Cesar Alves

MAPK Signaling and Angiopoietin-2 Contribute to Endothelial Permeability in Capillary Malformations

This study identifies GNAQ R183Q mutation-induced endothelial barrier dysfunction in capillary malformations and shows that targeting MAPK signaling and ANGPT2 can restore barrier integrity.

An inappropriate decline in ribosome levels drives a diverse set of neurodevelopmental disorders

The paper identifies how reduced ribosome levels in neural progenitor cells contribute to neurodevelopmental disorders and shows that mTOR activation can alleviate these defects.

Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Novel Pediatric Neuroferritinopathy

This study identifies heterozygous FTH1 variants causing a novel pediatric neuroferritinopathy with neuroimaging and neuropathological features, and suggests antisense oligonucleotide therapy.