http://rdf.disgenet.org/resource/nanopub/NP815667.RAUsAXFzjJ3RTHqrL7ZQ_b85rxZVvwEsCYRG_YfE15uFU130_head http://rdf.disgenet.org/resource/nanopub/NP815667.RAUsAXFzjJ3RTHqrL7ZQ_b85rxZVvwEsCYRG_YfE15uFU http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP815667.RAUsAXFzjJ3RTHqrL7ZQ_b85rxZVvwEsCYRG_YfE15uFU130_assertion http://rdf.disgenet.org/resource/nanopub/NP815667.RAUsAXFzjJ3RTHqrL7ZQ_b85rxZVvwEsCYRG_YfE15uFU http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP815667.RAUsAXFzjJ3RTHqrL7ZQ_b85rxZVvwEsCYRG_YfE15uFU130_provenance http://rdf.disgenet.org/resource/nanopub/NP815667.RAUsAXFzjJ3RTHqrL7ZQ_b85rxZVvwEsCYRG_YfE15uFU http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP815667.RAUsAXFzjJ3RTHqrL7ZQ_b85rxZVvwEsCYRG_YfE15uFU130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP815667.RAUsAXFzjJ3RTHqrL7ZQ_b85rxZVvwEsCYRG_YfE15uFU http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP815667.RAUsAXFzjJ3RTHqrL7ZQ_b85rxZVvwEsCYRG_YfE15uFU130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP815667.RAUsAXFzjJ3RTHqrL7ZQ_b85rxZVvwEsCYRG_YfE15uFU130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP815667.RAUsAXFzjJ3RTHqrL7ZQ_b85rxZVvwEsCYRG_YfE15uFU130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP815667.RAUsAXFzjJ3RTHqrL7ZQ_b85rxZVvwEsCYRG_YfE15uFU130_assertion http://identifiers.org/ncbigene/5663 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/C1839780 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/DGN3556fa5887af3e222055db6fc160c3f0 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5663 http://rdf.disgenet.org/resource/gda/DGN3556fa5887af3e222055db6fc160c3f0 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1839780 http://rdf.disgenet.org/resource/gda/DGN3556fa5887af3e222055db6fc160c3f0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP815667.RAUsAXFzjJ3RTHqrL7ZQ_b85rxZVvwEsCYRG_YfE15uFU130_provenance http://rdf.disgenet.org/resource/nanopub/NP815667.RAUsAXFzjJ3RTHqrL7ZQ_b85rxZVvwEsCYRG_YfE15uFU130_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/NP815667.RAUsAXFzjJ3RTHqrL7ZQ_b85rxZVvwEsCYRG_YfE15uFU130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP815667.RAUsAXFzjJ3RTHqrL7ZQ_b85rxZVvwEsCYRG_YfE15uFU130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20513237 http://rdf.disgenet.org/resource/nanopub/NP815667.RAUsAXFzjJ3RTHqrL7ZQ_b85rxZVvwEsCYRG_YfE15uFU130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP815667.RAUsAXFzjJ3RTHqrL7ZQ_b85rxZVvwEsCYRG_YfE15uFU130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP815667.RAUsAXFzjJ3RTHqrL7ZQ_b85rxZVvwEsCYRG_YfE15uFU130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP815667.RAUsAXFzjJ3RTHqrL7ZQ_b85rxZVvwEsCYRG_YfE15uFU http://purl.org/dc/terms/created 2016-05-13T12:47:54+02:00 http://rdf.disgenet.org/resource/nanopub/NP815667.RAUsAXFzjJ3RTHqrL7ZQ_b85rxZVvwEsCYRG_YfE15uFU http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP815667.RAUsAXFzjJ3RTHqrL7ZQ_b85rxZVvwEsCYRG_YfE15uFU http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP815667.RAUsAXFzjJ3RTHqrL7ZQ_b85rxZVvwEsCYRG_YfE15uFU http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP815667.RAUsAXFzjJ3RTHqrL7ZQ_b85rxZVvwEsCYRG_YfE15uFU http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP815667.RAUsAXFzjJ3RTHqrL7ZQ_b85rxZVvwEsCYRG_YfE15uFU http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP815667.RAUsAXFzjJ3RTHqrL7ZQ_b85rxZVvwEsCYRG_YfE15uFU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP815667.RAUsAXFzjJ3RTHqrL7ZQ_b85rxZVvwEsCYRG_YfE15uFU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP815667.RAUsAXFzjJ3RTHqrL7ZQ_b85rxZVvwEsCYRG_YfE15uFU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP815667.RAUsAXFzjJ3RTHqrL7ZQ_b85rxZVvwEsCYRG_YfE15uFU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP815667.RAUsAXFzjJ3RTHqrL7ZQ_b85rxZVvwEsCYRG_YfE15uFU http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP815667.RAUsAXFzjJ3RTHqrL7ZQ_b85rxZVvwEsCYRG_YfE15uFU http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0