Presynaptic endoplasmic reticulum architecture and hereditary spastic paraplegia
Juan José Pérez-Moreno
Instituto de Biomedicina de Sevilla(IBiS),Hospital Universitario Virgen Del Rocío/CSIC/Universidad de Sevilla,and Departamento de Biología Celular,Facultad de Biología,Universidad de Sevilla,Seville,Spain
摘要：Hereditary spastic paraplegia(HSP)is a clinically and genetically heterogeneous neurodegenerative disorder,characterized primarily by progressive spasticity and weakness in the lower limbs.Patients can also experience peripheral neuropathy,cognitive impairment,and other neurological symptoms.To date,more than 80 genes have been implicated in HSP,encompassing various cellular components,although mutations in genes encoding endoplasmic reticulum(ER)-shaping proteins are the most prevalent(Parodi et al.,2017).ER-shaping proteins are generally known for regulating the tubulation and curvation of the ER,but most of them show additional functions,including fusion of ER tubules,microtubule-severing,ER autophagy,lipid droplet synthesis,contact sites with other organelles(Öztürk et al.,2020).This highlights the complexity of studying the role of these proteins and the link between ER function and HSP.
机标关键词：architectureendoplasmichereditaryparaplegiapresynapticreticulumspastic
论文发表日期：2024-03-28
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：2( 485-486 )