Intronic variant increases parkinson disease risk by disrupting branchpoint sequence

Intronic variant increases parkinson disease risk by disrupting branchpoint sequence

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A genetic variant specific to people of African ancestry increases the risk of neurodegenerative diseases, such as Parkinson disease (PD). This variant occurs in a noncoding region and


interferes with the splicing of mRNA transcripts, resulting in lowered protein levels and activity. This work reveals a novel therapeutic target in an underserved and underrepresented


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GENETIC RESEARCH. Article  Google Scholar  Download references ADDITIONAL INFORMATION PUBLISHER’S NOTE Springer Nature remains neutral with regard to jurisdictional claims in published maps


and institutional affiliations. THIS IS A SUMMARY OF: Álvarez Jerez, P. et al. African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in _GBA1_. _Nat. Struct. Mol.


Biol_. https://doi.org/10.1038/s41594-024-01423-2 (2024). RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Intronic variant increases Parkinson disease


risk by disrupting branchpoint sequence. _Nat Struct Mol Biol_ 32, 12–13 (2025). https://doi.org/10.1038/s41594-024-01424-1 Download citation * Published: 02 January 2025 * Issue Date:


January 2025 * DOI: https://doi.org/10.1038/s41594-024-01424-1 SHARE THIS ARTICLE Anyone you share the following link with will be able to read this content: Get shareable link Sorry, a


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