Neuroprotective modulation of the unfolded protein response in Marinesco-Sj?gren syndrome: PERK signaling inhibition and beyond
Elena Restelli
Antonio Masone
Michele Sallese
Roberto Chiesa
摘要：Individuals with Marinesco-Sj?gren syndrome (MSS;OMIM 248800), a genetic disease of infancy, suffer var-ious disabilities, including loss of motor coordination due to cerebellar degeneration, and skeletal muscle weak-ness. After a progressive phase, symptoms stabilize and patients live to old age. Therefore, any pharmacological treatment that delays or attenuates cerebellar degenera-tion and/or muscle pathology can significantly improve their quality of life. We recently found that inhibiting the protein kinase RNA-like endoplasmic reticulum kinase (PERK) delays cerebellar degeneration, and ameliorates motor function and muscle pathology in a MSS mouse model (Grande et al., 2018). This is the first preclinical study of a pharmacological treatment for MSS. Here we summarize our findings, and discuss how this therapeutic strategy might be improved for effective treatment.
机标关键词：
资助基金：a grant from Fondazione Telethon, (No. GGP1222)
论文发表日期：2019-01-01
在线出版日期：2025-08-15（本平台首次上网日期，不代表文献的发表时间）
页数：3( 62-64 )