@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP573742.RAerzpJvDULX73JY4ElyXR1C3NQqWu6HHr7sGIjWbU1UU130_head { this: np:hasAssertion dgn-np:NP573742.RAerzpJvDULX73JY4ElyXR1C3NQqWu6HHr7sGIjWbU1UU130_assertion; np:hasProvenance dgn-np:NP573742.RAerzpJvDULX73JY4ElyXR1C3NQqWu6HHr7sGIjWbU1UU130_provenance; np:hasPublicationInfo dgn-np:NP573742.RAerzpJvDULX73JY4ElyXR1C3NQqWu6HHr7sGIjWbU1UU130_publicationInfo; a np:Nanopublication . dgn-np:NP573742.RAerzpJvDULX73JY4ElyXR1C3NQqWu6HHr7sGIjWbU1UU130_assertion a np:Assertion . dgn-np:NP573742.RAerzpJvDULX73JY4ElyXR1C3NQqWu6HHr7sGIjWbU1UU130_provenance a np:Provenance . dgn-np:NP573742.RAerzpJvDULX73JY4ElyXR1C3NQqWu6HHr7sGIjWbU1UU130_publicationInfo a np:PublicationInfo . } dgn-np:NP573742.RAerzpJvDULX73JY4ElyXR1C3NQqWu6HHr7sGIjWbU1UU130_assertion { miriam-gene:1471 a ncit:C16612 . lld:C0242383 a ncit:C7057 . dgn-gda:DGNd9afa295791a3df0d4dd3edfd9d05b55 sio:SIO_000628 miriam-gene:1471, lld:C0242383; a sio:SIO_001121 . } dgn-np:NP573742.RAerzpJvDULX73JY4ElyXR1C3NQqWu6HHr7sGIjWbU1UU130_provenance { dgn-np:NP573742.RAerzpJvDULX73JY4ElyXR1C3NQqWu6HHr7sGIjWbU1UU130_assertion dcterms:description "[This localisation is thus intermediary between that of wild-type cystatin C (targeted to ER/Golgi compartment) and that of variant B precursor cystatin C. Furthermore, the level of secretion of Ala25Ser cystatin C by RPE cells is intermediary between wild type and variant B cystatin C. Ala25Ser precursor cystatin C thus represents a biochemical intermediate between the wild type and the AMD-associated cystatin C and as such, is a novel tool for the investigation of the mechanism of intracellular mis-localisation of variant B cystatin C. Our findings further support the hypothesis that substitution of the alanine residue in the penultimate position of precursor cystatin C signal sequence with a less hydrophobic amino acid residue, such as threonine (as in variant B cystatin C) or serine is sufficient to impair the intracellular trafficking and processing of the protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:16635487; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP573742.RAerzpJvDULX73JY4ElyXR1C3NQqWu6HHr7sGIjWbU1UU130_publicationInfo { this: dcterms:created "2014-10-02T12:37:46+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }