Benjamin L. Zaepfel

This study identifies a hyperactivating mutation in Fmnl2 causing brain and vertebrae defects in mice through a forward genetics screen.

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 evaluates a mouse model of C9-ALS/FTD, finding it robust for molecular mechanisms but not for neurodegeneration and motor deficits.

The paper develops NMDq, a next-generation sequencing method to quantify NMD status, and applies it to ALS and FTD, finding no significant PTC differences but showing UPF1 regulates RNA homeostasis through alternative polyadenylation.

The paper identifies POM121 as a critical nucleoporin affected by C9orf72 repeat RNA, leading to nuclear pore complex disassembly and neuronal toxicity in ALS/FTD.