@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:NP594048.RASGoDpxLvo-vwOUz5XtpO1H6itMxVRSw3g9aF_e5MsTk130_head { this: np:hasAssertion dgn-np:NP594048.RASGoDpxLvo-vwOUz5XtpO1H6itMxVRSw3g9aF_e5MsTk130_assertion; np:hasProvenance dgn-np:NP594048.RASGoDpxLvo-vwOUz5XtpO1H6itMxVRSw3g9aF_e5MsTk130_provenance; np:hasPublicationInfo dgn-np:NP594048.RASGoDpxLvo-vwOUz5XtpO1H6itMxVRSw3g9aF_e5MsTk130_publicationInfo; a np:Nanopublication . dgn-np:NP594048.RASGoDpxLvo-vwOUz5XtpO1H6itMxVRSw3g9aF_e5MsTk130_assertion a np:Assertion . dgn-np:NP594048.RASGoDpxLvo-vwOUz5XtpO1H6itMxVRSw3g9aF_e5MsTk130_provenance a np:Provenance . dgn-np:NP594048.RASGoDpxLvo-vwOUz5XtpO1H6itMxVRSw3g9aF_e5MsTk130_publicationInfo a np:PublicationInfo . } dgn-np:NP594048.RASGoDpxLvo-vwOUz5XtpO1H6itMxVRSw3g9aF_e5MsTk130_assertion { miriam-gene:5663 a ncit:C16612 . lld:C0205748 a ncit:C7057 . dgn-gda:DGNde7f8aaa4a13f5ccb8a9a7c3c441e249 sio:SIO_000628 miriam-gene:5663, lld:C0205748; a sio:SIO_001121 . } dgn-np:NP594048.RASGoDpxLvo-vwOUz5XtpO1H6itMxVRSw3g9aF_e5MsTk130_provenance { dgn-np:NP594048.RASGoDpxLvo-vwOUz5XtpO1H6itMxVRSw3g9aF_e5MsTk130_assertion dcterms:description "[This study resulted in several important conclusions: (i) decreased NAD- and FAD-linked oxygen uptake rates and uncoupling between electron transport and synthesis of ATP were observed in fibroblasts from premutation carriers; (ii) a lower expression of mitochondrial proteins preceded both in age and in CGG repeats the appearance of overt clinical involvement; (iii) the CGG repeat size required for altered mitochondrial protein expression was also smaller than that required to produce brain intranuclear inclusions from individuals with the premutation who died, suggesting that MD is an incipient pathological process occurring in individuals who do not display overt features of FXTAS; and (iv) on the basis of the CGG repeats, MD preceded the increase in oxidative/nitrative stress damage, indicating that the latter is a late event.]. 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:20513237; 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:NP594048.RASGoDpxLvo-vwOUz5XtpO1H6itMxVRSw3g9aF_e5MsTk130_publicationInfo { this: dcterms:created "2014-10-02T12:37:57+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" . }