| http://purl.uniprot.org/citations/9153393 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9153393 | http://www.w3.org/2000/01/rdf-schema#comment | "Approximately 10% of cases of Alzheimer's disease are familial and associated with autosomal dominant inheritance of mutations in genes encoding the amyloid precursor protein, presenilin 1 (PS1) and presenilin 2 (PS2). Mutations in PS1 are linked to about 25% of cases of early-onset familial Alzheimer's disease. PS1, which is endoproteolytically processed in vivo, is a multipass transmembrane protein and is a functional homologue of SEL-12, a Caenorhabditis elegans protein that facilitates signalling mediated by the Notch/LIN-12 family of receptors. To examine potential roles for PS1 in facilitating Notch-mediated signalling during mammalian embryogenesis, we generated mice with targeted disruptions of PS1 alleles (PS1-/- mice). PS1-/-embryos exhibited abnormal patterning of the axial skeleton and spinal ganglia, phenotypes traced to defects in somite segmentation and differentiation. Moreover, expression of mRNA encoding Notch1 and Dll1 (delta-like gene 1), a vertebrate Notch ligand, is markedly reduced in the presomitic mesoderm of PS1-/-embryos compared to controls. Hence, PS1 is required for the spatiotemporal expression of Notch1 and Dll1, which are essential for somite segmentation and maintenance of somite borders."xsd:string |
| http://purl.uniprot.org/citations/9153393 | http://purl.org/dc/terms/identifier | "doi:10.1038/387288a0"xsd:string |
| http://purl.uniprot.org/citations/9153393 | http://purl.uniprot.org/core/author | "Chen H."xsd:string |
| http://purl.uniprot.org/citations/9153393 | http://purl.uniprot.org/core/author | "Chen H.Y."xsd:string |
| http://purl.uniprot.org/citations/9153393 | http://purl.uniprot.org/core/author | "Zheng H."xsd:string |
| http://purl.uniprot.org/citations/9153393 | http://purl.uniprot.org/core/author | "Price D.L."xsd:string |
| http://purl.uniprot.org/citations/9153393 | http://purl.uniprot.org/core/author | "Sisodia S.S."xsd:string |
| http://purl.uniprot.org/citations/9153393 | http://purl.uniprot.org/core/author | "Wong P.C."xsd:string |
| http://purl.uniprot.org/citations/9153393 | http://purl.uniprot.org/core/author | "Sirinathsinghji D.J."xsd:string |
| http://purl.uniprot.org/citations/9153393 | http://purl.uniprot.org/core/author | "Van der Ploeg L.H."xsd:string |
| http://purl.uniprot.org/citations/9153393 | http://purl.uniprot.org/core/author | "Trumbauer M.E."xsd:string |
| http://purl.uniprot.org/citations/9153393 | http://purl.uniprot.org/core/author | "Becher M.W."xsd:string |
| http://purl.uniprot.org/citations/9153393 | http://purl.uniprot.org/core/date | "1997"xsd:gYear |
| http://purl.uniprot.org/citations/9153393 | http://purl.uniprot.org/core/name | "Nature"xsd:string |
| http://purl.uniprot.org/citations/9153393 | http://purl.uniprot.org/core/pages | "288-292"xsd:string |
| http://purl.uniprot.org/citations/9153393 | http://purl.uniprot.org/core/title | "Presenilin 1 is required for Notch1 and DII1 expression in the paraxial mesoderm."xsd:string |
| http://purl.uniprot.org/citations/9153393 | http://purl.uniprot.org/core/volume | "387"xsd:string |
| http://purl.uniprot.org/citations/9153393 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/9153393 |
| http://purl.uniprot.org/citations/9153393 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/9153393 |
| http://purl.uniprot.org/uniprot/P49769#attribution-9FC3015CC68A8DACB9495C98C0E12E55 | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/9153393 |
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| http://purl.uniprot.org/uniprot/#_D3Z0X1-mappedCitation-9153393 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/9153393 |
| http://purl.uniprot.org/uniprot/#_A0A338P7A6-mappedCitation-9153393 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/9153393 |
| http://purl.uniprot.org/uniprot/#_A2ALK0-mappedCitation-9153393 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/9153393 |