Dietmar Rudolf Thal

Progranulin haploinsufficiency disrupts cathepsin D function, resulting in lysosomal abnormalities and elevated TDP-43 levels in the mouse brain

Introduction Frontotemporal dementia (FTD) is a leading cause of early-onset neurodegeneration, frequently linked to mutations in the GRN gene, which encodes the protein progranulin (PGRN). PGRN is known to play a crucial role in lysosomal function, and its deficiency contributes...

Tau isoform mapping across tissues and biofluids reveals a signature distinguishing Alzheimer’s disease from amyotrophic lateral sclerosis

Abstract Blood phosphorylated tau 217 (p-tau217) accurately detects Alzheimer’s disease (AD) pathology but is also elevated in amyotrophic lateral sclerosis (ALS), likely reflecting peripheral (big) tau released from muscle. Assays selectively measuring brain-derived (BD-) tau an...