| http://purl.uniprot.org/citations/31388001 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/31388001 | http://www.w3.org/2000/01/rdf-schema#comment | "Neurodevelopmental disorders, including autism spectrum disorder, have complex polygenic etiologies. Single-gene mutations in patients can help define genetic factors and molecular mechanisms underlying neurodevelopmental disorders. Here we describe individuals with monogenic heterozygous microdeletions in ANKS1B, a predicted risk gene for autism and neuropsychiatric diseases. Affected individuals present with a spectrum of neurodevelopmental phenotypes, including autism, attention-deficit hyperactivity disorder, and speech and motor deficits. Neurons generated from patient-derived induced pluripotent stem cells demonstrate loss of the ANKS1B-encoded protein AIDA-1, a brain-specific protein highly enriched at neuronal synapses. A transgenic mouse model of Anks1b haploinsufficiency recapitulates a range of patient phenotypes, including social deficits, hyperactivity, and sensorimotor dysfunction. Identification of the AIDA-1 interactome using quantitative proteomics reveals protein networks involved in synaptic function and the etiology of neurodevelopmental disorders. Our findings formalize a link between the synaptic protein AIDA-1 and a rare, previously undefined genetic disease we term ANKS1B haploinsufficiency syndrome."xsd:string |
| http://purl.uniprot.org/citations/31388001 | http://purl.org/dc/terms/identifier | "doi:10.1038/s41467-019-11437-w"xsd:string |
| http://purl.uniprot.org/citations/31388001 | http://purl.uniprot.org/core/author | "Scherer S.W."xsd:string |
| http://purl.uniprot.org/citations/31388001 | http://purl.uniprot.org/core/author | "Erdjument-Bromage H."xsd:string |
| http://purl.uniprot.org/citations/31388001 | http://purl.uniprot.org/core/author | "Neubert T.A."xsd:string |
| http://purl.uniprot.org/citations/31388001 | http://purl.uniprot.org/core/author | "Cho C.H."xsd:string |
| http://purl.uniprot.org/citations/31388001 | http://purl.uniprot.org/core/author | "Jordan B.A."xsd:string |
| http://purl.uniprot.org/citations/31388001 | http://purl.uniprot.org/core/author | "Banne E."xsd:string |
| http://purl.uniprot.org/citations/31388001 | http://purl.uniprot.org/core/author | "Iaboni A."xsd:string |
| http://purl.uniprot.org/citations/31388001 | http://purl.uniprot.org/core/author | "Carbonell A.U."xsd:string |
| http://purl.uniprot.org/citations/31388001 | http://purl.uniprot.org/core/author | "Cvejic S."xsd:string |
| http://purl.uniprot.org/citations/31388001 | http://purl.uniprot.org/core/author | "Anagnostou E."xsd:string |
| http://purl.uniprot.org/citations/31388001 | http://purl.uniprot.org/core/author | "Tindi J.O."xsd:string |
| http://purl.uniprot.org/citations/31388001 | http://purl.uniprot.org/core/author | "Molholm S."xsd:string |
| http://purl.uniprot.org/citations/31388001 | http://purl.uniprot.org/core/author | "Bates J.C."xsd:string |
| http://purl.uniprot.org/citations/31388001 | http://purl.uniprot.org/core/author | "Counts P.A."xsd:string |
| http://purl.uniprot.org/citations/31388001 | http://purl.uniprot.org/core/author | "Kvint I."xsd:string |
| http://purl.uniprot.org/citations/31388001 | http://purl.uniprot.org/core/author | "Rosensaft J."xsd:string |
| http://purl.uniprot.org/citations/31388001 | http://purl.uniprot.org/core/date | "2019"xsd:gYear |
| http://purl.uniprot.org/citations/31388001 | http://purl.uniprot.org/core/name | "Nat Commun"xsd:string |
| http://purl.uniprot.org/citations/31388001 | http://purl.uniprot.org/core/pages | "3529"xsd:string |
| http://purl.uniprot.org/citations/31388001 | http://purl.uniprot.org/core/title | "Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome."xsd:string |
| http://purl.uniprot.org/citations/31388001 | http://purl.uniprot.org/core/volume | "10"xsd:string |
| http://purl.uniprot.org/citations/31388001 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/31388001 |