[HTML][HTML] Conserved gene signatures shared among MAPT mutations reveal defects in calcium signaling
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 …
frontotemporal lobar dementia with tau inclusions (FTLD-Tau). However, early pathogenic …
[HTML][HTML] Synaptic gene expression changes in frontotemporal dementia due to the MAPT 10+ 16 mutation
Mutations in the MAPT gene encoding tau protein can cause autosomal dominant
neurodegenerative tauopathies including frontotemporal dementia (often with …
neurodegenerative tauopathies including frontotemporal dementia (often with …
[HTML][HTML] Isoform-specific patterns of tau burden and neuronal degeneration in MAPT-associated frontotemporal lobar degeneration
Frontotemporal lobar degeneration with MAPT pathogenic variants (FTLD-MAPT) has
heterogeneous tau pathological inclusions postmortem, consisting of three-repeat (3R) or …
heterogeneous tau pathological inclusions postmortem, consisting of three-repeat (3R) or …
[HTML][HTML] Calcium dysregulation contributes to neurodegeneration in FTLD patient iPSC-derived neurons
Mutations in the gene MAPT encoding tau, a microtubules-associated protein, cause a
subtype of familial neurodegenerative disorder, known as frontotemporal lobar degeneration …
subtype of familial neurodegenerative disorder, known as frontotemporal lobar degeneration …
[HTML][HTML] High-content image-based analysis and proteomic profiling identifies Tau phosphorylation inhibitors in a human iPSC-derived glutamatergic neuronal model …
Mutations in MAPT (microtubule-associated protein tau) cause frontotemporal dementia
(FTD). MAPT mutations are associated with abnormal tau phosphorylation levels and …
(FTD). MAPT mutations are associated with abnormal tau phosphorylation levels and …
[HTML][HTML] Microtubules deform the nuclear membrane and disrupt nucleocytoplasmic transport in tau-mediated frontotemporal dementia
F Paonessa, LD Evans, R Solanki, D Larrieu, S Wray… - Cell reports, 2019 - cell.com
The neuronal microtubule-associated protein tau, MAPT, is central to the pathogenesis of
many dementias. Autosomal-dominant mutations in MAPT cause inherited frontotemporal …
many dementias. Autosomal-dominant mutations in MAPT cause inherited frontotemporal …
The disease-causing tau V337M mutation induces tau hypophosphorylation and perturbs axon morphology pathways
GA Mohl, G Dixon, E Marzette, J McKetney… - bioRxiv, 2024 - biorxiv.org
Tau aggregation is a hallmark of several neurodegenerative diseases, including Alzheimer's
disease and frontotemporal dementia. There are disease-causing variants of the tau …
disease and frontotemporal dementia. There are disease-causing variants of the tau …
Retiring the term FTDP-17 as MAPT mutations are genetic forms of sporadic frontotemporal tauopathies
Abstract See Josephs (doi: 10.1093/brain/awx367) for a scientific commentary on this article.
In many neurodegenerative disorders, familial forms have provided important insights into …
In many neurodegenerative disorders, familial forms have provided important insights into …
[HTML][HTML] What's in a Gene? The Outstanding Diversity of MAPT
D Ruiz-Gabarre, A Carnero-Espejo, J Ávila… - Cells, 2022 - mdpi.com
Tau protein is a microtubule-associated protein encoded by the MAPT gene that carries out
a myriad of physiological functions and has been linked to certain pathologies collectively …
a myriad of physiological functions and has been linked to certain pathologies collectively …
[HTML][HTML] Genetically engineered iPSC-derived FTDP-17 MAPT neurons display mutation-specific neurodegenerative and neurodevelopmental phenotypes
A Verheyen, A Diels, J Reumers, K Van Hoorde… - Stem cell reports, 2018 - cell.com
Tauopathies such as frontotemporal dementia (FTD) remain incurable to date, partially due
to the lack of translational in vitro disease models. The MAPT gene, encoding the …
to the lack of translational in vitro disease models. The MAPT gene, encoding the …