D90A-SOD1 mutation in ALS: The first report of heterozygous Italian patients and unusual findings. Amyotroph. Lateral Scler. 2010; 11:216-219. [PubMed: 20184519]Giannini, F., Battistini, S., Mancuso, M., Greco, G., Ricci, C., Volpi, N., Del Corrona, A., Piazza, S. and ...
FDA加速批准Qalsody(tofersen) 肌萎缩侧索硬化症(ALS)又名“渐冻症”,是一种罕见、渐进式且致命的神经系统变性疾病。早在1993年,麻省医学院研究团队发现第一个与家族性ALS相关的基因——SOD1(超氧化物歧化酶1)。在所有ALS病例中,只有10%是家族性的,其中五分之一是由于SOD1基因突变所导致的。尽管现有的治疗手...
尽管现有的治疗手段并不能治愈ALS,但目前针对SOD1基因突变介导的ALS的治疗方法Qalsody(tofersen)获FDA加速批准,标志着ALS个性化治疗的新开始。 美国食品药品监督管理局(FDA)于2023年4月25日宣布已经加速批准Qalsody(tofersen,100mg/15ml)...
对运动神经元产生毒性;表达突变型SOD1的星形胶质细胞对运动神经元有毒性,介导ALS的神经炎症;ALS中期单核细胞浸润致小胶质细胞活化,加重神经炎症;肥大细胞分布于肌肉和坐骨神经,损害轴突的完整性;补体系统局部激活,有助于巨噬细胞募集,加速疾病进展。
9. D. Sau, S. De Biasi, L. Vitellaro-Zuccarello, P. Riso, S. Guarnieri, M. Porrini, S. Simeoni, V. Crippa, E. Onesto, I. Palazzolo, P. Rusmini, E. Bolzoni, C. Bendotti, A. Poletti. Mutation of SOD1 in ALS: a gain of a loss of function.Hum. Mol. Genet.2007, 16...
Amyotrophic lateral sclerosis (ALS) is a neural disorder that causes death of the motor neurons in the brain and spinal cord; this affects the voluntary mu... Simran,J.,Kaur,... - 《Gene》 被引量: 46发表: 2016年 Normal complement of motor units in asymptomatic familial (SOD1 mutation)...
Yet to what extent SOD1 contributes to neurotoxicity in ALS cases generally is unknown. This review discusses the toxic mechanisms of mutant SOD1 (SOD1mut) and misfolded SOD1WTin the context of ALS as well as the potential implication of these mechanisms inSOD1mutation-negative ALS. 展开 ...
Five to 10% of ALS is familial, and about 20% of familial cases are associated with mutations in the superoxide dismutase 1 (SOD1) gene. To date, 118 SOD1 mutations have been reported worldwide (www alsod.org). All are dominantly inherited, except for the D90A mutation, which is ...
We tested comparable groups of animals harboring SOD1(G93A) mutation (SOD1), and control animals (CTRL) with even numbers of males and females within each group. At the beginning of the testing period (1 month), all the animals performed for the maximum time (180 s) in both tests (...
FAMILIAL AMYOTROPHIC LATERAL SCLEROSIS WITH A MUTATION IN THE Cu/Zn SUPEROXIDE DISMUTASE (SOD1) GENE: SIBLINGS HAVING ONE AND A HALF-YEAR and ELEVEN-YEAR CLINICAL COURSES Background: Oxidative stress is considered to be the initial event during the course of vitiligo. Catalase is mainly involved...