Patrı́cia Maciel

This paper introduces PRO-FitS, a C. elegans-based phenotypic assay to identify proteostasis enhancers, validated through mTOR inhibition and serotonergic signaling effects on heat shock-induced proteotoxicity.

This study examines HPA-axis regulation and corticosterone fluctuations in SCA3 mice, finding normal HPA-axis function and minimal stress impact on disease progression.

This study shows that CLR01, a supramolecular tweezer, reduces Atx3 aggregation by binding to a specific site, delaying fibril formation and improving symptoms in SCA3 models.

This study tests the 5-HT1A agonist NLX-112 in SCA3 mice, finding it improves motor performance in a swimming test.

This study evaluates NLX-112, a 5-HT1A receptor agonist, in a mouse model of SCA3, showing improved motor function and neuroprotection when administered pre-symptomatically.

This study identifies dopamine and catecholamines as inhibitors of Atx3 aggregation, suggesting potential use of dopaminergic drugs for MJD treatment.

This study identifies ATXN3's role in regulating neuronal mRNA splicing and Tau isoform ratio through deubiquitylation of splicing factors, linking it to SCA3 pathology.

This study shows that in a mouse model of SCA3, abnormal cerebellar output occurs early, before visible neuronal damage, and may be a target for therapy.

MorphData automates the extraction of morphological features from microglial cells in ImageJ, reducing data collection time from weeks to minutes.

The paper identifies neurochemical biomarkers of SCA3 pathology in mouse models and shows their reversibility with ATXN3 reduction.

This study identifies 99 genes associated with autism spectrum disorder through large-scale exome sequencing, showing differences in mutation frequencies between ASD and severe neurodevelopmental delay groups.

The paper identifies de novo epigenetic variations in congenital disorders and shows their impact on gene expression and potential diagnostic relevance.