RASopathy-associated CBL germline mutations cause aberrant ubiquitylation and trafficking of EGFR

Human Mutation

Volumn 35, Issue 11, 2014, Pages 1372-1381

  Brand, Kristina ^a   Kentsch, Hendrik ^a   Glashoff, Christina ^a   Rosenberger, Georg ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

C Cbl; CBL; EGFR trafficking; Noonan syndrome; RASopathies

Indexed keywords

EPIDERMAL GROWTH FACTOR RECEPTOR; MITOGEN ACTIVATED PROTEIN KINASE; RAS PROTEIN; CBL PROTEIN; PROTEIN P21;

AMINO ACID SUBSTITUTION; ARTICLE; CBL GENE; CONTROLLED STUDY; COS 7 CELL LINE; ENZYME PHOSPHORYLATION; GENE; GERMLINE MUTATION; INTERNALIZATION; NOONAN SYNDROME; NUCLEOTIDE SEQUENCE; SIGNAL TRANSDUCTION; UBIQUITINATION; ANIMAL; GENE EXPRESSION; GENETIC ASSOCIATION; GENETICS; HUMAN; METABOLISM; MISSENSE MUTATION; PROTEIN DEGRADATION; PROTEIN TRANSPORT;

AMINO ACID SUBSTITUTION; ANIMALS; GENE EXPRESSION; GENETIC ASSOCIATION STUDIES; GERM-LINE MUTATION; HUMANS; MITOGEN-ACTIVATED PROTEIN KINASES; MUTATION, MISSENSE; NOONAN SYNDROME; PROTEIN TRANSPORT; PROTEOLYSIS; PROTO-ONCOGENE PROTEINS C-CBL; PROTO-ONCOGENE PROTEINS P21(RAS); RECEPTOR, EPIDERMAL GROWTH FACTOR; SIGNAL TRANSDUCTION; UBIQUITINATION;

EID: 84917743806     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22682     Document Type: Article

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