Cerebral arteriopathy can be caused by a genetic disruption of intracellular signaling

Takeaway

  • Mutations in the casitas B-lineage lymphoma (CBL) gene which lead to disrupted receptor expression and cell signaling were found in some people with suspected genetic cerebral arteriopathy.

Why this matters

    These findings could facilitate identification of novel or existing compounds targeting the signaling pathways affected by this mutation, which may have therapeutic potential.