AI Article Synopsis
- * These mutations lead to a gain-of-function toxicity that is not yet fully understood.
- * Researchers created a human induced pluripotent stem cell (hiPSC) line from a female patient with a specific SOD1 mutation (L145F) to investigate the mechanisms behind this pathogenicity.
Article Abstract
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).
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| http://dx.doi.org/10.1016/j.scr.2020.101924 | DOI Listing |
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