PubMed:24344137
Annnotations
PubMed_ArguminSci
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 115-224 | DRI_Challenge | denotes | The human hypertrophic cardiomyopathy mutation R453C results in one of the more severe forms of the myopathy. |
T2 | 225-398 | DRI_Background | denotes | Arg-453 is found in a conserved surface loop of the upper 50-kDa domain of the myosin motor domain and lies between the nucleotide binding pocket and the actin binding site. |
T3 | 399-527 | DRI_Approach | denotes | It connects to the cardiomyopathy loop via a long α-helix, helix O, and to Switch-2 via the fifth strand of the central β-sheet. |
T4 | 528-625 | DRI_Approach | denotes | The mutation is, therefore, in a position to perturb a wide range of myosin molecular activities. |
T5 | 626-767 | DRI_Outcome | denotes | We report here the first detailed biochemical kinetic analysis of the motor domain of the human β-cardiac myosin carrying the R453C mutation. |
T6 | 956-1077 | DRI_Outcome | denotes | U.S.A. 110, 12607-12612) found reduced ATPase and in vitro motility but increased force production using an optical trap. |
T7 | 1078-1183 | DRI_Outcome | denotes | Surprisingly, our results show that the mutation alters few biochemical kinetic parameters significantly. |
T8 | 1184-1395 | DRI_Approach | denotes | The exceptions are the rate constants for ATP binding to the motor domain (reduced by 35%) and the ATP hydrolysis step/recovery stroke (slowed 3-fold), which could be the rate-limiting step for the ATPase cycle. |
T9 | 1396-1575 | DRI_Outcome | denotes | Effects of the mutation on the recovery stroke are consistent with a perturbation of Switch-2 closure, which is required for the recovery stroke and the subsequent ATP hydrolysis. |
sentences
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 0-114 | Sentence | denotes | The hypertrophic cardiomyopathy myosin mutation R453C alters ATP binding and hydrolysis of human cardiac β-myosin. |
T2 | 115-224 | Sentence | denotes | The human hypertrophic cardiomyopathy mutation R453C results in one of the more severe forms of the myopathy. |
T3 | 225-398 | Sentence | denotes | Arg-453 is found in a conserved surface loop of the upper 50-kDa domain of the myosin motor domain and lies between the nucleotide binding pocket and the actin binding site. |
T4 | 399-527 | Sentence | denotes | It connects to the cardiomyopathy loop via a long α-helix, helix O, and to Switch-2 via the fifth strand of the central β-sheet. |
T5 | 528-625 | Sentence | denotes | The mutation is, therefore, in a position to perturb a wide range of myosin molecular activities. |
T6 | 626-767 | Sentence | denotes | We report here the first detailed biochemical kinetic analysis of the motor domain of the human β-cardiac myosin carrying the R453C mutation. |
T7 | 768-817 | Sentence | denotes | A recent report of the same mutation (Sommese, R. |
T8 | 818-863 | Sentence | denotes | F., Sung, J., Nag, S., Sutton, S., Deacon, J. |
T9 | 864-890 | Sentence | denotes | C., Choe, E., Leinwand, L. |
T10 | 891-922 | Sentence | denotes | A., Ruppel, K., and Spudich, J. |
T11 | 923-938 | Sentence | denotes | A. (2013) Proc. |
T12 | 939-944 | Sentence | denotes | Natl. |
T13 | 945-950 | Sentence | denotes | Acad. |
T14 | 951-955 | Sentence | denotes | Sci. |
T15 | 956-962 | Sentence | denotes | U.S.A. |
T16 | 963-1077 | Sentence | denotes | 110, 12607-12612) found reduced ATPase and in vitro motility but increased force production using an optical trap. |
T17 | 1078-1183 | Sentence | denotes | Surprisingly, our results show that the mutation alters few biochemical kinetic parameters significantly. |
