| http://purl.uniprot.org/citations/10400992 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10400992 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10400992 | http://www.w3.org/2000/01/rdf-schema#comment | "Mutations in superoxide dismutase 1 (SOD1) polypeptides cause a form of familial amyotrophic lateral sclerosis (FALS). In different kindreds, harboring different mutations, the duration of illness tends to be similar for a given mutation. For example, patients inheriting a substitution of valine for alanine at position four (A4V) average a 1.5 year life expectancy after the onset of symptoms, whereas patients harboring a substitution of arginine for histidine at position 46 (H46R) average an 18 year life expectancy after disease onset. Here, we examine a number of biochemical and biophysical properties of nine different FALS variants of SOD1 polypeptides, including enzymatic activity (which relates indirectly to the affinity of the enzyme for copper), polypeptide half-life, resistance to proteolytic degradation and solubility, in an effort to determine whether a specific property of these enzymes correlates with clinical progression. We find that although all the mutants tested appear to be soluble, the different mutants show a remarkable degree of variation with respect to activity, polypeptide half-life and resistance to proteolysis. However, these variables do not stratify in a manner that correlates with clinical progression. We conclude that the basis for the different life expectancies of patients in different kindreds of sod1-linked FALS may result from an as yet unidentified property of these mutant enzymes."xsd:string |
| http://purl.uniprot.org/citations/10400992 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/8.8.1451"xsd:string |
| http://purl.uniprot.org/citations/10400992 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/8.8.1451"xsd:string |
| http://purl.uniprot.org/citations/10400992 | http://purl.uniprot.org/core/author | "Wong P."xsd:string |
| http://purl.uniprot.org/citations/10400992 | http://purl.uniprot.org/core/author | "Wong P."xsd:string |
| http://purl.uniprot.org/citations/10400992 | http://purl.uniprot.org/core/author | "Culotta V.C."xsd:string |
| http://purl.uniprot.org/citations/10400992 | http://purl.uniprot.org/core/author | "Culotta V.C."xsd:string |
| http://purl.uniprot.org/citations/10400992 | http://purl.uniprot.org/core/author | "Strain J."xsd:string |
| http://purl.uniprot.org/citations/10400992 | http://purl.uniprot.org/core/author | "Strain J."xsd:string |
| http://purl.uniprot.org/citations/10400992 | http://purl.uniprot.org/core/author | "Corson L.B."xsd:string |
| http://purl.uniprot.org/citations/10400992 | http://purl.uniprot.org/core/author | "Corson L.B."xsd:string |
| http://purl.uniprot.org/citations/10400992 | http://purl.uniprot.org/core/author | "Cleveland D.W."xsd:string |
| http://purl.uniprot.org/citations/10400992 | http://purl.uniprot.org/core/author | "Cleveland D.W."xsd:string |
| http://purl.uniprot.org/citations/10400992 | http://purl.uniprot.org/core/author | "Borchelt D.R."xsd:string |
| http://purl.uniprot.org/citations/10400992 | http://purl.uniprot.org/core/author | "Borchelt D.R."xsd:string |
| http://purl.uniprot.org/citations/10400992 | http://purl.uniprot.org/core/author | "Ratovitski T."xsd:string |
| http://purl.uniprot.org/citations/10400992 | http://purl.uniprot.org/core/author | "Ratovitski T."xsd:string |
| http://purl.uniprot.org/citations/10400992 | http://purl.uniprot.org/core/date | "1999"xsd:gYear |
| http://purl.uniprot.org/citations/10400992 | http://purl.uniprot.org/core/date | "1999"xsd:gYear |
| http://purl.uniprot.org/citations/10400992 | http://purl.uniprot.org/core/name | "Hum. Mol. Genet."xsd:string |
| http://purl.uniprot.org/citations/10400992 | http://purl.uniprot.org/core/name | "Hum. Mol. Genet."xsd:string |
| http://purl.uniprot.org/citations/10400992 | http://purl.uniprot.org/core/pages | "1451-1460"xsd:string |
| http://purl.uniprot.org/citations/10400992 | http://purl.uniprot.org/core/pages | "1451-1460"xsd:string |