Cleavage of the BRCT tandem domains of nibrin by the 657del5 mutation affects the DNA damage response less than the Arg215Trp mutation

IUBMB Life

Volumn 64, Issue 10, 2012, Pages 853-861

  Mendez, Gina ^a   Cilli, Domenica ^a   Berardinelli, Francesco ^a   Viganotti, Mara ^b   Ascenzi, Paolo ^a   Tanzarella, Caterina ^a   Antoccia, Antonio ^a   Di Masi, Alessandra ^a  

^a ROMA TRE UNIVERSITY   (Italy)

^b IRCCS FONDAZIONE SANTA LUCIA   (Italy)

Author keywords

657del5 nibrin mutation; Arg215Trp nibrin mutation; BRCT tandem domains; DNA damage response; DNA double strand breaks; MRN complex; nibrin; Nijmegen breakage syndrome

Indexed keywords

ATM PROTEIN; DNA; NIBRIN; PROTEIN P53;

ARTICLE; BREAST CANCER 1 CARBOXY TERMINAL DOMAIN; CARBOXY TERMINAL SEQUENCE; CONTROLLED STUDY; DNA DAMAGE; DNA STRAND BREAKAGE; GENE MUTATION; HUMAN; HUMAN CELL; PROTEIN CLEAVAGE; PROTEIN PHOSPHORYLATION;

BRCA1 PROTEIN; CELL CYCLE CHECKPOINTS; CELL CYCLE PROTEINS; CELL LINE, TRANSFORMED; CHROMOSOMAL PROTEINS, NON-HISTONE; DNA BREAKS, DOUBLE-STRANDED; DNA REPAIR ENZYMES; DNA-BINDING PROTEINS; GENE EXPRESSION; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MUTATION; NIJMEGEN BREAKAGE SYNDROME; NUCLEAR PROTEINS; PHENOTYPE; PHOSPHORYLATION; PROTEIN STRUCTURE, TERTIARY; PROTEIN-SERINE-THREONINE KINASES; SIGNAL TRANSDUCTION; TUMOR SUPPRESSOR PROTEIN P53; TUMOR SUPPRESSOR PROTEINS;

ATAXIA TELANGIECTASIA;

EID: 84866654189     PISSN: 15216543     EISSN: 15216551     Source Type: Journal    
DOI: 10.1002/iub.1077     Document Type: Article

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