Human mitochondrial pyrophosphatase: cDNA cloning and analysis of the gene in patients with mtDNA depletion syndromes

Genomics

Volumn 87, Issue 3, 2006, Pages 410-416

  Curbo, Sophie ^a   Lagier Tourenne, Clotilde ^b   Carrozzo, Rosalba ^c   Palenzuela, Lluis ^b   Lucioli, Simona ^c   Hirano, Michio ^b   Santorelli, Filippo ^c   Arenas, Joaquin ^d   Karlsson, Anna ^a   Johansson, Magnus ^a  

^a KAROLINSKA INSTITUTE   (Sweden)

^b New York Presbyterian Columbia University Medical Center   (United States)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^d HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

Author keywords

Human pyrophosphatase; Inorganic pyrophosphate; Mitochondrial depletion syndrome; Mitochondrial DNA; Mitochondrial enzyme; Mitochondrial localization

Indexed keywords

ACID PROTEIN; AMINO ACID; COMPLEMENTARY DNA; INORGANIC PYROPHOSPHATASE; INORGANIC PYROPHOSPHATASE 1; INORGANIC PYROPHOSPHATASE 2; MITOCHONDRIAL DNA; UNCLASSIFIED DRUG;

AMINO TERMINAL SEQUENCE; ARTICLE; CHROMOSOME 4Q; DNA LIBRARY; ENZYME ACTIVITY; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; GENE TARGETING; GENETIC ANALYSIS; HUMAN; HUMAN TISSUE; HYDROLYSIS; KIDNEY PARENCHYMA; LIVER; MITOCHONDRIAL DNA DEPLETION SYNDROME; MOLECULAR CLONING; MUSCLE TISSUE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN FUNCTION; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY;

AMINO ACID SEQUENCE; BLOTTING, NORTHERN; CALCIUM CHLORIDE; CELL LINE, TUMOR; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 4; CLONING, MOLECULAR; DIPHOSPHATES; DNA, COMPLEMENTARY; FEMALE; GENE EXPRESSION REGULATION, ENZYMOLOGIC; GREEN FLUORESCENT PROTEINS; HELA CELLS; HUMANS; HYDROLYSIS; INORGANIC PYROPHOSPHATASE; ISOENZYMES; MITOCHONDRIAL MYOPATHIES; MITOCHONDRIAL PROTEINS; MOLECULAR SEQUENCE DATA; PROTEIN SORTING SIGNALS; PYROPHOSPHATASES; RECOMBINANT FUSION PROTEINS; RNA, MESSENGER; RNA, SMALL INTERFERING; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA; SEQUENCE HOMOLOGY, AMINO ACID; SYNDROME; TRANSFECTION;

EID: 32244433583     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ygeno.2005.09.017     Document Type: Article

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