An international research team discovered a new mechanism crucial for the production of cellular proteins that, when disrupted, causes inaccuracies in protein production through splicing. Led by Goethe University Frankfurt, the study sheds light on how mutations may lead to retinal disease and potential treatments for various diseases, including cancers, Parkinson’s, and Alzheimer’s. The mechanism involves specific components of the spliceosome that stabilize as a complex and ensure accurate splicing. Disruptions in this mechanism can result in the production of dysfunctional proteins, leading to cell death. This unexpected discovery opens the door to potential new therapeutic approaches for cancer and other diseases.
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Researchers discover how mutations disrupt protein splicing and cause disease
