Genomic Modifiers of Neurological Resilience in a Niemann-Pick C family
Macarena Las Heras, Benjamín Szenfeld, Valeria Olguín, Juan Carlos Rubilar, Juan F. Calderón, Yanireth Jimenez, Silvana Zanlungo, Emanuele Buratti, Andrea Dardis, Francisco A. Cubillos, Andrés D. Klein
The paper identifies genomic modifiers of neurological resilience in Niemann-Pick C disease by analyzing exomes from a family with diverse phenotypes and validates findings in yeast models.
FEBS Letters · Jun 12, 2025Peer-reviewedGenetic & Genomic Medicine