Eloy Rivas

This study identifies biallelic HMGCS1 variants as a novel cause of rigid spine syndrome, showing hypomorphic effects through functional and clinical analyses.

The paper identifies a splice-altering variant in KLHL40 causing milder NEM8, showing it leads to reduced mRNA and protein expression through aberrant splicing.

This study shows that inflammatory bowel disease (IBD) leads to α-synuclein aggregation in the gut and brain, supporting Braak's hypothesis of Parkinson's disease origin in the enteric nervous system.

This study shows TET2 regulates microglial inflammatory responses through NF-κB-dependent pathways and metabolic changes, suggesting it as a target for neurodegenerative diseases.