Inhibition of nonsense-mediated decay in TDP-43 deficient neurons reveals novel cryptic exons
Ling, J. P., Li, Y. et al.
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#TDP43Neurons #NonsenseMediatedDecay #CrypticExonsResearch

A WFS1 variant disrupting acceptor splice site uncovers the impact of alternative splicing on beta cell apoptosis in a patient with Wolfram syndrome - Diabetologia Aims/hypothesis Wolfram syndrome 1 (WS1) is an inherited condition mainly manifesting in childhood-onset diabetes mellitus and progressive optic nerve atrophy. The causative gene, WFS1, encodes wolfra...

Exciting research uncovers new #disease mechanisms for #WolframSyndrome: #cellstress and #inflammation impair the #NonsenseMediatedDecay, resulting in the accumulation of aberrant WFS1 mRNA isoforms and #BetaCell #apoptosis tinyurl.com/3ytj5kf4 🔓 #Endocrinology