Patricia Leonor Musolino

This study shows that smooth muscle dysfunction caused by ACTA2 mutations leads to cerebrovascular reserve failure, increasing brain vulnerability to hypoperfusion and injury.

This paper develops a customized CRISPR-Cas9 base editor to correct the ACTA2 R179H mutation in a mouse model of MSMDS, improving survival and rescuing vascular and neurological phenotypes.

This paper develops a novel mouse model of cerebral adrenoleukodystrophy (cALD) that replicates human disease features and highlights NLRP3 inflammasome activation in lesion pathogenesis.