Irika R. Sinha

The paper shows that restoring multiple TDP-43 cryptic targets, not just Unc13a, rescues motor neuron disease in a mouse model of ALS.

This study shows that preventing cryptic splicing of UNC13A and other TDP-43 targets can preserve memory and reduce neuron loss in a TDP-43 knockout mouse model.

This study identifies brain region-specific TDP-43 pathology patterns in ageing, Alzheimer's disease, and amyotrophic lateral sclerosis, showing strong correlations with ferritin levels as a potential biomarker.

This study uses a BBB-permeable AAV to deliver CTR and restore TDP-43 function in a mouse model of FTLD-TDP, reducing deficits and neuron loss.

AAV-PHP.eB-CTR gene therapy slows ALS progression and prevents paralysis in symptomatic mice by restoring TDP-43 function.

The paper identifies novel cryptic exons in TDP-43 deficient neurons by inhibiting nonsense-mediated decay, revealing potential therapeutic targets for ALS-FTD.

This study shows that 5-ethynyluridine (5EU) causes nuclear accumulation of TDP-43 and other RNA-binding proteins by altering RNA metabolism and splicing.

This study shows that elevated nuclear TDP-43 causes species-specific exon skipping, which differs from exon skipping seen in TDP-43 loss-of-function, highlighting the need for careful interpretation of TDP-43 overexpression models.

The paper uses large-scale RNA-seq data to show that ciclopirox triggers TDP-43 cryptic exon inclusion through oxidative stress and heavy metal toxicity.

The paper identifies a fluid biomarker, cryptic HDGFL2, that detects early TDP-43 splicing repression in pre-symptomatic ALS patients.