Lowe syndrome: mechanism & therapeutic opportunities
3: Identification of 2 FDA-approved drugs capable of reverting LS phenotypes
Madhivanan K, Ramadesikan S, Hsieh WC, Aguilar MC, Hanna CB, Bacallao RL, Aguilar RC. (2020). Lowe syndrome patient cells display mTOR- and RhoGTPase-dependent phenotypes alleviated by rapamycin and statins. Hum Mol Genet. Jun 27;29(10):1700-1715.