PML nuclear bodies:new players in familial amyotrophic lateral sclerosis-frontotemporal dementia?
Anand Goswami1
Serena Carra2
1.Institute of Neuropathology,RWTH Aachen University Hospital,Aachen,Germany;Department of Neurology,Eleanor and Lou Gehrig ALS Center,Columbia University,New York,NY,,USA2.Department of Biomedical,Metabolic and Neural Sciences,University of Modena and Reggio Emilia,Modena,Italy
摘要：Amyotrophic lateral sclerosis(ALS)and frontotemporal dementia(FTD)are two closely related disorders with overlapping clinical,genetic,and neuropathological features,forming a continuous disease spectrum(Ling et al.,2013).The major pathological hallmark of ALS and FTD are the depletion from the nucleus of the RNA-binding proteins TAR DNA-binding protein 43(TDP-43)and FUsed in Sarcoma(FUS)and their abnormal accumulation in ubiquitin-positive cytoplasmic inclusions(Ling et al.,2013).TDP-43 and FUS,whose genetic mutations are associated with the familial forms of ALS-FTD,participate in the regulation of RNA maturation and DNA repair,key processes whose dysregulation is central in ALS-FTD pathogenesis,along with the impairment of protein homeostasis(proteostasis)(Ling et al.,2013).
机标关键词：amyotrophicbodiesdementiafamilialfrontotemporallateralnuclearplayers
论文发表日期：2024-09-28
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( 1875-1876 )