Mitochondrial myopathy and sideroblastic anemia (MLASA): Missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation

Journal of Biological Chemistry

Volumn 280, Issue 20, 2005, Pages 19823-19828

  Patton, Jeffrey R ^a   Bykhovskaya, Yelena ^b   Mengesha, Emebet ^b   Bertolotto, Cristina ^b   Fischel Ghodsian, Nathan ^b,c  

^a UNIVERSITY OF SOUTH CAROLINA SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c CEDARS SINAI MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ENZYMES; GENES; GENETIC ENGINEERING; HISTOLOGY; IMMUNOLOGY; OXIDATION; PATIENT TREATMENT; RNA;

IMMUNOHISTOCHEMICAL STAINING; MITOCHONDRIAL MYOPATHY; PUS1 GENE ENCODES; SIDEROBLASTIC ANEMIA (MLASA);

BIOCHEMISTRY;

PSEUDOURIDINE; PSEUDOURIDINE SYNTHASE 1; RNA; SYNTHETASE; TRANSFER RNA; UNCLASSIFIED DRUG; HYDROLYASE; LYSINE TRANSFER RNA; PSEUDOURIDYLATE SYNTHETASE; SERINE TRANSFER RNA;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELL NUCLEUS; CONTROLLED STUDY; CYTOPLASM; ENZYME ACTIVITY; GENE; HUMAN; HUMAN CELL; IMMUNOHISTOCHEMISTRY; LYMPHOBLASTOID CELL; MISSENSE MUTATION; MITOCHONDRIAL MYOPATHY; MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA; MITOCHONDRION; NUCLEOTIDE SEQUENCE; OXIDATIVE PHOSPHORYLATION; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN LOCALIZATION; PUS1 GENE; RNA ISOLATION; SIDEROBLASTIC ANEMIA; CELL LINE; CHEMISTRY; CONFORMATION; ENZYMOLOGY; GENETICS; MOLECULAR GENETICS; RECESSIVE GENE;

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;

EID: 21244449941     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.M500216200     Document Type: Article

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