Disease: Autism Spectrum Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.010 AlteredExpression disease BEFREE It is not known which Shank binding partners are responsible for these defects.Here we show that the <i>C. elegans</i> SHN-1/Shank binds L-type calcium channels and that increased and decreased <i>shn-1</i> gene dosage alter L-channel current and activity-induced expression of a CRH-1/CREB transcriptional target (<i>gem-4</i> Copine), which parallels the effects of human Shank copy number variations (CNVs) on Autism spectrum disorders and schizophrenia. 28477407 2017