Douglas A. Marchuk

This study shows that ATM inhibition with AZD1390 reduces ferroptosis and neuronal death in ischemic stroke models.

The paper identifies PIK3CA mutations in developmental venous anomalies (DVA) and CCM, showing DVA act as a genetic primer for CCM through shared mutations.

This study identifies a genetic locus that reduces infarct size after ischemic stroke in mice, independent of collateral vessel anatomy, by uncovering the neuroprotective role of Msr1.

This paper develops new mouse models of cerebral cavernous malformations (CCMs) to better study drug therapies for CCM formation and hemorrhage.

The paper identifies biallelic loss of ENG or ACVRL1 through somatic mutations in HHT-related telangiectasia, supporting a two-hit mechanism over haploinsufficiency.

The paper identifies four new neuroprotective loci modulating cerebral infarct volume in mice by comparing wild-derived strains and finds candidate genes associated with these loci.

The paper visualizes clonal expansion of mutant endothelial cells in cerebral cavernous malformations using a mouse model and fluorescent reporter.