http://rdf.disgenet.org/nanopublications.trig#NP351485.RATrvzBDt2rYRwKVVqMXg3_bVhJpnAa-Sw-Zteolwm2nk130_head http://rdf.disgenet.org/nanopublications.trig#NP351485.RATrvzBDt2rYRwKVVqMXg3_bVhJpnAa-Sw-Zteolwm2nk http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP351485.RATrvzBDt2rYRwKVVqMXg3_bVhJpnAa-Sw-Zteolwm2nk130_assertion http://rdf.disgenet.org/nanopublications.trig#NP351485.RATrvzBDt2rYRwKVVqMXg3_bVhJpnAa-Sw-Zteolwm2nk http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP351485.RATrvzBDt2rYRwKVVqMXg3_bVhJpnAa-Sw-Zteolwm2nk130_provenance http://rdf.disgenet.org/nanopublications.trig#NP351485.RATrvzBDt2rYRwKVVqMXg3_bVhJpnAa-Sw-Zteolwm2nk http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP351485.RATrvzBDt2rYRwKVVqMXg3_bVhJpnAa-Sw-Zteolwm2nk130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP351485.RATrvzBDt2rYRwKVVqMXg3_bVhJpnAa-Sw-Zteolwm2nk http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP351485.RATrvzBDt2rYRwKVVqMXg3_bVhJpnAa-Sw-Zteolwm2nk130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP351485.RATrvzBDt2rYRwKVVqMXg3_bVhJpnAa-Sw-Zteolwm2nk130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP351485.RATrvzBDt2rYRwKVVqMXg3_bVhJpnAa-Sw-Zteolwm2nk130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP351485.RATrvzBDt2rYRwKVVqMXg3_bVhJpnAa-Sw-Zteolwm2nk130_assertion http://identifiers.org/ncbigene/2177 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C1850380 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/gene-disease-association.ttl#DGN69f84c229057c6f8a389dda086f97e1d http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2177 http://rdf.disgenet.org/gene-disease-association.ttl#DGN69f84c229057c6f8a389dda086f97e1d http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1850380 http://rdf.disgenet.org/gene-disease-association.ttl#DGN69f84c229057c6f8a389dda086f97e1d http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP351485.RATrvzBDt2rYRwKVVqMXg3_bVhJpnAa-Sw-Zteolwm2nk130_provenance http://rdf.disgenet.org/nanopublications.trig#NP351485.RATrvzBDt2rYRwKVVqMXg3_bVhJpnAa-Sw-Zteolwm2nk130_assertion http://purl.org/dc/terms/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. http://rdf.disgenet.org/nanopublications.trig#NP351485.RATrvzBDt2rYRwKVVqMXg3_bVhJpnAa-Sw-Zteolwm2nk130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP351485.RATrvzBDt2rYRwKVVqMXg3_bVhJpnAa-Sw-Zteolwm2nk130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20513237 http://rdf.disgenet.org/nanopublications.trig#NP351485.RATrvzBDt2rYRwKVVqMXg3_bVhJpnAa-Sw-Zteolwm2nk130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP351485.RATrvzBDt2rYRwKVVqMXg3_bVhJpnAa-Sw-Zteolwm2nk130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP351485.RATrvzBDt2rYRwKVVqMXg3_bVhJpnAa-Sw-Zteolwm2nk130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP351485.RATrvzBDt2rYRwKVVqMXg3_bVhJpnAa-Sw-Zteolwm2nk http://purl.org/dc/terms/created 2014-10-02T12:35:26+02:00 http://rdf.disgenet.org/nanopublications.trig#NP351485.RATrvzBDt2rYRwKVVqMXg3_bVhJpnAa-Sw-Zteolwm2nk http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP351485.RATrvzBDt2rYRwKVVqMXg3_bVhJpnAa-Sw-Zteolwm2nk http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP351485.RATrvzBDt2rYRwKVVqMXg3_bVhJpnAa-Sw-Zteolwm2nk http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP351485.RATrvzBDt2rYRwKVVqMXg3_bVhJpnAa-Sw-Zteolwm2nk http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP351485.RATrvzBDt2rYRwKVVqMXg3_bVhJpnAa-Sw-Zteolwm2nk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP351485.RATrvzBDt2rYRwKVVqMXg3_bVhJpnAa-Sw-Zteolwm2nk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP351485.RATrvzBDt2rYRwKVVqMXg3_bVhJpnAa-Sw-Zteolwm2nk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP351485.RATrvzBDt2rYRwKVVqMXg3_bVhJpnAa-Sw-Zteolwm2nk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP351485.RATrvzBDt2rYRwKVVqMXg3_bVhJpnAa-Sw-Zteolwm2nk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP351485.RATrvzBDt2rYRwKVVqMXg3_bVhJpnAa-Sw-Zteolwm2nk http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP351485.RATrvzBDt2rYRwKVVqMXg3_bVhJpnAa-Sw-Zteolwm2nk http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0