Janani Parameswaran

This study uses human spinal cord organoids to model C9orf72 ALS, identifying early RNA splicing dysregulation and RBP network dysfunction as key features of the disease.

This study creates a mouse model with a heterozygous deletion of Sptlc1 exon 2 and finds no motor defects or ALS-like neuropathology, but homozygous mutants die prematurely.

This study shows that TMEM106B C-terminal fragments cause nucleocytoplasmic transport failure and TDP-43 mislocalization in aging brains, linking them to neurodegeneration.

This study identifies that antisense C4G2 repeat expanded RNAs, but not sense G4C2, activate the PKR/eIF2-dependent integrated stress response in C9orf72 FTD/ALS, leading to neuronal toxicity.

This study shows that KIF5A ΔExon27 mutant causes neuronal toxicity through gain of function by forming aggregates and increasing motor activity.