D'Anzi Angela, Altieri Filomena, Perciballi Elisa, Ferrari Daniela, Bernardini Laura, Goldoni Marina, Mazzini Letizia, De Marchi Fabiola, Di Pierro Alice, D'Alfonso Sandra, Gelati Maurizio, Vescovi Angelo Luigi, Rosati Jessica
Fondazione IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit - Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy.
University of Milano Bicocca, Department of Biotechnology and Biosciences, Piazza della Scienza 2, 20126 Milan, Italy.
Stem Cell Res. 2020 Aug;47:101924. doi: 10.1016/j.scr.2020.101924. Epub 2020 Jul 25.
Among the known causative genes of familial ALS, SOD1mutation is one of the most common. It encodes for the ubiquitous detoxifying copper/zinc binding SOD1 enzyme, whose mutations selectively cause motor neuron death, although the mechanisms are not as yet clear. What is known is that mutant-mediated toxicity is not caused by loss of its detoxifying activity but by a gain-of-function. In order to better understand the pathogenic mechanisms of SOD1 mutation, a human induced pluripotent stem cell (hiPSC) line was generated from the somatic cells of a female patient carrying a missense variation in SOD1 (L145F).
在已知的家族性肌萎缩侧索硬化症（ALS）致病基因中，超氧化物歧化酶1（SOD1）突变是最常见的突变之一。它编码普遍存在的解毒铜/锌结合SOD1酶，尽管其机制尚不清楚，但该酶的突变会选择性地导致运动神经元死亡。已知突变介导的毒性不是由其解毒活性丧失引起的，而是由功能获得引起的。为了更好地理解SOD1突变的致病机制，从一名携带SOD1错义变异（L145F）的女性患者的体细胞中生成了一条人诱导多能干细胞（hiPSC）系。
