| http://purl.uniprot.org/citations/16320251 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16320251 | http://www.w3.org/2000/01/rdf-schema#comment | "Periventricular heterotopia (PH) is a malformation of cortical development characterized by nodules of neurons, ectopically located along the lateral ventricles of the brain. Mutations in the vesicle transport ADP-ribosylation factor guanine exchange factor 2 gene (ARFGEF2) or the actin-binding Filamin A (FLNA) gene cause PH. Previous studies have shown that FLNA expression is developmentally regulated, with strongest expression observed along the ventricular zone (VZ) and to a lesser degree in postmitotic neurons in the cortex. Here we characterize the expression patterns for ARFGEF2 within the central nervous systems of human and mouse in order to better understand their potential roles in causing PH. ARFGEF2 mRNA was widely expressed in all cortical layers, especially in the neural precursors of the ventricular and subventricular zones (SVZ) during development, with persistent but diminished expression in adulthood. ARFGEF2 encodes for the protein brefeldin-inhibited guanine exchange factor 2 (BIG2). BIG2 protein immunoreactivity was most strongly localized to the neural progenitors along the neuroependymal lining of the VZ during development, with decreased expression in adulthood. Furthermore, overlapping BIG2 and FLNA expression was greatest in these same neuroependymal cells of human embryonic brain and was co-expressed in progenitors by Western blot. Finally, transfection of a dominant-negative construct of ARFGEF2 in SHSY5Y neuroblastoma cells partially blocked FLNA transport from the Golgi apparatus to the cell membrane. These results suggest that mutations in ARFGEF2 may impair targeted transport of FLNA to the cell surface within neural progenitors along the neuroependyma and that disruption of these cells could contribute to PH formation."xsd:string |
| http://purl.uniprot.org/citations/16320251 | http://purl.org/dc/terms/identifier | "doi:10.1002/cne.20806"xsd:string |
| http://purl.uniprot.org/citations/16320251 | http://purl.uniprot.org/core/author | "Lu J."xsd:string |
| http://purl.uniprot.org/citations/16320251 | http://purl.uniprot.org/core/author | "Walsh C."xsd:string |
| http://purl.uniprot.org/citations/16320251 | http://purl.uniprot.org/core/author | "Tiao G."xsd:string |
| http://purl.uniprot.org/citations/16320251 | http://purl.uniprot.org/core/author | "Hecht J."xsd:string |
| http://purl.uniprot.org/citations/16320251 | http://purl.uniprot.org/core/author | "Folkerth R."xsd:string |
| http://purl.uniprot.org/citations/16320251 | http://purl.uniprot.org/core/author | "Sheen V."xsd:string |
| http://purl.uniprot.org/citations/16320251 | http://purl.uniprot.org/core/date | "2006"xsd:gYear |
| http://purl.uniprot.org/citations/16320251 | http://purl.uniprot.org/core/name | "J Comp Neurol"xsd:string |
| http://purl.uniprot.org/citations/16320251 | http://purl.uniprot.org/core/pages | "476-484"xsd:string |
| http://purl.uniprot.org/citations/16320251 | http://purl.uniprot.org/core/title | "Overlapping expression of ARFGEF2 and Filamin A in the neuroependymal lining of the lateral ventricles: insights into the cause of periventricular heterotopia."xsd:string |
| http://purl.uniprot.org/citations/16320251 | http://purl.uniprot.org/core/volume | "494"xsd:string |
| http://purl.uniprot.org/citations/16320251 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/16320251 |
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| http://purl.uniprot.org/uniprot/#_A2A5R2-mappedCitation-16320251 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/16320251 |
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| http://purl.uniprot.org/uniprot/#_B9EKP5-mappedCitation-16320251 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/16320251 |
| http://purl.uniprot.org/uniprot/#_F6YCJ0-mappedCitation-16320251 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/16320251 |
| http://purl.uniprot.org/uniprot/#_F6Z2C0-mappedCitation-16320251 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/16320251 |
| http://purl.uniprot.org/uniprot/#_B7FAU9-mappedCitation-16320251 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/16320251 |
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