R. Nair

The paper develops ASO Atlas, a database of RNase H-mediated ASO sequences and their efficacy, and trains OligoAI, a deep learning model to predict ASO efficacy based on sequence and chemical features, reducing screening effort by 5.72-fold.

The paper generates isogenic iPSC lines with a C9ORF72 G4C2 repeat expansion to model ALS and FTD, showing both loss- and gain-of-function pathologies.

The paper describes the generation and validation of C9orf72 repeat expansion knock-in iPSC lines for ALS and FTD research, showing they differentiate into neurons and display disease-related pathologies.

The paper generates a mouse model with a humanised C9orf72 repeat expansion to study ALS and FTD, and demonstrates a method for creating such repeat expansions in genomic sequences.

This study shows USP30 inhibition improves mitochondrial health through both PINK1-dependent and independent mechanisms, enhancing mitophagy and mitochondrial efficiency in neurons.

This study characterizes a mouse model with TDP-43 M323K mutation, showing cognitive, motor, and structural brain abnormalities linked to TDP-43 mislocalization and increased levels.

This study shows that the FUSDelta14 mutation causes neurodevelopmental and systemic metabolic issues in mice, including brain structural abnormalities and metabolic pathway changes.

The paper creates genomically humanised knock-in mice for ALS/FTD genes SOD1, TARDBP, and FUS, showing they express human proteins at endogenous levels and are phenotypically normal.

This study shows that ALS-FUS mutations disrupt HuD/ELAVL4 and FMRP activities, leading to axon phenotypes in motoneurons through altered transcript stability.