Human Neuropsychiatric Disease Modeling using Conditional Deletion Reveals Synaptic Transmission Defects Caused by Heterozygous Mutations in NRXN1

Cell Stem Cell

Volumn 17, Issue 3, 2015, Pages 316-328

  Pak, ChangHui ^a   Danko, Tamas ^a   Zhang, Yingsha ^a   Aoto, Jason ^a   Anderson, Garret ^a   Maxeiner, Stephan ^a   Yi, Fei ^a   Wernig, Marius ^a   Südhof, Thomas C ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

autism; human neurons; iN cells; neurexin; schizophrenia; synapse; synaptic cell adhesion

Indexed keywords

CASK PROTEIN; CRE RECOMBINASE; NEUREXIN; NEUREXIN 1; PROTEIN; RECOMBINASE; SCAFFOLD PROTEIN; UNCLASSIFIED DRUG; AGENTS INTERACTING WITH TRANSMITTER, HORMONE OR DRUG RECEPTORS; CASK KINASES; GUANYLATE KINASE; NERVE CELL ADHESION MOLECULE; NERVE PROTEIN; NRXN1 PROTEIN, HUMAN;

ADENO ASSOCIATED VIRUS; ALLELE; ANIMAL CELL; ARTICLE; AUTISM; BRAIN CELL; CELL DENSITY; CELL DIFFERENTIATION; CONTROLLED STUDY; DISEASE MODEL; ELECTROPHYSIOLOGICAL PROCEDURES; EMBRYO; EMBRYONIC STEM CELL; EXCITATORY POSTSYNAPTIC POTENTIAL; EXON; GENE DELETION; GENE MUTATION; GENETIC RECOMBINATION; HETEROZYGOTE; HOMOLOGOUS RECOMBINATION; HUMAN; HUMAN CELL; IMMUNOBLOTTING; IMMUNOCYTOCHEMISTRY; LOXP SITE; MEMBRANE STEADY POTENTIAL; MENTAL DISEASE; MOUSE; NERVE CELL CULTURE; NERVE CELL DIFFERENTIATION; NEUROLOGIC DISEASE; NEUROPSYCHIATRIC DISEASE; NEUROTRANSMITTER RELEASE; NONHUMAN; PHENOTYPE; POLYADENYLATION; PRIORITY JOURNAL; PROTEIN BINDING; SCHIZOPHRENIA; SOUTHERN BLOTTING; STOP CODON; SYNAPSE; SYNAPSE VESICLE; SYNAPTIC TRANSMISSION; AMINO ACID SEQUENCE; BIOLOGICAL MODEL; CELL MEMBRANE; CHEMISTRY; CYTOLOGY; ENZYME STABILITY; GENE INACTIVATION; GENE TARGETING; GENETICS; HUMAN EMBRYONIC STEM CELL; METABOLISM; MINIATURE ENDPLATE POTENTIAL; MOLECULAR GENETICS; MUTATION; NERVE CELL;

AMINO ACID SEQUENCE; CELL ADHESION MOLECULES, NEURONAL; CELL DIFFERENTIATION; CELL MEMBRANE; ENZYME STABILITY; GENE KNOCKOUT TECHNIQUES; GENE TARGETING; GUANYLATE KINASES; HETEROZYGOTE; HUMAN EMBRYONIC STEM CELLS; HUMANS; MENTAL DISORDERS; MINIATURE POSTSYNAPTIC POTENTIALS; MODELS, BIOLOGICAL; MOLECULAR SEQUENCE DATA; MUTATION; NERVE TISSUE PROTEINS; NEURONS; NEUROTRANSMITTER AGENTS; PHENOTYPE; SYNAPSES; SYNAPTIC TRANSMISSION; SYNAPTIC VESICLES;

EID: 84940978728     PISSN: 19345909     EISSN: 18759777     Source Type: Journal    
DOI: 10.1016/j.stem.2015.07.017     Document Type: Article

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