Articles with "mapt mutations" as a keyword



Conserved gene signatures shared among MAPT mutations reveal defects in calcium signaling

Sign Up to like & get
recommendations!
Published in 2022 at "Frontiers in Molecular Biosciences"

DOI: 10.3389/fmolb.2023.1051494

Abstract: Introduction: More than 50 mutations in the MAPT gene result in heterogeneous forms of frontotemporal lobar dementia with tau inclusions (FTLD-Tau). However, early pathogenic events that lead to disease and the degree to which they… read more here.

Keywords: calcium; differentially expressed; mapt mutations; conserved gene ... See more keywords

MAPT Mutations V337M and N297K Alter Organelle Trafficking in Frontotemporal Dementia Patient-Specific Motor Neurons

Sign Up to like & get
recommendations!
Published in 2024 at "Biomedicines"

DOI: 10.3390/biomedicines12030641

Abstract: Frontotemporal dementia (FTD) is a neurodegenerative disease characterized by the progressive loss of neurons mainly in the frontal and temporal lobes of the brain. Mutations (e.g., V337M, N297K) in the microtubule-associated protein TAU (MAPT) are… read more here.

Keywords: v337m n297k; frontotemporal dementia; mutations v337m; mapt mutations ... See more keywords