Massive mutagenesis reveals an incomplete amyloid motif in Bri2 that turns amyloidogenic upon C-terminal extension

Proceedings of the National Academy of Sciences, Volume 122, Issue 18, May 2025.
SignificanceStop-loss mutations that do not trigger the non-stop-mediated-decay machinery can result in proteins with aberrant extended sequences at their C-terminus. At least 20 of these mutations are known to cause human disease. Stop-loss inITM2B/BRI2…
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