Júlia Canet-Pons

This study shows that ATXN2 polyglutamine expansion impairs QKI-dependent alternative splicing and oligodendrocyte maintenance in a mouse model of SCA2.

The paper identifies SERPINB1 as a potential biomarker for SCA2 progression through multi-omics analysis in mice and validation in human patients.

The paper analyzes the phosphoproteome and interactome of a SCA2/ALS13 mouse model to identify altered signaling and protein interactions linked to neurodegeneration.

This study examines an SCA2 mouse model to identify molecular mechanisms of spinal cord pathology, finding progressive TDP43 aggregation and cholesterol biosynthesis suppression.

The paper identifies reduced Reelin pathway components in Ataxia Telangiectasia, linking them to cerebellar neurodegeneration and suggesting potential therapeutic targets.

This paper describes a novel SCA2 mouse model with CAG100 expansion in Atxn2, showing reduced lifespan and vestibulo-cerebellar dysfunction due to axon-myelin disconnection.