http://rdf.disgenet.org/resource/nanopub/NP393695.RAs9P-lDUhdYWzVz7lDVqVw9A1gedsD9GtR75c_JWLolg130_head http://rdf.disgenet.org/resource/nanopub/NP393695.RAs9P-lDUhdYWzVz7lDVqVw9A1gedsD9GtR75c_JWLolg http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP393695.RAs9P-lDUhdYWzVz7lDVqVw9A1gedsD9GtR75c_JWLolg130_assertion http://rdf.disgenet.org/resource/nanopub/NP393695.RAs9P-lDUhdYWzVz7lDVqVw9A1gedsD9GtR75c_JWLolg http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP393695.RAs9P-lDUhdYWzVz7lDVqVw9A1gedsD9GtR75c_JWLolg130_provenance http://rdf.disgenet.org/resource/nanopub/NP393695.RAs9P-lDUhdYWzVz7lDVqVw9A1gedsD9GtR75c_JWLolg http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP393695.RAs9P-lDUhdYWzVz7lDVqVw9A1gedsD9GtR75c_JWLolg130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP393695.RAs9P-lDUhdYWzVz7lDVqVw9A1gedsD9GtR75c_JWLolg http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP393695.RAs9P-lDUhdYWzVz7lDVqVw9A1gedsD9GtR75c_JWLolg130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP393695.RAs9P-lDUhdYWzVz7lDVqVw9A1gedsD9GtR75c_JWLolg130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP393695.RAs9P-lDUhdYWzVz7lDVqVw9A1gedsD9GtR75c_JWLolg130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP393695.RAs9P-lDUhdYWzVz7lDVqVw9A1gedsD9GtR75c_JWLolg130_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/C3825627 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/resource/gda/DGN2a6e2f28622538bdeb6ee0001ce9fe46 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2177 http://rdf.disgenet.org/resource/gda/DGN2a6e2f28622538bdeb6ee0001ce9fe46 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C3825627 http://rdf.disgenet.org/resource/gda/DGN2a6e2f28622538bdeb6ee0001ce9fe46 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001123 http://rdf.disgenet.org/resource/nanopub/NP393695.RAs9P-lDUhdYWzVz7lDVqVw9A1gedsD9GtR75c_JWLolg130_provenance http://rdf.disgenet.org/resource/nanopub/NP393695.RAs9P-lDUhdYWzVz7lDVqVw9A1gedsD9GtR75c_JWLolg130_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/resource/nanopub/NP393695.RAs9P-lDUhdYWzVz7lDVqVw9A1gedsD9GtR75c_JWLolg130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP393695.RAs9P-lDUhdYWzVz7lDVqVw9A1gedsD9GtR75c_JWLolg130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20513237 http://rdf.disgenet.org/resource/nanopub/NP393695.RAs9P-lDUhdYWzVz7lDVqVw9A1gedsD9GtR75c_JWLolg130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP393695.RAs9P-lDUhdYWzVz7lDVqVw9A1gedsD9GtR75c_JWLolg130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v3.0.0/void/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP393695.RAs9P-lDUhdYWzVz7lDVqVw9A1gedsD9GtR75c_JWLolg130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP393695.RAs9P-lDUhdYWzVz7lDVqVw9A1gedsD9GtR75c_JWLolg http://purl.org/dc/terms/created 2015-08-25T14:41:28+02:00 http://rdf.disgenet.org/resource/nanopub/NP393695.RAs9P-lDUhdYWzVz7lDVqVw9A1gedsD9GtR75c_JWLolg http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP393695.RAs9P-lDUhdYWzVz7lDVqVw9A1gedsD9GtR75c_JWLolg http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP393695.RAs9P-lDUhdYWzVz7lDVqVw9A1gedsD9GtR75c_JWLolg http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP393695.RAs9P-lDUhdYWzVz7lDVqVw9A1gedsD9GtR75c_JWLolg http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP393695.RAs9P-lDUhdYWzVz7lDVqVw9A1gedsD9GtR75c_JWLolg http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP393695.RAs9P-lDUhdYWzVz7lDVqVw9A1gedsD9GtR75c_JWLolg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP393695.RAs9P-lDUhdYWzVz7lDVqVw9A1gedsD9GtR75c_JWLolg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP393695.RAs9P-lDUhdYWzVz7lDVqVw9A1gedsD9GtR75c_JWLolg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP393695.RAs9P-lDUhdYWzVz7lDVqVw9A1gedsD9GtR75c_JWLolg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP393695.RAs9P-lDUhdYWzVz7lDVqVw9A1gedsD9GtR75c_JWLolg http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP393695.RAs9P-lDUhdYWzVz7lDVqVw9A1gedsD9GtR75c_JWLolg http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0