Proteostasis modulation in germline missense von Hippel Lindau disease.

Prashant Chittaboina Debjani Mandal Alejandro Bugarini David T Asuzu Dustin Mullaney Panagiotis Mastorakos Stefan Stoica Reinier Alvarez Gretchen C Scott Dragan Maric Abdel G Elkahloun Zhengping Zhuang Emily Y Chew Chunzhang Yang W Marston Linehan Russell R Lonser

Published in: Clinical cancer research : an official journal of the American Association for Cancer Research (2023)

We found that oral vorinostat treatment in VHL patients with germline missense mutations has a potent biologic effect that warrants further clinical study. These results provide biologic evidence to support the use of proteostasis modulation for the treatment of syndromic solid tumors involving protein misfolding.

Keyphrases

rheumatoid arthritis
intellectual disability
dna repair
oxidative stress
amino acid
replacement therapy