SHANK3 gene mutations associated with autism facilitate ligand binding to the shank3 ankyrin repeat region

Journal of Biological Chemistry

Volumn 288, Issue 37, 2013, Pages 26697-26708

  Mameza, Marie Germaine ^a   Dvoretskova, Elena ^b   Bamann, Margarete ^a   Hönck, Hans Hinrich ^a   Güler, Türkan ^a   Boeckers, Tobias M ^c   Schoen, Michael ^c   Verpelli, Chiara ^d   Sala, Carlo ^d,e   Barsukov, Igor ^f   Dityatev, Alexander ^b,g   Kreienkamp, Hans Jürgen ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b ISTITUTO ITALIANO DI TECNOLOGIA   (Italy)

^c UNIVERSITY OF ULM   (Germany)

^d UNIVERSITY OF MILAN   (Italy)

^e DEPARTMENT OF NEUROSURGERY   (Italy)

^f UNIVERSITY OF LIVERPOOL   (United Kingdom)

^g GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ANKYRIN REPEATS; GENE MUTATIONS; INTRAMOLECULAR INTERACTIONS; LIGAND BINDING; SPECIFIC INTERACTION;

GENES; LIGANDS;

DISEASES;

ALPHA FODRIN; ANKYRIN; LEUCINE; SCAFFOLD PROTEIN; SHANK PROTEIN; SHARPIN PROTEIN; UNCLASSIFIED DRUG;

AMINO TERMINAL SEQUENCE; ANIMAL CELL; ANIMAL TISSUE; ARTICLE; AUTISM; BRAIN NERVE CELL; CELL CULTURE; CONTROLLED STUDY; DISEASE ASSOCIATION; EMBRYO; GAIN OF FUNCTION MUTATION; GENE; GENE DISRUPTION; GENE EXPRESSION; GENE FUNCTION; GENE SEQUENCE; GENE SILENCING; GENE STRUCTURE; GENE TARGETING; GENETIC ANALYSIS; GENETIC ASSOCIATION; HUMAN; HUMAN CELL; HUMAN TISSUE; LIGAND BINDING; LOSS OF FUNCTION MUTATION; MISSENSE MUTATION; MOLECULAR INTERACTION; MUTATIONAL ANALYSIS; NERVOUS SYSTEM ELECTROPHYSIOLOGY; NONHUMAN; NUCLEOTIDE SEQUENCE; POSTSYNAPTIC POTENTIAL; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN PROTEIN INTERACTION; RAT; REGULATORY MECHANISM; SHANK3 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; SYNAPTIC POTENTIAL;

ANKYRIN REPEATS; AUTISM; GENETIC DISEASES; MUTANT; PDZ DOMAIN; POSTSYNAPTIC DENSITY; SCAFFOLD PROTEINS; SYNAPSES;

ANIMALS; ANKYRIN REPEAT; AUTISTIC DISORDER; CARRIER PROTEINS; ELECTROPHYSIOLOGY; HEK293 CELLS; HIPPOCAMPUS; HUMANS; LEUCINE; LIGANDS; MICE; MICE, INBRED C57BL; MICROFILAMENT PROTEINS; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; NEURONS; PATCH-CLAMP TECHNIQUES; PROTEIN BINDING; PROTEIN STRUCTURE, TERTIARY; RATS; SYNAPTIC TRANSMISSION; TWO-HYBRID SYSTEM TECHNIQUES; UBIQUITINS;

EID: 84884189366     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M112.424747     Document Type: Article

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