Ainara Elorza

This study shows that increasing RBFOX1 levels in HD mice corrects mis-splicing and reduces neuropathology and motor symptoms.

This study identifies aberrant CPEB4 splicing and downstream mis-expression of SCZ-risk genes as a novel etiological mechanism in schizophrenia.

The paper identifies HD-specific mis-splicing using intersect-RNA-seq in human and mouse models, revealing pathogenic splicing factors and effector genes.