Consistent with the aforementioned results, Western blot analyses in PHs demonstrated that RAPA treatment following PA stimulation decreased p-p70S6K (indicating mTOR inhibition), reduced levels of p-TFEB, p62, and LC3-II, and increased LAMP2 expression and nuclear TFEB accumulation, collectively indicating restored autophagy-lysosome function. The gene discussed is LAMP2; the disease is Pallister-Hall syndrome.