Marian Hruska-Plochan

1 month ago | cell.com | Carlo Scialo |Weijia Zhong |Somanath Jagannath |Oscar G. Wilkins |Davide Caredio |Marian Hruska-Plochan | +8 more

Keywords TDP-43 low-complexity domain RNA-binding proteins aggregation seeding spreading loss of function cryptic splicing neurodegeneration ALS/FTD Introduction Despite apparent differences, amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are increasingly recognized to have clinical, genetic, and pathological overlap.1 Transactive response DNA-binding protein of 43 kDa (TDP-43) is the major component of ubiquitinated cytoplasmic inclusions observed in both ALS and FTD...

Feb 14, 2024 | nature.com | Marian Hruska-Plochan |Vera I. Wiersma |Katharina M. Betz |Elena Tantardini |Florent Laferrière |Igor Delvendahl | +11 more

AbstractHuman cellular models of neurodegeneration require reproducibility and longevity, which is necessary for simulating age-dependent diseases. Such systems are particularly needed for TDP-43 proteinopathies1, which involve human-specific mechanisms2,3,4,5 that cannot be directly studied in animal models.