http://purl.uniprot.org/citations/20536400 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/20536400 | http://www.w3.org/2000/01/rdf-schema#comment | "AA amyloidosis invariably has been associated with fibrillar deposits of the acute phase high-density lipoprotein serum amyloid A isotypes SAA1 and SAA2. We now report the first case in a patient with no antecedent history of a chronic inflammatory or neoplastic process whose pathologic renal deposits were comprised of a mutated form of the constitutively expressed serum amyloid A4 (SAA4) protein. Analyses by tandem mass spectrometry of amyloid extracted from kidney biopsies revealed a component identical in sequence to the N-terminal portion of SAA4, except for the substitution of glycine for tryptophan at position 22 (W22G). Sequencing of genomic DNA using SAA4-specific primers showed a TGG to GGG transversion in codon 22 that accounted for the observed modification. Confirmation of the SAA4 nature of the amyloid was obtained immunohistochemically. Notably, only wild-type SAA4 was detected by mass spectrometry in the patient's serum and its concentration was within normal limits. Given the substitution of an amino acid lacking a side chain for a bulky residue, we posit that the W22G alteration would profoundly affect SAA4 stability, rendering it amyloidogenic. Our studies provide the first evidence for a novel type of AA amyloidosis in which the fibrils were formed from a mutated SAA4 protein."xsd:string |
http://purl.uniprot.org/citations/20536400 | http://purl.org/dc/terms/identifier | "doi:10.1080/13506120902879905"xsd:string |
http://purl.uniprot.org/citations/20536400 | http://purl.uniprot.org/core/author | "Wang S."xsd:string |
http://purl.uniprot.org/citations/20536400 | http://purl.uniprot.org/core/author | "Murphy C.L."xsd:string |
http://purl.uniprot.org/citations/20536400 | http://purl.uniprot.org/core/author | "Solomon A."xsd:string |
http://purl.uniprot.org/citations/20536400 | http://purl.uniprot.org/core/author | "Weiss D.T."xsd:string |
http://purl.uniprot.org/citations/20536400 | http://purl.uniprot.org/core/author | "Kestler D.P."xsd:string |
http://purl.uniprot.org/citations/20536400 | http://purl.uniprot.org/core/author | "Stevens F.A."xsd:string |
http://purl.uniprot.org/citations/20536400 | http://purl.uniprot.org/core/date | "2009"xsd:gYear |
http://purl.uniprot.org/citations/20536400 | http://purl.uniprot.org/core/name | "Amyloid"xsd:string |
http://purl.uniprot.org/citations/20536400 | http://purl.uniprot.org/core/pages | "84-88"xsd:string |
http://purl.uniprot.org/citations/20536400 | http://purl.uniprot.org/core/title | "AA amyloidosis associated with a mutated serum amyloid A4 protein."xsd:string |
http://purl.uniprot.org/citations/20536400 | http://purl.uniprot.org/core/volume | "16"xsd:string |
http://purl.uniprot.org/citations/20536400 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/20536400 |
http://purl.uniprot.org/citations/20536400 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/20536400 |
http://purl.uniprot.org/uniprot/#_B2R5G8-mappedCitation-20536400 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/20536400 |
http://purl.uniprot.org/uniprot/#_P35542-mappedCitation-20536400 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/20536400 |
http://purl.uniprot.org/uniprot/P35542 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/20536400 |
http://purl.uniprot.org/uniprot/B2R5G8 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/20536400 |