José Miguel Brito Armas

This study shows that loss of TDP-43 causes premature aging in skeletal muscle stem cells, reducing their regenerative capacity and leading to muscle degeneration.

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 identifies a functional interaction between TDP-43 and USP10, showing USP10 modulates alternative splicing and can reduce TDP-43 toxicity in a mouse model of ALS and FTD.

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.