| http://purl.uniprot.org/citations/24011989 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24011989 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24011989 | http://www.w3.org/2000/01/rdf-schema#comment | "BAP31 is one of the most abundant endoplasmic reticulum (ER) membrane proteins. It is a chaperone protein involved in several pathways, including ER-associated degradation, export of ER proteins to the Golgi apparatus, and programmed cell death. BAP31 is encoded by BCAP31, located in human Xq28 and highly expressed in neurons. We identified loss-of-function mutations in BCAP31 in seven individuals from three families. These persons suffered from motor and intellectual disabilities, dystonia, sensorineural deafness, and white-matter changes, which together define an X-linked syndrome. In the primary fibroblasts of affected individuals, we found that BCAP31 deficiency altered ER morphology and caused a disorganization of the Golgi apparatus in a significant proportion of cells. Contrary to what has been described with transient-RNA-interference experiments, we demonstrate that constitutive BCAP31 deficiency does not activate the unfolded protein response or cell-death effectors. Rather, our data demonstrate that the lack of BAP31 disturbs ER metabolism and impacts the Golgi apparatus, highlighting an important role for BAP31 in ER-to-Golgi crosstalk. These findings provide a molecular basis for a Mendelian syndrome and link intracellular protein trafficking to severe congenital brain dysfunction and deafness."xsd:string |
| http://purl.uniprot.org/citations/24011989 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2013.07.023"xsd:string |
| http://purl.uniprot.org/citations/24011989 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2013.07.023"xsd:string |
| http://purl.uniprot.org/citations/24011989 | http://purl.uniprot.org/core/author | "Lathrop M."xsd:string |
| http://purl.uniprot.org/citations/24011989 | http://purl.uniprot.org/core/author | "Lathrop M."xsd:string |
| http://purl.uniprot.org/citations/24011989 | http://purl.uniprot.org/core/author | "Villard L."xsd:string |
| http://purl.uniprot.org/citations/24011989 | http://purl.uniprot.org/core/author | "Villard L."xsd:string |
| http://purl.uniprot.org/citations/24011989 | http://purl.uniprot.org/core/author | "Delepine M."xsd:string |
| http://purl.uniprot.org/citations/24011989 | http://purl.uniprot.org/core/author | "Delepine M."xsd:string |
| http://purl.uniprot.org/citations/24011989 | http://purl.uniprot.org/core/author | "Levy N."xsd:string |
| http://purl.uniprot.org/citations/24011989 | http://purl.uniprot.org/core/author | "Levy N."xsd:string |
| http://purl.uniprot.org/citations/24011989 | http://purl.uniprot.org/core/author | "Sarda P."xsd:string |
| http://purl.uniprot.org/citations/24011989 | http://purl.uniprot.org/core/author | "Sarda P."xsd:string |
| http://purl.uniprot.org/citations/24011989 | http://purl.uniprot.org/core/author | "Boespflug-Tanguy O."xsd:string |
| http://purl.uniprot.org/citations/24011989 | http://purl.uniprot.org/core/author | "Boespflug-Tanguy O."xsd:string |
| http://purl.uniprot.org/citations/24011989 | http://purl.uniprot.org/core/author | "Cau P."xsd:string |
| http://purl.uniprot.org/citations/24011989 | http://purl.uniprot.org/core/author | "Cau P."xsd:string |
| http://purl.uniprot.org/citations/24011989 | http://purl.uniprot.org/core/author | "Cacciagli P."xsd:string |
| http://purl.uniprot.org/citations/24011989 | http://purl.uniprot.org/core/author | "Cacciagli P."xsd:string |
| http://purl.uniprot.org/citations/24011989 | http://purl.uniprot.org/core/author | "Badens C."xsd:string |
| http://purl.uniprot.org/citations/24011989 | http://purl.uniprot.org/core/author | "Badens C."xsd:string |
| http://purl.uniprot.org/citations/24011989 | http://purl.uniprot.org/core/author | "Borges-Correia A."xsd:string |
| http://purl.uniprot.org/citations/24011989 | http://purl.uniprot.org/core/author | "Borges-Correia A."xsd:string |