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NPJ Genomic Medicine|August 11, 2023
Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicineMacarena Las Heras, Benjamín Szenfeld, Rami A Ballout, et al.Journal of Inherited Metabolic Disease|June 18, 2026
A Rapamycin Pharmacogenomic Approach for the Childhood Dementia Niemann-Pick CBenjamín Szenfeld, Macarena Las Heras, Juan Carlos Rubilar, et al.International Journal of Molecular Sciences|July 27, 2022
Genetic Background Matters: Population-Based Studies in Model Organisms for Translational ResearchValeria Olguín, Anyelo Durán, Macarena Las Heras, et al.Cytoskeleton (Hoboken, N.J.)|February 7, 2017
Microtubule-regulating proteins and cAMP-dependent signaling in neuroblastoma differentiationPablo Muñoz-Llancao, Cristian de Gregorio, Macarena Las Heras, et al.International Journal of Molecular Sciences|March 11, 2023
A Mouse Systems Genetics Approach Reveals Common and Uncommon Genetic Modifiers of Hepatic Lysosomal Enzyme Activities and GlycosphingolipidsAnyelo Durán, David A Priestman, Macarena Las Heras, et al.Biochemistry and Biophysics Reports|August 30, 2021
Identification of genetic modifiers of murine hepatic β-glucocerebrosidase activityAnyelo Durán, Boris Rebolledo-Jaramillo, Valeria Olguin, et al.FEBS Letters|June 12, 2025
Genomic modifiers of neurological resilience in a Niemann-Pick C familyMacarena Las Heras, Benjamín Szenfeld, Valeria Olguín, et al.Molecular Therapy : the Journal of the American Society of Gene Therapy|January 12, 2025
Artificial enforcement of the unfolded protein response reduces disease features in multiple preclinical models of ALS/FTDVicente Valenzuela, Daniela Becerra, José I Astorga, et al.Iscience|November 9, 2020
c-Abl Inhibition Activates TFEB and Promotes Cellular Clearance in a Lysosomal DisorderPablo S Contreras, Pablo J Tapia, Lila González-Hódar, et al.Pageof 1