| http://purl.uniprot.org/citations/23685073 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23685073 | http://www.w3.org/2000/01/rdf-schema#comment | "The prevalence of intellectual disability is around 3%; however, the etiology of the disease remains unclear in most cases. We identified a series of patients with X-linked intellectual disability presenting mutations in the Rad6a (Ube2a) gene, which encodes for an E2 ubiquitin-conjugating enzyme. Drosophila deficient for dRad6 display defective synaptic function as a consequence of mitochondrial failure. Similarly, mouse mRad6a (Ube2a) knockout and patient-derived hRad6a (Ube2a) mutant cells show defective mitochondria. Using in vitro and in vivo ubiquitination assays, we show that RAD6A acts as an E2 ubiquitin-conjugating enzyme that, in combination with an E3 ubiquitin ligase such as Parkin, ubiquitinates mitochondrial proteins to facilitate the clearance of dysfunctional mitochondria in cells. Hence, we identify RAD6A as a regulator of Parkin-dependent mitophagy and establish a critical role for RAD6A in maintaining neuronal function."xsd:string |
| http://purl.uniprot.org/citations/23685073 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.molcel.2013.04.012"xsd:string |
| http://purl.uniprot.org/citations/23685073 | http://purl.uniprot.org/core/author | "Esposito G."xsd:string |
| http://purl.uniprot.org/citations/23685073 | http://purl.uniprot.org/core/author | "Craessaerts K."xsd:string |
| http://purl.uniprot.org/citations/23685073 | http://purl.uniprot.org/core/author | "De Strooper B."xsd:string |
| http://purl.uniprot.org/citations/23685073 | http://purl.uniprot.org/core/author | "Kalscheuer V.M."xsd:string |
| http://purl.uniprot.org/citations/23685073 | http://purl.uniprot.org/core/author | "Verstreken P."xsd:string |
| http://purl.uniprot.org/citations/23685073 | http://purl.uniprot.org/core/author | "Vos M."xsd:string |
| http://purl.uniprot.org/citations/23685073 | http://purl.uniprot.org/core/author | "Morais V.A."xsd:string |
| http://purl.uniprot.org/citations/23685073 | http://purl.uniprot.org/core/author | "Van Esch H."xsd:string |
| http://purl.uniprot.org/citations/23685073 | http://purl.uniprot.org/core/author | "Matta S."xsd:string |
| http://purl.uniprot.org/citations/23685073 | http://purl.uniprot.org/core/author | "Nascimento R.M."xsd:string |
| http://purl.uniprot.org/citations/23685073 | http://purl.uniprot.org/core/author | "Vianna-Morgante A.M."xsd:string |
| http://purl.uniprot.org/citations/23685073 | http://purl.uniprot.org/core/author | "Vilain S."xsd:string |
| http://purl.uniprot.org/citations/23685073 | http://purl.uniprot.org/core/author | "Haddad D.M."xsd:string |
| http://purl.uniprot.org/citations/23685073 | http://purl.uniprot.org/core/author | "Leyssen M."xsd:string |
| http://purl.uniprot.org/citations/23685073 | http://purl.uniprot.org/core/date | "2013"xsd:gYear |
| http://purl.uniprot.org/citations/23685073 | http://purl.uniprot.org/core/name | "Mol Cell"xsd:string |
| http://purl.uniprot.org/citations/23685073 | http://purl.uniprot.org/core/pages | "831-843"xsd:string |
| http://purl.uniprot.org/citations/23685073 | http://purl.uniprot.org/core/title | "Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy."xsd:string |
| http://purl.uniprot.org/citations/23685073 | http://purl.uniprot.org/core/volume | "50"xsd:string |
| http://purl.uniprot.org/citations/23685073 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/23685073 |
| http://purl.uniprot.org/citations/23685073 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/23685073 |
| http://purl.uniprot.org/uniprot/P25153#attribution-59E42973D961F1D6BB90C2D3BDCCB9EB | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/23685073 |