Cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma gene.
Ying HongAnnette KeylockBarbara JensenThomas S JacquesOlumide OgunbiyiEbun OmoyinmiDawn SaundersAndrew A MallickMadeleine TooleyRuth Newbury-EcobJulia RankinHywel J WilliamsVijeya GanesanPaul A BroganDespina EleftheriouPublished in: Neurology. Genetics (2020)
We provide a possible mechanism for the arteriopathy associated with heterozygous CBL variants. Identification of the key role for the RAS-MAPK pathway in CBL-mediated cerebral arteriopathy could facilitate identification of novel or repurposed druggable targets for treating these patients and may also provide therapeutic clues for other cerebral arteriopathies.