Abstract
Among the known causative genes of familial ALS, SOD1 mutation 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).
Original language | English (US) |
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Article number | 101924 |
Pages (from-to) | 101924 |
Journal | Stem Cell Research |
Volume | 47 |
Early online date | Jul 25 2020 |
DOIs | |
State | Published - Aug 2020 |
ASJC Scopus subject areas
- Developmental Biology
- Cell Biology