Defne A. Amado

This study uses long-read sequencing to analyze haplotypes and CAA interruptions in ATXN2 CAG repeats, finding ethnicity-specific and ALS-specific associations.

The paper identifies chaperones in the human Hsp70 network that buffer TDP-43 toxicity by reducing aggregates and enhancing solubility.

This study investigates how TMEM106B and C9orf72 genetic variants influence TDP-43 pathology in ALS and FTLD-TDP, finding TMEM106B modifies TDP-43 aggregation severity.

This study shows that AAV-mediated GRN overexpression in mice causes hippocampal degeneration and T cell infiltration, raising safety concerns for GRN-based CNS gene therapies.