José J. Lucas

The paper demonstrates that splice-switching antisense oligonucleotides (SSOs) targeting the downstream splice acceptor site of a microexon can modulate microexon inclusion and restore protein levels of ASD risk genes.

This study uses RNA sequencing in multiplex bipolar disorder families to identify differentially expressed genes and pathways, finding significant lncRNAs and ion homeostasis dysregulation.

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

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

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

This paper generates a partially humanized mouse model of PKU with the c.1066-11G>A PAH variant, showing splicing defects, metabolic imbalances, and neurological phenotypes.

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

This study shows that reducing CK2 in HD mice improves neuroinflammation, HTT aggregation, and motor deficits by reducing synucleinopathy.

The paper compares gene expression in a mouse model of status epilepticus to human temporal lobe epilepsy tissue, finding high concordance in gene dysregulation and shared molecular features.

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

This study identifies widespread changes in mRNA polyadenylation in temporal lobe epilepsy, highlighting the role of CPEB4 in seizure severity and neurodegeneration.

This study shows that DYRK1A haploinsufficiency leads to impaired neocortical circuit development, contributing to neurological symptoms in a syndrome related to Down syndrome.