Autism-associated SHANK3 haploinsufficiency causes Ih channelopathy in human neurons

Science

Volumn 352, Issue 6286, 2016, Pages

  Yi, Fei ^a   Danko, Tamas ^a   Botelho, Salome Calado ^a   Patzke, Christopher ^a   Pak, Changhui ^a   Wernig, Marius ^a   Südhof, Thomas C ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HYPERPOLARIZATION ACTIVATED CYCLIC NUCLEOTIDE GATED CHANNEL; SCAFFOLD PROTEIN; SHANK3 PROTEIN; UNCLASSIFIED DRUG; NERVE PROTEIN; SHANK3 PROTEIN, HUMAN; SHANK3 PROTEIN, MOUSE;

BRAIN; HETEROZYGOSITY; MUTATION; NERVOUS SYSTEM DISORDER; NEUROLOGY; PHENOTYPE; PROTEIN;

ANIMAL CELL; ARTICLE; AUTISM; CONTROLLED STUDY; DISEASE PREDISPOSITION; DISEASE SEVERITY; EMBRYO; GENE MUTATION; HAPLOINSUFFICIENCY; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; HUMAN EMBRYONIC STEM CELL; HYPERPOLARIZATION; LOSS OF FUNCTION MUTATION; MORPHOLOGY; MOUSE; NEURONAL CHANNELOPATHY; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN INTERACTION; SYNAPTIC TRANSMISSION; ACTION POTENTIAL; ANIMAL; CELL CULTURE; CHANNELOPATHY; CHROMOSOME 22; CHROMOSOME DELETION; CHROMOSOME DISORDER; EMBRYONIC STEM CELL; GENE DELETION; GENETIC ENGINEERING; GENETIC PREDISPOSITION; GENETICS; KNOCKOUT MOUSE; METABOLISM; MUTAGENESIS; NERVE CELL; PHYSIOLOGY; SYNAPSE;

ACTION POTENTIALS; ANIMALS; AUTISM SPECTRUM DISORDER; CELLS, CULTURED; CHANNELOPATHIES; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 22; EMBRYONIC STEM CELLS; GENE DELETION; GENETIC ENGINEERING; GENETIC PREDISPOSITION TO DISEASE; HAPLOINSUFFICIENCY; HUMANS; HYPERPOLARIZATION-ACTIVATED CYCLIC NUCLEOTIDE-GATED CHANNELS; MICE; MICE, KNOCKOUT; MUTAGENESIS; NERVE TISSUE PROTEINS; NEURONS; SYNAPSES; SYNAPTIC TRANSMISSION;

EID: 84960873913     PISSN: 00368075     EISSN: 10959203     Source Type: Journal    
DOI: 10.1126/science.aaf2669     Document Type: Article

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