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PubMed:17940288 JSONTXT

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GlyCosmos6-Glycan-Motif-Image

Id Subject Object Predicate Lexical cue image
T1 1238-1245 Glycan_Motif denotes glucose https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G15021LG

sentences

Id Subject Object Predicate Lexical cue
T1 0-101 Sentence denotes Mitochondrial ND5 gene variation associated with encephalomyopathy and mitochondrial ATP consumption.
T2 102-255 Sentence denotes Mitochondrial encephalomyopathy and lactic acidosis with strokelike episodes (MELAS) is a severe young onset stroke disorder without effective treatment.
T3 256-375 Sentence denotes We have identified a MELAS patient harboring a 13528A-->G mitochondrial DNA (mtDNA) mutation in the Complex I ND5 gene.
T4 376-475 Sentence denotes This mutation was homoplasmic in mtDNA from patient muscle and nearly homoplasmic (99.9%) in blood.
T5 476-652 Sentence denotes Fibroblasts from the patient exhibited decreased mitochondrial membrane potential (Deltapsim) and increased lactate production, consistent with impaired mitochondrial function.
T6 653-926 Sentence denotes Transfer of patient mtDNA to a new nuclear background using transmitochondrial cybrid fusions confirmed the pathogenicity of the 13528A-->G mutation; Complex I-linked respiration and Deltapsim were both significantly reduced in patient mtDNA cybrids compared with controls.
T7 927-1175 Sentence denotes Inhibition of the adenine nucleotide translocase or the F1F0-ATPase with bongkrekic acid or oligomycin caused a loss of potential in patient mtDNA cybrid mitochondria, indicating a requirement for glycolytically generated ATP to maintain Deltapsim.
T8 1176-1335 Sentence denotes This was confirmed by inhibition of glycolysis with 2-deoxy-D-glucose, which caused depletion of ATP and mitochondrial depolarization in patient mtDNA cybrids.
T9 1336-1556 Sentence denotes These data suggest that in response to impaired respiration due to the mtDNA mutation, mitochondria consume ATP to maintain Deltapsim, representing a potential pathophysiological mechanism in human mitochondrial disease.

GlyCosmos6-Glycan-Motif-Structure

Id Subject Object Predicate Lexical cue
T1 1238-1245 https://glytoucan.org/Structures/Glycans/G15021LG denotes glucose

Glycosmos6-MAT

Id Subject Object Predicate Lexical cue
T1 428-434 http://purl.obolibrary.org/obo/MAT_0000025 denotes muscle
T2 469-474 http://purl.obolibrary.org/obo/MAT_0000083 denotes blood
T3 469-474 http://purl.obolibrary.org/obo/MAT_0000315 denotes blood

DisGeNET

Id Subject Object Predicate Lexical cue
T0 366-369 gene:4540 denotes ND5
T1 277-282 disease:C0162671 denotes MELAS
R1 T0 T1 associated_with ND5,MELAS

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 102-115 HP_0001427 denotes Mitochondrial
T2 138-153 HP_0003128 denotes lactic acidosis
T3 145-153 HP_0001941 denotes acidosis
T4 159-178 HP_0002401 denotes strokelike episodes
T5 211-217 HP_0001297 denotes stroke
T6 314-327 HP_0001427 denotes mitochondrial
T7 525-538 HP_0001427 denotes mitochondrial
T8 629-642 HP_0001427 denotes mitochondrial
T9 1281-1294 HP_0001427 denotes mitochondrial
T10 1534-1547 HP_0001427 denotes mitochondrial
T1 102-115 HP_0001427 denotes Mitochondrial
T2 138-153 HP_0003128 denotes lactic acidosis
T3 145-153 HP_0001941 denotes acidosis
T4 159-178 HP_0002401 denotes strokelike episodes
T5 211-217 HP_0001297 denotes stroke
T6 314-327 HP_0001427 denotes mitochondrial
T7 525-538 HP_0001427 denotes mitochondrial
T8 629-642 HP_0001427 denotes mitochondrial
T9 1281-1294 HP_0001427 denotes mitochondrial
T10 1534-1547 HP_0001427 denotes mitochondrial

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
17940288-2#110#113#gene4540 366-369 gene4540 denotes ND5
17940288-2#21#26#diseaseC0162671 277-282 diseaseC0162671 denotes MELAS
110#113#gene454021#26#diseaseC0162671 17940288-2#110#113#gene4540 17940288-2#21#26#diseaseC0162671 associated_with ND5,MELAS

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 138-153 HP:0003128 denotes lactic acidosis
AB2 211-217 HP:0001297 denotes stroke

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 49-66 Disease denotes encephalomyopathy http://purl.obolibrary.org/obo/MONDO_0012791
T2 102-133 Disease denotes Mitochondrial encephalomyopathy http://purl.obolibrary.org/obo/MONDO_0004675
T3 138-153 Disease denotes lactic acidosis http://purl.obolibrary.org/obo/MONDO_0006040|http://purl.obolibrary.org/obo/MONDO_0024306
T5 180-185 Disease denotes MELAS http://purl.obolibrary.org/obo/MONDO_0010789
T6 211-226 Disease denotes stroke disorder http://purl.obolibrary.org/obo/MONDO_0005098
T7 277-282 Disease denotes MELAS http://purl.obolibrary.org/obo/MONDO_0010789
T8 1534-1555 Disease denotes mitochondrial disease http://purl.obolibrary.org/obo/MONDO_0004069|http://purl.obolibrary.org/obo/MONDO_0044970

HP-phenotype

Id Subject Object Predicate Lexical cue hp_id
T1 138-153 Phenotype denotes lactic acidosis HP:0003128
T2 159-178 Phenotype denotes strokelike episodes HP:0002401
T3 211-217 Phenotype denotes stroke HP:0001297

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 283-290 OrganismTaxon denotes patient 9606
T2 420-427 OrganismTaxon denotes patient 9606
T3 497-504 OrganismTaxon denotes patient 9606
T4 665-672 OrganismTaxon denotes patient 9606
T5 881-888 OrganismTaxon denotes patient 9606
T6 1060-1067 OrganismTaxon denotes patient 9606
T7 1313-1320 OrganismTaxon denotes patient 9606
T8 1528-1533 OrganismTaxon denotes human 9606

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 428-434 Body_part denotes muscle http://purl.obolibrary.org/obo/UBERON_0001630|http://purl.obolibrary.org/obo/UBERON_0005090
T3 469-474 Body_part denotes blood http://purl.obolibrary.org/obo/UBERON_0000178
T4 476-487 Body_part denotes Fibroblasts http://purl.obolibrary.org/obo/CL_0000057
T5 539-547 Body_part denotes membrane http://purl.obolibrary.org/obo/GO_0016020|http://purl.obolibrary.org/obo/UBERON_0000094|http://purl.obolibrary.org/obo/UBERON_0000158

Anatomy-MAT

Id Subject Object Predicate Lexical cue mat_id
T1 428-434 Body_part denotes muscle http://purl.obolibrary.org/obo/MAT_0000025
T2 469-474 Body_part denotes blood http://purl.obolibrary.org/obo/MAT_0000083|http://purl.obolibrary.org/obo/MAT_0000315

CL-cell

Id Subject Object Predicate Lexical cue cl_id
T1 476-487 Cell denotes Fibroblasts http://purl.obolibrary.org/obo/CL:0000057