Varaico: Literature-Extracted Genetic Variants

Gene:TARDBP
Variant:p.S305N
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TARDBP

NM_007375.4:p.S305N

Associated Papers

Distinct tau filament folds in familial frontotemporal dementia due to the MAPT S305I mutation.

Pan HS et al.

Biorxiv : the Preprint Server for Biology, 2026

Mutations in α-synuclein, TDP-43 and tau prolong protein half-life through diminished degradation by lysosomal proteases.

Sampognaro PJ et al.

Molecular Neurodegeneration, 2023

37131250 (PubMed )
Supplement: 13024_2023_621_MOESM1_ESM.pdf

Imaging Biomarkers for Neurodegeneration in Presymptomatic Familial Frontotemporal Lobar Degeneration.

Chen Q et al.

Frontiers in Neurology, 2020

FTD spectrum: Neuroimaging across the FTD spectrum.

Whitwell JL

Progress in Molecular Biology and Translational Science, 2019

In vivo 18F-AV-1451 tau PET signal in MAPT mutation carriers varies by expected tau isoforms.

Jones DT et al.

Neurology, 2018

Assessment of Olfactory Function in MAPT-Associated Neurodegenerative Disease Reveals Odor-Identification Irreproducibility as a Non-Disease-Specific, General Characteristic of Olfactory Dysfunction.

Markopoulou K et al.

Plos One, 2016

Presymptomatic cerebral blood flow changes in CHMP2B mutation carriers of familial frontotemporal dementia (FTD-3), measured with MRI.

Lunau L et al.

Bmj Open, 2012

MAPT S305I mutation: implications for argyrophilic grain disease.

Kovacs GG et al.

Acta Neuropathologica, 2008

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."