| http://purl.uniprot.org/citations/31285321 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/31285321 | http://www.w3.org/2000/01/rdf-schema#comment | "Giant ankyrin-B (ankB) is a neurospecific alternatively spliced variant of ANK2, a high-confidence autism spectrum disorder (ASD) gene. We report that a mouse model for human ASD mutation of giant ankB exhibits increased axonal branching in cultured neurons with ectopic CNS axon connectivity, as well as with a transient increase in excitatory synapses during postnatal development. We elucidate a mechanism normally limiting axon branching, whereby giant ankB localizes to periodic axonal plasma membrane domains through L1 cell-adhesion molecule protein, where it couples microtubules to the plasma membrane and prevents microtubule entry into nascent axon branches. Giant ankB mutation or deficiency results in a dominantly inherited impairment in selected communicative and social behaviors combined with superior executive function. Thus, gain of axon branching due to giant ankB-deficiency/mutation is a candidate cellular mechanism to explain aberrant structural connectivity and penetrant behavioral consequences in mice as well as humans bearing ASD-related ANK2 mutations."xsd:string |
| http://purl.uniprot.org/citations/31285321 | http://purl.org/dc/terms/identifier | "doi:10.1073/pnas.1904348116"xsd:string |
| http://purl.uniprot.org/citations/31285321 | http://purl.uniprot.org/core/author | "Kim N."xsd:string |
| http://purl.uniprot.org/citations/31285321 | http://purl.uniprot.org/core/author | "Wu D."xsd:string |
| http://purl.uniprot.org/citations/31285321 | http://purl.uniprot.org/core/author | "Yang R."xsd:string |
| http://purl.uniprot.org/citations/31285321 | http://purl.uniprot.org/core/author | "Wetsel W.C."xsd:string |
| http://purl.uniprot.org/citations/31285321 | http://purl.uniprot.org/core/author | "Bennett V."xsd:string |
| http://purl.uniprot.org/citations/31285321 | http://purl.uniprot.org/core/author | "Jiang Y.H."xsd:string |
| http://purl.uniprot.org/citations/31285321 | http://purl.uniprot.org/core/author | "Lorenzo D.N."xsd:string |
| http://purl.uniprot.org/citations/31285321 | http://purl.uniprot.org/core/author | "Badea A."xsd:string |
| http://purl.uniprot.org/citations/31285321 | http://purl.uniprot.org/core/author | "Yin H.H."xsd:string |
| http://purl.uniprot.org/citations/31285321 | http://purl.uniprot.org/core/author | "Walder-Christensen K.K."xsd:string |
| http://purl.uniprot.org/citations/31285321 | http://purl.uniprot.org/core/date | "2019"xsd:gYear |
| http://purl.uniprot.org/citations/31285321 | http://purl.uniprot.org/core/name | "Proc Natl Acad Sci U S A"xsd:string |
| http://purl.uniprot.org/citations/31285321 | http://purl.uniprot.org/core/pages | "15262-15271"xsd:string |
| http://purl.uniprot.org/citations/31285321 | http://purl.uniprot.org/core/title | "ANK2 autism mutation targeting giant ankyrin-B promotes axon branching and ectopic connectivity."xsd:string |
| http://purl.uniprot.org/citations/31285321 | http://purl.uniprot.org/core/volume | "116"xsd:string |
| http://purl.uniprot.org/citations/31285321 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/31285321 |
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| http://purl.uniprot.org/uniprot/#_A0A668KLB0-mappedCitation-31285321 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/31285321 |
| http://purl.uniprot.org/uniprot/#_A2AFG7-mappedCitation-31285321 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/31285321 |