Author

Juan Carlos Rubilar

Universidad del DesarrolloORCID 0000-0001-7970-9458Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Pharmacology & Toxicology· 1

Signature Assays, Organisms & Methods

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Research Focus:cell type annotation· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Assay:proteomics· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1 Organism:yeast· 1

Frequent Co-Authors

Andrés D. KleiniD· 2 shared Benjamín SzenfeldiD· 2 shared Francisco A. CubillosiD· 2 shared Andrea DardisiD· 1 shared Emanuele BurattiiD· 1 shared Juan F. CalderóniD· 1 shared Macarena Las HerasiD· 1 shared Silvana ZanlungoiD· 1 shared

Activity by Year

2025-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Andrés D. KleinORCID

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2 papers

Recent·Most cited

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

Oxidative stress and vacuolar variants influence paraquat response in Saccharomyces cerevisiae of different genetic variants

Juan Carlos Rubilar, Benjamín Szenfeld, Francisco A. Cubillos, Andrés D. Klein

This study examines how genetic variants in Saccharomyces cerevisiae affect paraquat toxicity, finding strain-specific differences in growth, oxidative stress, and vacuolar responses.

bioRxiv · May 27, 2025 · PreprintPharmacology & Toxicology