Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1842, Issue 2, 2014, Pages 269-274

  De Rocco, Daniela ^a   Cerqua, Cristina ^b   Goffrini, Paola ^c   Russo, Giovanna ^d   Pastore, Annalisa ^e   Meloni, Francesca ^c   Nicchia, Elena ^a   Moraes, Carlos T ^f   Pecci, Alessandro ^g   Salviati, Leonardo ^b   Savoia, Anna ^a,h  

^a UNIVERSITY OF TRIESTE   (Italy)

^b UNIVERSITY OF PADOVA   (Italy)

^c UNIVERSITY OF PARMA   (Italy)

^d UNIVERSITY OF CATANIA   (Italy)

^e NATIONAL INSTITUTE FOR MEDICAL RESEARCH   (United Kingdom)

^f UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^g FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^h INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

Author keywords

Apoptosis; Cellular bioenergetics; Cytochrome c; Thrombocytopenia THC4

Indexed keywords

CYTOCHROME C; CYTOCHROME C OXIDASE; GENOMIC DNA; METHIONINE; UBIQUINOL CYTOCHROME C REDUCTASE;

ABSORPTION SPECTROSCOPY; AMINO ACID SUBSTITUTION; ANIMAL CELL; APOPTOSIS; ARABIDOPSIS THALIANA; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BLOOD SMEAR; BRUCELLA MELITENSIS; CASE REPORT; CELL CULTURE; CELL ENERGY; CELL LYSATE; CELL RESPIRATION; CELL TRANSFORMATION; CHILD; DROSOPHILA MELANOGASTER; FAMILY STUDY; GALLUS GALLUS; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC SCREENING; HETEROZYGOTE; HUMAN; IMMUNOBLOTTING; ITALY; MALE; MISSENSE MUTATION; MOUSE; MUS MUSCULUS; MUTATIONAL ANALYSIS; NEW ZEALAND; NONHUMAN; NUCLEOTIDE SEQUENCE; OXYGEN CONSUMPTION; PATHOGENESIS; PEDIGREE; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY CHAIN; SACCHAROMYCES CEREVISIAE; THROMBOCYTE COUNT; THROMBOCYTE STRUCTURE; THROMBOCYTE VOLUME; THROMBOCYTOPENIA; THROMBOCYTOPENIA 4; YEAST; ZEBRA FISH;

APOPTOSIS; CELLULAR BIOENERGETICS; CYTOCHROME C; THROMBOCYTOPENIA THC4;

AMINO ACID SEQUENCE; ANIMALS; APOPTOSIS; BASE SEQUENCE; CELLS, CULTURED; CHILD, PRESCHOOL; CYTOCHROMES C; DNA MUTATIONAL ANALYSIS; EMBRYO, MAMMALIAN; ENERGY METABOLISM; FAMILY HEALTH; FEMALE; FIBROBLASTS; HUMANS; LUNG; MALE; MICE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; OXYGEN CONSUMPTION; PEDIGREE; SACCHAROMYCES CEREVISIAE; SEQUENCE HOMOLOGY, AMINO ACID; THROMBOCYTOPENIA;

EID: 84890834763     PISSN: 09254439     EISSN: 1879260X     Source Type: Journal    
DOI: 10.1016/j.bbadis.2013.12.002     Document Type: Article

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