SMN1 Gene Mutation and mRNA Splicing: Key Molecular Mechanisms Explained

Understand how SMN1 gene mutations impair snRNP assembly and disrupt mRNA splicing. Explore the molecular basis of spinal muscular atrophy and strengthen your molecular biology knowledge for exams.

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Nuclear localization of #TDP43 is crucial for its function during #RNAprocessing & #neurodegeneration. @AyalaLab1 &co show that #RNAbinding & macromolecular assembly, including via #LLPS, play a central role in TDP-43 nuclear retention #PLOSBiology https://plos.io/3v372fT
RNA-mediated ribonucleoprotein assembly controls TDP-43 nuclear retention

TDP-43 nuclear localization is crucial for its function during RNA processing and pathogenesis of neurodegenerative disorders. This manuscript demonstrates that RNA binding and macromolecular assembly, through multivalent interactions and liquid-liquid phase separation, play a central role in TDP-43 nuclear retention.