Udai Bhan Pandey

This study introduces β-sheet breaking proline residues into FUS prion-like domain to prevent aggregation and toxicity while preserving phase separation and function.

This study identifies de novo KDM2A variants as a cause of a syndromic neurodevelopmental disorder with specific clinical features and functional consequences.

This study investigates how MATR3 variants affect cryptic splicing repression, showing that some variants reduce protein solubility and impair RNA binding and splicing regulation.

This study shows that HuD overexpression impairs neuromuscular junctions and induces apoptosis in ALS models, while its knockdown rescues these defects.

This study shows that C9orf72 poly(PR) causes nucleolar stress and neurotoxicity, which can be mitigated by reducing p53 levels in fly and rat models.

This study identifies axon guidance pathways as modulators of UBQLN2 toxicity in ALS/FTD, showing reduced neurodegeneration with UNC5B and DCC suppression in multiple models.

The paper identifies that poly-GR binds ribosomal RNA and shows that modified rRNA oligonucleotides can mitigate poly-GR toxicity in models of C9orf72 ALS/FTD.

The paper identifies functional and structural defects in Gemin5 variants linked to neurodevelopmental disorders, showing impaired dimerization and protein instability.

The paper identifies eRF1 and NMD as modifiers of C9orf72 repeat expansion toxicity by analyzing nucleocytoplasmic proteomic changes in ALS/FTD.