T18 | 1184-1395 | Sentence | denotes | The exceptions are the rate constants for ATP binding to the motor domain (reduced by 35%) and the ATP hydrolysis step/recovery stroke (slowed 3-fold), which could be the rate-limiting step for the ATPase cycle. |
T19 | 1396-1575 | Sentence | denotes | Effects of the mutation on the recovery stroke are consistent with a perturbation of Switch-2 closure, which is required for the recovery stroke and the subsequent ATP hydrolysis. |
DisGeNET
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T0 | 1382-1388 | gene:1769 | denotes | ATPase |
T1 | 1312-1318 | disease:C0038454 | denotes | stroke |
R1 | T0 | T1 | associated_with | ATPase,stroke |
PubmedHPO
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 125-152 | HP_0001639 | denotes | hypertrophic cardiomyopathy |
T2 | 138-152 | HP_0001638 | denotes | cardiomyopathy |
T3 | 215-223 | HP_0003198 | denotes | myopathy |
T4 | 418-432 | HP_0001638 | denotes | cardiomyopathy |
T5 | 1312-1318 | HP_0001297 | denotes | stroke |
T6 | 1436-1442 | HP_0001297 | denotes | stroke |
T7 | 1534-1540 | HP_0001297 | denotes | stroke |
DisGeNET5_gene_disease
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
24344137-9#198#204#gene1769 | 1382-1388 | gene1769 | denotes | ATPase |
24344137-9#128#134#diseaseC0038454 | 1312-1318 | diseaseC0038454 | denotes | stroke |
198#204#gene1769128#134#diseaseC0038454 | 24344137-9#198#204#gene1769 | 24344137-9#128#134#diseaseC0038454 | associated_with | ATPase,stroke |
HP-phenotype
Id | Subject | Object | Predicate | Lexical cue | hp_id |
---|---|---|---|---|---|
T1 | 4-31 | Phenotype | denotes | hypertrophic cardiomyopathy | HP:0001639 |
T2 | 125-152 | Phenotype | denotes | hypertrophic cardiomyopathy | HP:0001639 |
T3 | 215-223 | Phenotype | denotes | myopathy | HP:0003198 |
T4 | 418-432 | Phenotype | denotes | cardiomyopathy | HP:0001638 |
T5 | 1312-1318 | Phenotype | denotes | stroke | HP:0001297 |
T6 | 1436-1442 | Phenotype | denotes | stroke | HP:0001297 |
T7 | 1534-1540 | Phenotype | denotes | stroke | HP:0001297 |
mondo_disease
Id | Subject | Object | Predicate | Lexical cue | mondo_id |
---|---|---|---|---|---|
T1 | 4-31 | Disease | denotes | hypertrophic cardiomyopathy | http://purl.obolibrary.org/obo/MONDO_0005045 |
T2 | 125-152 | Disease | denotes | hypertrophic cardiomyopathy | http://purl.obolibrary.org/obo/MONDO_0005045 |
T3 | 215-223 | Disease | denotes | myopathy | http://purl.obolibrary.org/obo/MONDO_0005336 |
T4 | 418-432 | Disease | denotes | cardiomyopathy | http://purl.obolibrary.org/obo/MONDO_0004994 |
T5 | 1312-1318 | Disease | denotes | stroke | http://purl.obolibrary.org/obo/MONDO_0005098|http://purl.obolibrary.org/obo/MONDO_0011057 |
T7 | 1436-1442 | Disease | denotes | stroke | http://purl.obolibrary.org/obo/MONDO_0005098|http://purl.obolibrary.org/obo/MONDO_0011057 |
T9 | 1534-1540 | Disease | denotes | stroke | http://purl.obolibrary.org/obo/MONDO_0005098|http://purl.obolibrary.org/obo/MONDO_0011057 |
NCBITAXON
Id | Subject | Object | Predicate | Lexical cue | db_id |
---|---|---|---|---|---|
T1 | 91-96 | OrganismTaxon | denotes | human | 9606 |
T2 | 119-124 | OrganismTaxon | denotes | human | 9606 |
T3 | 716-721 | OrganismTaxon | denotes | human | 9606 |
Anatomy-UBERON
Id | Subject | Object | Predicate | Lexical cue | uberon_id |
---|---|---|---|---|---|
T1 | 451-456 | Body_part | denotes | helix | http://purl.obolibrary.org/obo/UBERON_0002488 |
T2 | 458-463 | Body_part | denotes | helix | http://purl.obolibrary.org/obo/UBERON_0002488 |