Dexamethasone partially rescues ataxia telangiectasia-mutated (ATM) deficiency in ataxia telangiectasia by promoting a shortened protein variant retaining kinase activity

Journal of Biological Chemistry

Volumn 287, Issue 49, 2012, Pages 41352-41363

  Menotta, Michele ^a   Biagiotti, Sara ^a   Bianchi, Marzia ^a   Chessa, Luciana ^b   Magnani, Mauro ^a  

^a UNIVERSITY OF URBINO   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ATAXIA TELANGIECTASIA; ATAXIA-TELANGIECTASIA MUTATED; BIALLELIC MUTATIONS; CODING SEQUENCES; DEXAMETHASONES; GENETIC DISEASE; KINASE ACTIVITY; KINASE DOMAINS; LYMPHOBLASTOID CELLS; MAMMALIAN CELLS; MOLECULAR MECHANISM; NEUROLOGICAL SYMPTOMS; PROTEIN VARIANTS; SHORT TERM;

CELL CULTURE; ENZYMES; GENES; HORMONES;

INTERNET PROTOCOLS;

COMPLEMENTARY DNA; DEXAMETHASONE; PROTEIN VARIANT;

ALTERNATIVE RNA SPLICING; ARTICLE; ATAXIA TELANGIECTASIA; ATAXIA TELANGIECTASIA MUTATED GENE; CELLULAR DISTRIBUTION; CONTROLLED STUDY; DRUG MECHANISM; ENZYME ACTIVITY; GENE FUNCTION; GENE SEQUENCE; GENETIC STABILITY; HUMAN; HUMAN CELL; LYMPHOBLASTOID CELL LINE; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; MUTATOR GENE; OPEN READING FRAME; PRIORITY JOURNAL; PROTEIN DOMAIN; SEQUENCE ANALYSIS;

ALLELES; ALTERNATIVE SPLICING; ATAXIA TELANGIECTASIA; CELL CYCLE PROTEINS; CELL LINE; CODON; CYCLOHEXIMIDE; DEXAMETHASONE; DNA-BINDING PROTEINS; FUNGAL PROTEINS; GENETIC VARIATION; GENOTYPE; GLUCOCORTICOIDS; HELA CELLS; HUMANS; LYMPHOCYTES; MODELS, GENETIC; MUTATION; OPEN READING FRAMES; PHOSPHOTRANSFERASES; PROTEIN STRUCTURE, TERTIARY; PROTEIN SYNTHESIS INHIBITORS; PROTEIN-SERINE-THREONINE KINASES; SINGLE-STRAND SPECIFIC DNA AND RNA ENDONUCLEASES; TUMOR SUPPRESSOR PROTEINS;

ATAXIA TELANGIECTASIA; MAMMALIA;

EID: 84870361153     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M112.344473     Document Type: Article

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