Akshay Bhinge

This study shows FET fusion proteins regulate alternative splicing in sarcomas through RNA-binding protein networks, independent of their transcriptional activity, and identifies actionable splicing targets.

This study identifies a functional interaction between SNRNP70 and TDP-43 that is essential for motor neuron development and regulates RNP granule assembly.

The paper uses single-cell RNA sequencing to show that TDP-43 mislocalisation disrupts chromatin remodelling in spinal neurons, identifying ACTL6B as a key inhibited factor in ALS.

The paper identifies RNA-binding proteins (RBPs) whose regulation of synaptic mRNAs is enriched for schizophrenia genetic risk variants.

This study develops a human model of TDP43 proteinopathy by inducing endogenous TDP43 mislocalization in iPSC-derived neurons, revealing its role in neurodegeneration and splicing defects.

The paper identifies CCDC146 as a modifier of ALS survival through primary cilia dysfunction and shows ASO targeting of CCDC146 rescues ALS phenotypes in human and mouse models.

The paper introduces ePRINT, a method to globally map RBP-RNA interactions without purifying individual RBPs, revealing direct and indirect targets and differential activation during cell fate transitions.

The paper shows that Wnt-7a signaling from dendritic filopodia, combined with calcium signaling, is essential for synapse formation in cortical neurons.

The paper develops a novel epigenetic clock for fetal brain development to predict prenatal age in iPSCs and derived neurons, showing they remain epigenetically fetal despite differentiation.

The paper uses single cell transcriptomics to identify master regulators of dysfunctional pathways in SOD1 ALS motor neurons, finding SMAD2 activation as a key driver of neurodegeneration.