• Source: Scopus
1988 …2020

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Research interests

1. The complement system is a first line of defense of the intravascular space: Complement rapidly recognizes foreign entities and marks them for clearance and/or lysis. Many pathogens have evolved systems to avoid complement-activity. We are focusing on novel strategies to direct complement-dependent clearance of complement-resistant and antibiotic-resistant Gram-negative bacteria.

2. We are very interested understanding the mechanism of Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations (RVCL-S), a rare monogenic condition that results in late onset cognitive and visual dysfunction and death. RVCL-S is caused by dominant frameshift mutations in Trex1, a gene that encodes a 3' DNA exonuclease normally tethered to the ER with the nuclease domain facing the cytosol. The RVCL-S associated mutations produce a functional exonuclease that is misplaced in the cell nucleus and likely impairs the DNA damage response and genome stability.

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