Missense Mutation in Pseudouridine Synthase 1 (PUS1) Causes Mitochondrial Myopathy and Sideroblastic Anemia (MLASA)

Author:

Bykhovskaya Yelena,Casas Kari,Mengesha Emebet,Inbal Aida,Fischel-Ghodsian Nathan

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference29 articles.

1. Identification of the Saccharomyces cerevisiae RNA:pseudouridine synthase responsible for formation of psi(2819) in 21S mitochondrial ribosomal RNA;Ansmant;Nucleic Acids Res,2000

2. The yeast gene YNL292w encodes a pseudouridine synthase (Pus4) catalyzing the formation of psi55 in both mitochondrial and cytoplasmic tRNAs;Becker;Nucleic Acids Res,1997

3. Amino acid properties and consequences of subsitutions;Betts,2003

4. Casas K, Bykhovskaya Y, Mengesha E, Wang D, Yang H, Taylor K, Inbal A, Fischel-Ghodsian N. Gene responsible for mitochondrial myopathy and sideroblastic anemia (MLASA) maps to chromosome 12q24.33. Am J Med Genet (in press)

5. Mitochondrial myopathy and sideroblastic anemia;Casas;Am J Med Genet,2004

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