SYN2 is an autism predisposing gene: Loss-offunction mutations alter synaptic vesicle cycling and axon outgrowth

Human Molecular Genetics

Volumn 23, Issue 1, 2014, Pages 90-103

  Corradi, Anna ^a   Fadda, Manuela ^a,b   Piton, Amélie ^c   Patry, Lysanne ^c   Marte, Antonella ^a   Rossi, Pia ^a   Cadieux Dion, Maxime ^c   Gauthier, Julie ^c   Lapointe, Line ^c   Mottron, Laurent ^c   Valtorta, Flavia ^d   Rouleau, Guy A ^c   Fassio, Anna ^a,b   Benfenati, Fabio ^a,b   Cossette, Patrick ^c  

^a UNIVERSITY OF GENOA   (Italy)

^b ISTITUTO ITALIANO DI TECNOLOGIA   (Italy)

^c NOTRE DAME HOSPITAL   (Canada)

^d VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN DERIVATIVE; SYN2 PROTEIN; SYNAPSIN; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTISM; COMPUTER MODEL; CONTROLLED STUDY; FEMALE; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN CELL; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOUSE; MUTANT; NERVE CELL; NERVE FIBER; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; SYNAPSE VESICLE; WILD TYPE;

ANIMALS; AXONS; CHILD DEVELOPMENT DISORDERS, PERVASIVE; CODON, NONSENSE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HELA CELLS; HIPPOCAMPUS; HUMANS; MALE; MICE; MICE, INBRED C57BL; MICE, KNOCKOUT; MUTATION, MISSENSE; NEURONS; SYNAPSINS; SYNAPTIC VESICLES;

EID: 84890350967     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt401     Document Type: Article

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