| http://purl.uniprot.org/citations/18567016 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18567016 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18567016 | http://www.w3.org/2000/01/rdf-schema#comment | "We report the identification and functional analysis of the first missense ADAMTS10 mutation (c.73G>A; p.Ala25Thr) causing recessive Weill-Marchesani syndrome (WMS). The Ala25 residue affected by the missense mutation is at the -1 position relative to the ADAMTS10 signal peptidase cleavage site. p.Ala25Thr substituted full-length ADAMTS10 showed consistent and significantly diminished secretion in both HEK293F and Cos-1 cells. However, a C-terminally truncated construct lacking the ancillary domain and containing only the signal peptide, the propeptide and the catalytic domain (p.Ala25Thr Pro-Cat) was efficiently secreted in both HEK293F cells and Cos-1 cells. Edman degradation of purified p.Ala25Thr Pro-Cat and p.Ala25Thr substituted full-length ADAMTS10 from HEK293F cells demonstrated correct signal peptide processing. Thus, the p.Ala25Thr substitution hinders secretion of full-length ADAMTS10, but not Pro-Cat from cells, yet permits signal peptide removal. We infer that folding of the complex C-terminal ancillary domain is the rate-limiting step in biosynthesis of ADAMTS10, and that it (but not Pro-Cat) is sensitive to subtle changes in efficiency of signal peptide cleavage. These observations represent an unprecedented effect of a signal peptide mutation and support a model in which the initial cotranslational processing events during protein biosynthesis can have long-range effects on protein folding and secretion."xsd:string |
| http://purl.uniprot.org/citations/18567016 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.20797"xsd:string |
| http://purl.uniprot.org/citations/18567016 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.20797"xsd:string |
| http://purl.uniprot.org/citations/18567016 | http://purl.uniprot.org/core/author | "Wang L.W."xsd:string |
| http://purl.uniprot.org/citations/18567016 | http://purl.uniprot.org/core/author | "Wang L.W."xsd:string |
| http://purl.uniprot.org/citations/18567016 | http://purl.uniprot.org/core/author | "Traboulsi E.I."xsd:string |
| http://purl.uniprot.org/citations/18567016 | http://purl.uniprot.org/core/author | "Traboulsi E.I."xsd:string |
| http://purl.uniprot.org/citations/18567016 | http://purl.uniprot.org/core/author | "Cormier-Daire V."xsd:string |
| http://purl.uniprot.org/citations/18567016 | http://purl.uniprot.org/core/author | "Cormier-Daire V."xsd:string |
| http://purl.uniprot.org/citations/18567016 | http://purl.uniprot.org/core/author | "Apte S.S."xsd:string |
| http://purl.uniprot.org/citations/18567016 | http://purl.uniprot.org/core/author | "Apte S.S."xsd:string |
| http://purl.uniprot.org/citations/18567016 | http://purl.uniprot.org/core/author | "Dagoneau N."xsd:string |
| http://purl.uniprot.org/citations/18567016 | http://purl.uniprot.org/core/author | "Dagoneau N."xsd:string |
| http://purl.uniprot.org/citations/18567016 | http://purl.uniprot.org/core/author | "Kutz W.E."xsd:string |
| http://purl.uniprot.org/citations/18567016 | http://purl.uniprot.org/core/author | "Kutz W.E."xsd:string |
| http://purl.uniprot.org/citations/18567016 | http://purl.uniprot.org/core/author | "Odrcic K.J."xsd:string |
| http://purl.uniprot.org/citations/18567016 | http://purl.uniprot.org/core/author | "Odrcic K.J."xsd:string |
| http://purl.uniprot.org/citations/18567016 | http://purl.uniprot.org/core/date | "2008"xsd:gYear |
| http://purl.uniprot.org/citations/18567016 | http://purl.uniprot.org/core/date | "2008"xsd:gYear |
| http://purl.uniprot.org/citations/18567016 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/18567016 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/18567016 | http://purl.uniprot.org/core/pages | "1425-1434"xsd:string |
| http://purl.uniprot.org/citations/18567016 | http://purl.uniprot.org/core/pages | "1425-1434"xsd:string |