Author

Patrícia Ashton‐Prolla

Universidade Federal do Rio Grande do SulORCID 0000-0002-5093-4739Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Molecular Biology· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Assay:multiome· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Arthur Bandeira de Mello GarciaiD· 2 shared Clévia RossetiD· 2 shared Cristina Brinckmann Oliveira Netto· 1 shared Édina PolettoiD· 1 shared Eduardo Cremonese Filippi‐ChielaiD· 1 shared Guilherme BaldoiD· 1 shared Guilherme Danielski ViolaiD· 1 shared Larissa Brussa ReisiD· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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2 shared papersMolecular Biology

Arthur Bandeira de Mello GarciaORCID

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2 papers

Recent·Most cited

Molecular BiologybioRxivPreprintAug 11, 2026

Metformin modulates autophagy in heterozygous and CRISPR-edited TSC2 primary fibroblasts

Guilherme Danielski Viola, Pedro Ozório Brum, Arthur Bandeira de Mello Garcia…·Clévia Rosset

This study shows that metformin restores autophagy in TSC2 haploinsufficient and CRISPR-edited fibroblasts by blocking mTORC1, suggesting a potential therapeutic strategy for TSC.

DOI 10.64898/2026.08.11.743350

humanexperimental assay

Genetic & Genomic MedicinemedRxivPreprintJan 30, 2025

TSC1 mRNA processing alterations in tuberous sclerosis complex (TSC) patients with negative or inconclusive genetic testing results

Arthur Bandeira de Mello Garcia, Taís da Silveira Fischer, Maria Clara de Freitas Pinho…·Clévia Rosset

This study identifies mRNA processing errors in TSC patients with negative or inconclusive genetic tests using cDNA analysis, reclassifying a variant of uncertain significance as pathogenic.

DOI 10.1101/2025.01.30.25321206

humanmultiome