scholarly journals Generation of an isogenic, gene-corrected iPSC line from a symptomatic 57-year-old female patient with frontotemporal dementia caused by a P301L mutation in the microtubule associated protein tau (MAPT) gene

2016 ◽  
Vol 17 (3) ◽  
pp. 556-559 ◽  
Author(s):  
Natakarn Nimsanor ◽  
Narisorn Kitiyanant ◽  
Ulla Poulsen ◽  
Mikkel A. Rasmussen ◽  
Christian Clausen ◽  
...  
Keyword(s):  
Frontotemporal Dementia ◽  
Female Patient ◽  
Ipsc Line ◽  
Protein Tau ◽  
Microtubule Associated Protein Tau ◽  
Mapt Gene ◽  
P301l Mutation

scholarly journals Generation of an isogenic, gene-corrected iPSC line from a pre-symptomatic 28-year-old woman with an R406W mutation in the microtubule associated protein tau (MAPT) gene

2016 ◽  
Vol 17 (3) ◽  
pp. 600-602 ◽  
Author(s):  
Natakarn Nimsanor ◽  
Ulla Poulsen ◽  
Mikkel A. Rasmussen ◽  
Christian Clausen ◽  
Ulrike A. Mau-Holzmann ◽  
...  
Keyword(s):  
Ipsc Line ◽  
Protein Tau ◽  
Microtubule Associated Protein Tau ◽  
Mapt Gene

scholarly journals Invited review: Frontotemporal dementia caused by microtubule‐associated protein tau gene ( MAPT ) mutations: a chameleon for neuropathology and neuroimaging

2015 ◽  
Vol 41 (1) ◽  
pp. 24-46 ◽  
Author(s):  
Bernardino Ghetti ◽  
Adrian L. Oblak ◽  
Bradley F. Boeve ◽  
Keith A. Johnson ◽  
Bradford C. Dickerson ◽  
...  
Keyword(s):  
Frontotemporal Dementia ◽  
Protein Tau ◽  
Microtubule Associated Protein Tau

scholarly journals From genetics to pathology: tau and a–synuclein assemblies in neurodegenerative diseases

2001 ◽  
Vol 356 (1406) ◽  
pp. 213-227 ◽  
Author(s):  
Michel Goedert ◽  
Maria Grazia Spillantini ◽  
Louise C. Serpell ◽  
John Berriman ◽  
Michael J. Smith ◽  
...  
Keyword(s):  
Human Brain ◽  
Neurodegenerative Diseases ◽  
Frontotemporal Dementia ◽  
Glial Cells ◽  
Tau Protein ◽  
Nerve Cells ◽  
Degenerative Diseases ◽  
Protein Tau ◽  
Microtubule Associated Protein Tau ◽  
Filamentous Inclusions

The most common degenerative diseases of the human brain are characterized by the presence of abnormal filamentous inclusions in affected nerve cells and glial cells. These diseases can be grouped into two classes, based on the identity of the major proteinaceous components of the filamentous assemblies. The filaments are made of either the microtubule–associated protein tau or the protein α–synuclein. Importantly, the discovery of mutations in the tau gene in familial forms of frontotemporal dementia and of mutations in the α–synuclein gene in familial forms of Parkinson's disease has established that dysfunction of tau protein and α–synuclein can cause neurodegeneration.

scholarly journals DrosophilaModels of Tauopathies: What Have We Learned?

2012 ◽  
Vol 2012 ◽  
pp. 1-14 ◽  
Author(s):  
Marc Gistelinck ◽  
Jean-Charles Lambert ◽  
Patrick Callaerts ◽  
Bart Dermaut ◽  
Pierre Dourlen
Keyword(s):  
Frontotemporal Dementia ◽  
High Throughput ◽  
Neurodegenerative Disorders ◽  
Genetic Model ◽  
Model Organism ◽  
Molecular Pathways ◽  
Protein Tau ◽  
Microtubule Associated Protein Tau ◽  
The Past ◽  
Genome Wide

Aggregates of the microtubule-associated protein Tau are neuropathological hallmark lesions in Alzheimer's disease (AD) and related primary tauopathies. In addition, Tau is genetically implicated in a number of human neurodegenerative disorders including frontotemporal dementia (FTD) and Parkinson's disease (PD). The exact mechanism by which Tau exerts its neurotoxicity is incompletely understood. Here, we give an overview of how studies using the genetic model organismDrosophilaover the past decade have contributed to the molecular understanding of Tau neurotoxicity. We compare the different available readouts for Tau neurotoxicity in flies and review the molecular pathways in which Tau has been implicated. Finally, we emphasize that the integration of genome-wide approaches in human or mice with high-throughput genetic validation inDrosophilais a fruitful approach.

A unique common ancestor introduced P301L mutation in MAPT gene in frontotemporal dementia patients from Barcelona (Baix Llobregat, Spain)

2019 ◽  
Vol 84 ◽  
pp. 236.e9-236.e15 ◽  
Author(s):  
Leire Palencia-Madrid ◽  
Raquel Sánchez-Valle ◽  
Ierai Fernández de Retana ◽  
Sergi Borrego ◽  
Oriol Grau-Rivera ◽  
...  
Keyword(s):  
Frontotemporal Dementia ◽  
Common Ancestor ◽  
Dementia Patients ◽  
Mapt Gene ◽  
P301l Mutation
Sign in / Sign up

Export Citation Format

Share Document