaya | A. Inbal
[1] K. Taylor,et al. Gene responsible for mitochondrial myopathy and sideroblastic anemia (MSA) maps to chromosome 12q24.33 , 2004, American journal of medical genetics. Part A.
[2] R. Planta,et al. The yeast gene YNL292w encodes a pseudouridine synthase (Pus4) catalyzing the formation of psi55 in both mitochondrial and cytoplasmic tRNAs. , 1997, Nucleic acids research.
[3] D. Santi,et al. A Conserved Aspartate of tRNA Pseudouridine Synthase Is Essential for Activity and a Probable Nucleophilic Catalyst , 1998 .
[4] Mathias Sprinzl,et al. Compilation of tRNA sequences and sequences of tRNA genes , 1993, Nucleic Acids Res..
[5] Y. Motorin,et al. Identification of the Saccharomyces cerevisiae RNA:pseudouridine synthase responsible for formation of psi(2819) in 21S mitochondrial ribosomal RNA. , 2000, Nucleic acids research.
[6] N. Savarese,et al. A MERRF/MELAS Overlap Syndrome Associated with a New Point Mutation in the Mitochondrial DNA tRNALys Gene , 1993, European journal of human genetics : EJHG.
[7] Francesco Piazza,et al. Dyskeratosis Congenita and Cancer in Mice Deficient in Ribosomal RNA Modification , 2003, Science.
[8] S. Swann,et al. Critical Aspartic Acid Residues in Pseudouridine Synthases* , 1999, The Journal of Biological Chemistry.
[9] E. Hurt,et al. Pus1p-dependent tRNA Pseudouridinylation Becomes Essential When tRNA Biogenesis Is Compromised in Yeast* , 2001, The Journal of Biological Chemistry.
[10] T. Hubbard,et al. Using neural networks for prediction of the subcellular location of proteins. , 1998, Nucleic acids research.
[11] M. Barnes,et al. Bioinformatics for geneticists. , 2003 .
[12] J. Chen,et al. Mouse pseudouridine synthase 1: gene structure and alternative splicing of pre-mRNA. , 2000, The Biochemical journal.
[13] E. Hurt,et al. Cloning and characterization of the Schizosaccharomyces pombe tRNA:pseudouridine synthase Pus1p. , 2000, Nucleic acids research.
[14] E V Koonin,et al. Pseudouridine synthases: four families of enzymes containing a putative uridine-binding motif also conserved in dUTPases and dCTP deaminases. , 1996, Nucleic acids research.
[15] B. Garty,et al. Myopathy, lactic acidosis, and sideroblastic anemia: a new syndrome. , 1995, American journal of medical genetics.
[16] W R Pearson,et al. Comparison of DNA sequences with protein sequences. , 1997, Genomics.
[17] E. Hurt,et al. The yeast tRNA:pseudouridine synthase Pus1p displays a multisite substrate specificity. , 1998, RNA.
[18] K. Casas,et al. Mitochondrial myopathy and sideroblastic anemia , 2004, American journal of medical genetics. Part A.
[19] S. Dimauro,et al. A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF). , 1992, American journal of human genetics.
[20] Robert M. Stroud,et al. The structural basis for tRNA recognition and pseudouridine formation by pseudouridine synthase I , 2000, Nature Structural Biology.
[21] L. Marechal-Drouard,et al. Role of editing in plant mitochondrial transfer RNAs. , 2002, Gene.
[22] A. Poustka,et al. Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome. , 2000, The Journal of pediatrics.
[23] A. Poustka,et al. X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. , 1999, American journal of human genetics.
[24] J. Chen,et al. Cloning and characterization of a mammalian pseudouridine synthase. , 1999, RNA.
[25] A. Poustka,et al. Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal‐Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1 , 1999, British journal of haematology.
[26] D. Santi,et al. The mechanism of pseudouridine synthase I as deduced from its interaction with 5-fluorouracil-tRNA. , 1999, Proceedings of the National Academy of Sciences of the United States of America.
[27] K. Devriendt,et al. Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis , 2001, Human Genetics.