Michelle Dias

Early MATR3 loss and distinct neurodegenerative molecular signatures precede the onset of neuropathology in motor neurons and Purkinje cells of MATR3 S85C knock-in mouse model of ALS

The big tau splice isoform resists Alzheimer's-related pathological changes

This study identifies big tau, a splice isoform of tau, as more abundant in brain regions resistant to Alzheimer's pathology and shows its protective properties in human patients.

Histone proteoform analysis reveals epigenetic changes in adult mouse brown adipose tissue in response to cold stress

The paper quantifies histone modifications and DNA methylation in mouse BAT under different cold conditions, revealing epigenetic changes linked to thermogenic response.

Differential effects of MATR3 variants on its cryptic splicing repression function

This study investigates how MATR3 variants affect cryptic splicing repression, showing that some variants reduce protein solubility and impair RNA binding and splicing regulation.

SF3B1-dependent alternative splicing is critical for maintaining endometrial homeostasis and the establishment of pregnancy

This study identifies SF3B1-dependent alternative splicing as essential for endometrial homeostasis and pregnancy, showing its role in decidualization and embryo implantation.