Mafalda Raposo

Allele-specific expression of ATXN3 in blood samples of Machado-Joseph disease expansion carriers.

The paper investigates allele-specific expression of ATXN3 in blood samples of Machado-Joseph disease carriers, finding lineage-dependent allelic imbalance and its potential impact on age at onset.

Age-dependent somatic expansion of the ATXN3 CAG repeat in the blood and buccal cell DNA of individuals with spinocerebellar ataxia type 3

The paper quantifies age-related somatic expansion of the ATXN3 CAG repeat in blood and buccal cells of SCA3 patients, revealing strong age associations and genetic polymorphism effects.

Small non-coding RNA content in plasma-derived extracellular vesicles distinguish ataxic SCA3 mutation carriers from pre-ataxic and control subjects

Blood DDIT4 and TRIM13 transcript levels mark the early stages of Machado-Joseph disease

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.

Tissue-specific vulnerability to apoptosis in Machado-Joseph disease

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

Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease

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.

Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease

This study identifies nine genetic loci associated with age at onset in Machado-Joseph disease, suggesting roles for DNA repair and synaptic pathways in disease progression.