http://purl.uniprot.org/citations/15385965 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/15385965 | http://www.w3.org/2000/01/rdf-schema#comment | "The Alzheimer's disease beta-amyloid precursor protein (APP) is a member of a larger gene family that includes the amyloid precursor-like proteins, termed APLP1 and APLP2. We previously documented that APLP2-/-APLP1-/- and APLP2-/-APP-/- mice die postnatally, while APLP1-/-APP-/-mice and single mutants were viable. We now report that mice lacking all three APP/APLP family members survive through embryonic development, and die shortly after birth. In contrast to double-mutant animals with perinatal lethality, 81% of triple mutants showed cranial abnormalities. In 68% of triple mutants, we observed cortical dysplasias characterized by focal ectopic neuroblasts that had migrated through the basal lamina and pial membrane, a phenotype that resembles human type II lissencephaly. Moreover, at E18.5 triple mutants showed a partial loss of cortical Cajal Retzius (CR) cells, suggesting that APP/APLPs play a crucial role in the survival of CR cells and neuronal adhesion. Collectively, our data reveal an essential role for APP family members in normal brain development and early postnatal survival."xsd:string |
http://purl.uniprot.org/citations/15385965 | http://purl.org/dc/terms/identifier | "doi:10.1038/sj.emboj.7600390"xsd:string |
http://purl.uniprot.org/citations/15385965 | http://purl.uniprot.org/core/author | "Anliker B."xsd:string |
http://purl.uniprot.org/citations/15385965 | http://purl.uniprot.org/core/author | "Heber S."xsd:string |
http://purl.uniprot.org/citations/15385965 | http://purl.uniprot.org/core/author | "Fuhrmann M."xsd:string |
http://purl.uniprot.org/citations/15385965 | http://purl.uniprot.org/core/author | "Ring S."xsd:string |
http://purl.uniprot.org/citations/15385965 | http://purl.uniprot.org/core/author | "Muller U."xsd:string |
http://purl.uniprot.org/citations/15385965 | http://purl.uniprot.org/core/author | "Kretzschmar H."xsd:string |
http://purl.uniprot.org/citations/15385965 | http://purl.uniprot.org/core/author | "Sisodia S."xsd:string |
http://purl.uniprot.org/citations/15385965 | http://purl.uniprot.org/core/author | "Herms J."xsd:string |
http://purl.uniprot.org/citations/15385965 | http://purl.uniprot.org/core/date | "2004"xsd:gYear |
http://purl.uniprot.org/citations/15385965 | http://purl.uniprot.org/core/name | "EMBO J"xsd:string |
http://purl.uniprot.org/citations/15385965 | http://purl.uniprot.org/core/pages | "4106-4115"xsd:string |
http://purl.uniprot.org/citations/15385965 | http://purl.uniprot.org/core/title | "Cortical dysplasia resembling human type 2 lissencephaly in mice lacking all three APP family members."xsd:string |
http://purl.uniprot.org/citations/15385965 | http://purl.uniprot.org/core/volume | "23"xsd:string |
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