Maria do Carmo Costa

This study shows that loss of FICD rescues motor impairments and reverses oligodendrocyte maturation deficits in a SCA3 mouse model by restoring ER homeostasis and myelination.

This study identifies blood transcript levels of DDIT4 and TRIM13 as potential biomarkers for early-stage Machado-Joseph disease, showing high accuracy in distinguishing carriers from controls.

The paper assesses apoptosis-related gene expression in MJD patients and mice to identify potential biomarkers and tissue-specific apoptosis vulnerability.

The paper identifies and compares the abundance of ATXN3 splice variants in blood and cerebellum of SCA3/MJD patients and controls, finding tissue-specific expression patterns of full-length ataxin-3 isoforms.

The paper investigates how wild-type and pathogenic ATXN3 affect ubiquitination levels in different brain regions and ages in SCA3 models.

The paper measures blood neurofilament light chain (NfL) levels in a transgenic SCA3 mouse model and finds they correlate with disease progression and severity.

This study quantifies sleep EEG changes in a SCA3 mouse model, finding increased REM duration, beta power, and spectral alterations in homozygous mice compared to wild-type.

This study investigates retinal structure and function in SCA3 patients and transgenic mice, finding correlations between retinal changes and disease severity.

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

The paper identifies 15 druggable genes that modulate ATXN3 levels and toxicity in SCA3, with FBXL3/SCF pathway showing potential as a therapeutic target.

This paper describes a novel SCA3 human embryonic stem cell line and shows that antisense oligonucleotides reduce ATXN3 aggregation and prevent aggresome formation.