Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation

Journal of Biological Chemistry

Volumn 281, Issue 42, 2006, Pages 32048-32056

  Bertani, Ilaria ^a   Rusconi, Laura ^a   Bolognese, Fabrizio ^a   Forlani, Greta ^a   Conca, Barbara ^a   De Monte, Lucia ^b   Badaracco, Gianfranco ^a   Landsberger, Nicoletta ^a   Kilstrup Nielsen, Charlotte ^a  

^a UNIVERSITY OF INSUBRIA   (Italy)

^b SAN RAFFAELE HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CATALYSIS; ENZYME KINETICS; GENES; MUTAGENESIS; PROTEINS;

AUTOPHOSPHORYLATES; PHOSPHORYLATION; PROTEIN-PROTEIN INTERACTIONS; SYNTHETICALLY DESIGNED DERIVATIVES;

BIOCHEMISTRY;

CYCLIN DEPENDENT KINASE 5; GLUTAMIC ACID; METHYL CPG BINDING PROTEIN 2; THREONINE; TYROSINE;

ANIMAL CELL; ARTICLE; AUTOPHOSPHORYLATION; CELLULAR DISTRIBUTION; CONTROLLED STUDY; ENZYME ACTIVITY; GENE CONTROL; GENE INTERACTION; GENE MUTATION; GENOTYPE; HUMAN; HUMAN CELL; INFANTILE SPASM; MENTAL DEFICIENCY; NONHUMAN; NUCLEAR LOCALIZATION SIGNAL; OPEN READING FRAME; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN MOTIF; PROTEIN PHOSPHORYLATION;

ANIMALS; BRAIN; CELL NUCLEUS; CHROMOSOMES, HUMAN, X; HUMANS; INFANT, NEWBORN; MENTAL RETARDATION; METHYL-CPG-BINDING PROTEIN 2; MICE; MUTATION; NIH 3T3 CELLS; PROTEIN STRUCTURE, TERTIARY; PROTEIN-SERINE-THREONINE KINASES; SPASMS, INFANTILE;

EID: 33845988053     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M606325200     Document Type: Article

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