Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology

Human Molecular Genetics

Volumn 21, Issue 2, 2012, Pages 344-357

  Berkel, Simone ^a   Tang, Wannan ^b   Trevião, Mario ^b   Vogt, Miriam ^a   Obenhaus, Horst Andreas ^b   Gass, Peter ^a   Scherer, Stephen Wayne ^c,d   Sprengel, Rolf ^b   Schratt, Gerhard ^a,e   Rappold, Gudrun Anna ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b MAX PLANCK INSTITUTE FOR MEDICAL RESEARCH   (Germany)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d UNIVERSITY OF TORONTO   (Canada)

^e PHILIPPS UNIVERSITY MARBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN SHANK2; SCAFFOLD PROTEIN; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; AUTISM; BEHAVIOR; CONTROLLED STUDY; DENDRITIC SPINE; DOSE RESPONSE; EXCITATORY POSTSYNAPTIC POTENTIAL; GENE DUPLICATION; GENE SILENCING; GENETIC ASSOCIATION; GENETIC VARIABILITY; HIPPOCAMPAL CA1 REGION; MISSENSE MUTATION; MOUSE; NERVOUS SYSTEM DEVELOPMENT; NONHUMAN; POSTSYNAPTIC DENSITY; PRIORITY JOURNAL; PYRAMIDAL NERVE CELL; SYNAPTIC TRANSMISSION;

ANIMALS; CHILD; CHILD DEVELOPMENT DISORDERS, PERVASIVE; GENE KNOCKDOWN TECHNIQUES; HIPPOCAMPUS; HUMANS; MICE; MORPHOGENESIS; MUTATION; NERVE TISSUE PROTEINS; NEURONS;

MUS;

EID: 84855413477     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr470     Document Type: Article

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