| http://purl.uniprot.org/citations/23104095 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23104095 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23104095 | http://www.w3.org/2000/01/rdf-schema#comment | "We report the clinical description and molecular dissection of a new fatal human inherited disorder characterized by chronic autoinflammation, invasive bacterial infections and muscular amylopectinosis. Patients from two kindreds carried biallelic loss-of-expression and loss-of-function mutations in HOIL1 (RBCK1), a component of the linear ubiquitination chain assembly complex (LUBAC). These mutations resulted in impairment of LUBAC stability. NF-κB activation in response to interleukin 1β (IL-1β) was compromised in the patients' fibroblasts. By contrast, the patients' mononuclear leukocytes, particularly monocytes, were hyper-responsive to IL-1β. The consequences of human HOIL-1 and LUBAC deficiencies for IL-1β responses thus differed between cell types, consistent with the unique association of autoinflammation and immunodeficiency in these patients. These data suggest that LUBAC regulates NF-κB-dependent IL-1β responses differently in different cell types."xsd:string |
| http://purl.uniprot.org/citations/23104095 | http://purl.org/dc/terms/identifier | "doi:10.1038/ni.2457"xsd:string |
| http://purl.uniprot.org/citations/23104095 | http://purl.org/dc/terms/identifier | "doi:10.1038/ni.2457"xsd:string |
| http://purl.uniprot.org/citations/23104095 | http://purl.uniprot.org/core/author | "Xu Z."xsd:string |
| http://purl.uniprot.org/citations/23104095 | http://purl.uniprot.org/core/author | "Xu Z."xsd:string |
| http://purl.uniprot.org/citations/23104095 | http://purl.uniprot.org/core/author | "Virgin H.W."xsd:string |
| http://purl.uniprot.org/citations/23104095 | http://purl.uniprot.org/core/author | "Virgin H.W."xsd:string |
| http://purl.uniprot.org/citations/23104095 | http://purl.uniprot.org/core/author | "Israel L."xsd:string |
| http://purl.uniprot.org/citations/23104095 | http://purl.uniprot.org/core/author | "Israel L."xsd:string |
| http://purl.uniprot.org/citations/23104095 | http://purl.uniprot.org/core/author | "Boisson B."xsd:string |
| http://purl.uniprot.org/citations/23104095 | http://purl.uniprot.org/core/author | "Boisson B."xsd:string |
| http://purl.uniprot.org/citations/23104095 | http://purl.uniprot.org/core/author | "Israel A."xsd:string |
| http://purl.uniprot.org/citations/23104095 | http://purl.uniprot.org/core/author | "Israel A."xsd:string |
| http://purl.uniprot.org/citations/23104095 | http://purl.uniprot.org/core/author | "Casanova J.L."xsd:string |
| http://purl.uniprot.org/citations/23104095 | http://purl.uniprot.org/core/author | "Casanova J.L."xsd:string |
| http://purl.uniprot.org/citations/23104095 | http://purl.uniprot.org/core/author | "Debre M."xsd:string |
| http://purl.uniprot.org/citations/23104095 | http://purl.uniprot.org/core/author | "Debre M."xsd:string |
| http://purl.uniprot.org/citations/23104095 | http://purl.uniprot.org/core/author | "Pascual V."xsd:string |
| http://purl.uniprot.org/citations/23104095 | http://purl.uniprot.org/core/author | "Pascual V."xsd:string |
| http://purl.uniprot.org/citations/23104095 | http://purl.uniprot.org/core/author | "Notarangelo L.D."xsd:string |
| http://purl.uniprot.org/citations/23104095 | http://purl.uniprot.org/core/author | "Notarangelo L.D."xsd:string |
| http://purl.uniprot.org/citations/23104095 | http://purl.uniprot.org/core/author | "Agou F."xsd:string |
| http://purl.uniprot.org/citations/23104095 | http://purl.uniprot.org/core/author | "Agou F."xsd:string |