Genetic forms of tauopathies: inherited causes and implications of Alzheimer's disease-like TAU pathology in primary and secondary tauopathies
F Langerscheidt, T Wied, MA Al Kabbani… - Journal of …, 2024 - Springer
Tauopathies are a heterogeneous group of neurologic diseases characterized by
pathological axodendritic distribution, ectopic expression, and/or phosphorylation and …
pathological axodendritic distribution, ectopic expression, and/or phosphorylation and …
Neuropathology of familial tauopathy
Y Tsuboi - Neuropathology, 2006 - Wiley Online Library
Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP‐17) is a
hereditary progressive neurodegenerative disorder. FTDP‐17 was originally defined in Ann …
hereditary progressive neurodegenerative disorder. FTDP‐17 was originally defined in Ann …
[HTML][HTML] Tau pathology in neurological disorders
The histological alterations now known as neurofibrillary tangles (NFTs) were first described
in 1906 by Alois Alzheimer using light microscopy and silver staining (1); in the late 1960's it …
in 1906 by Alois Alzheimer using light microscopy and silver staining (1); in the late 1960's it …
The role of tau (MAPT) in frontotemporal dementia and related tauopathies
R Rademakers, M Cruts… - Human mutation, 2004 - Wiley Online Library
Tau is a multifunctional protein that was originally identified as a microtubule‐associated
protein. In patients diagnosed with frontotemporal dementia and parkinsonism linked to …
protein. In patients diagnosed with frontotemporal dementia and parkinsonism linked to …
Tauopathies as clinicopathological entities
DJ Irwin - Parkinsonism & related disorders, 2016 - Elsevier
Tauopathies are a class of neurodegenerative disorders characterized by neuronal and/or
glial inclusions composed of the microtubule-binding protein, tau. Several lines of evidence …
glial inclusions composed of the microtubule-binding protein, tau. Several lines of evidence …
Tau aggregation and seeding analyses of two novel MAPT variants found in patients with motor neuron disease and progressive parkinsonism
S Nakayama, S Shimonaka, M Elahi, K Nishioka… - Neurobiology of …, 2019 - Elsevier
Variants in the microtubule-associated protein tau (MAPT) gene cause the genetic
tauopathies, a subgroup of frontotemporal dementia (FTD) disorders. Through genetic …
tauopathies, a subgroup of frontotemporal dementia (FTD) disorders. Through genetic …
[HTML][HTML] The MAPT p. A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features
Microtubule-associated protein tau (MAPT) mutations have been shown to underlie
frontotemporal dementia and a variety of additional sporadic tauopathies. We identified a …
frontotemporal dementia and a variety of additional sporadic tauopathies. We identified a …
Tau and MAPT genetics in tauopathies and synucleinopathies
MAPT encodes the microtubule-associated protein tau, which is the main component of
neurofibrillary tangles (NFTs) and found in other protein aggregates. These aggregates are …
neurofibrillary tangles (NFTs) and found in other protein aggregates. These aggregates are …
Genetic disorders with tau pathology: a review of the literature and report of two patients with tauopathy and positive family histories
P Tacik, M Sanchez-Contreras… - Neurodegenerative …, 2016 - karger.com
Background: Tauopathies are a group of neurodegenerative disorders characterized by the
pathological accumulation of hyperphosphorylated and insoluble tau protein within neurons …
pathological accumulation of hyperphosphorylated and insoluble tau protein within neurons …
Clinicopathologic assessment and imaging of tauopathies in neurodegenerative dementias
ME Murray, N Kouri, WL Lin, CR Jack… - Alzheimer's research & …, 2014 - Springer
Microtubule-associated protein tau encoded by the MAPT gene binds to microtubules and is
important for maintaining neuronal morphology and function. Alternative splicing of MAPT …
important for maintaining neuronal morphology and function. Alternative splicing of MAPT …