Ivó H. Hernández

Disruption of R2TP-mediated PIKK maturation with de novo designed binders

The paper identifies RUVBL1/2-RPAP3 interface as a vulnerability and develops de novo protein binders that selectively disrupt R2TP, reducing PIKK levels without affecting other RUVBL1/2 complexes.

TAF1-dependent transcriptional dysregulation underlies multiple sclerosis

This study identifies TAF1-dependent transcriptional dysregulation as a mechanism underlying multiple sclerosis progression and presents an in vivo model for therapeutic development.

The anti-leprosy drug clofazimine reduces polyQ toxicity through activation of PPARγ

The paper identifies clofazimine as a drug that reduces polyQ toxicity by activating PPARγ, improving mitochondrial function in models of polyQ diseases.

Pathogenic mis-splicing of CPEB4 in schizophrenia

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

Huntington's disease-specific mis-splicing captured by human-mouse intersect-RNA-seq unveils pathogenic effectors and reduced splicing factors

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

CXCR4 involvement in neurodegenerative diseases

The paper identifies a genetic variant near CXCR4 associated with increased risk for PSP and PD, showing dysregulation of CXCR4 and microglia-related genes in neurodegenerative diseases.