| http://purl.uniprot.org/citations/9489700 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9489700 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9489700 | http://www.w3.org/2000/01/rdf-schema#comment | "X-linked lissencephaly and "double cortex" are allelic human disorders mapping to Xq22.3-Xq23 associated with arrest of migrating cerebral cortical neurons. We identified a novel 10 kb brain-specific cDNA interrupted by a balanced translocation in an XLIS patient that encodes a novel 40 kDa predicted protein named Doublecortin. Four double cortex/X-linked lissencephaly families and three sporadic double cortex patients show independent doublecortin mutations, at least one of them a de novo mutation. Doublecortin contains a consensus Abl phosphorylation site and other sites of potential phosphorylation. Although Doublecortin does not contain a kinase domain, it is homologous to the amino terminus of a predicted kinase protein, indicating a likely role in signal transduction. Doublecortin, along with the newly characterized mDab1, may define an Abl-dependent pathway regulating neuronal migration."xsd:string |
| http://purl.uniprot.org/citations/9489700 | http://purl.org/dc/terms/identifier | "doi:10.1016/s0092-8674(00)80899-5"xsd:string |
| http://purl.uniprot.org/citations/9489700 | http://purl.org/dc/terms/identifier | "doi:10.1016/s0092-8674(00)80899-5"xsd:string |
| http://purl.uniprot.org/citations/9489700 | http://purl.uniprot.org/core/author | "Fox J.W."xsd:string |
| http://purl.uniprot.org/citations/9489700 | http://purl.uniprot.org/core/author | "Fox J.W."xsd:string |
| http://purl.uniprot.org/citations/9489700 | http://purl.uniprot.org/core/author | "Gleeson J.G."xsd:string |
| http://purl.uniprot.org/citations/9489700 | http://purl.uniprot.org/core/author | "Gleeson J.G."xsd:string |
| http://purl.uniprot.org/citations/9489700 | http://purl.uniprot.org/core/author | "Lamperti E.D."xsd:string |
| http://purl.uniprot.org/citations/9489700 | http://purl.uniprot.org/core/author | "Lamperti E.D."xsd:string |
| http://purl.uniprot.org/citations/9489700 | http://purl.uniprot.org/core/author | "Dobyns W.B."xsd:string |
| http://purl.uniprot.org/citations/9489700 | http://purl.uniprot.org/core/author | "Dobyns W.B."xsd:string |
| http://purl.uniprot.org/citations/9489700 | http://purl.uniprot.org/core/author | "Ross M.E."xsd:string |
| http://purl.uniprot.org/citations/9489700 | http://purl.uniprot.org/core/author | "Ross M.E."xsd:string |
| http://purl.uniprot.org/citations/9489700 | http://purl.uniprot.org/core/author | "Allen K.M."xsd:string |
| http://purl.uniprot.org/citations/9489700 | http://purl.uniprot.org/core/author | "Allen K.M."xsd:string |
| http://purl.uniprot.org/citations/9489700 | http://purl.uniprot.org/core/author | "Walsh C.A."xsd:string |
| http://purl.uniprot.org/citations/9489700 | http://purl.uniprot.org/core/author | "Walsh C.A."xsd:string |
| http://purl.uniprot.org/citations/9489700 | http://purl.uniprot.org/core/author | "Berkovic S."xsd:string |
| http://purl.uniprot.org/citations/9489700 | http://purl.uniprot.org/core/author | "Berkovic S."xsd:string |
| http://purl.uniprot.org/citations/9489700 | http://purl.uniprot.org/core/author | "Cooper E.C."xsd:string |
| http://purl.uniprot.org/citations/9489700 | http://purl.uniprot.org/core/author | "Cooper E.C."xsd:string |
| http://purl.uniprot.org/citations/9489700 | http://purl.uniprot.org/core/author | "Minnerath S.R."xsd:string |
| http://purl.uniprot.org/citations/9489700 | http://purl.uniprot.org/core/author | "Minnerath S.R."xsd:string |