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The same year, studies in yeast revealed that NMD depends on the UPF1 gene, the product of which plays a central role in degrading transcripts containing PTCs [4]

doi: 10.1038/bmt.2012.244, 24 KigerlK

The course is usually one of slowly progressive, mostly symmetric weakness, with the exception of a few types with rapid progression or asymmetric weakness

The measurement of total serum selenium concentration or circulating selenoproteins, including GPX-3 and selenoprotein P, can be used to evaluate the selenium status, which is variable depending on the geographical area, being high in North America and relatively low in most European countries, in particular in the Eastern Europe (5052)

the first-generation molecule DT-216 was discontinued because of injection-site tolerability, and the second-generation DT-216P2 entered a Phase 1/2 trial (RESTORE-FA) in 2025

Evidence suggests that iron regulates ECM deposition and remodeling via oxidative stress, indicating its critical role in ECM integrity (Maldonado and Nam, 2013