Rodrigo F. Tomas

ORCID: 0009-0007-5972-0626
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About
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Research Areas
  • Genetics and Neurodevelopmental Disorders
  • Mitochondrial Function and Pathology
  • Genetic Neurodegenerative Diseases

University of Florida
2025

Alzheimer’s disease (AD) affects more than 10% of the population ≥65 y age, but underlying biological risks most AD cases are unclear. We show anti-poly-glycine-arginine (a-polyGR) positive aggregates frequently accumulate in sporadic autopsy brains (45/80 cases). hypothesize that these caused by one or polyGR-encoding repeat expansion mutations. developed a CRISPR/deactivated-Cas9 enrichment strategy to identify candidate GR-encoding mutations directly from genomic DNA isolated a-polyGR(+)...

10.1073/pnas.2416885122 article EN cc-by-nc-nd Proceedings of the National Academy of Sciences 2025-02-12
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