Varaico: Literature-Extracted Genetic Variants

Gene:METTL8
Variant:p.P301L
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METTL8

NM_001321154.2:p.P301L

Associated Papers

4R-tau isoform induction via TDP-43 in neurons in response to insulin: converging signaling pathways with implications for neurodegenerative disease.

Weissmann C et al.

Acta Neuropathologica Communications, 2025

Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia.

Miedema SSM et al.

Acta Neuropathologica Communications, 2022

Globular glial tauopathy with a mutation in MAPT and unusual TDP-43 proteinopathy in a patient with behavioural-variant frontotemporal dementia.

Forrest SL et al.

Acta Neuropathologica, 2021

Colocalization of BRCA1 with Tau Aggregates in Human Tauopathies.

Kurihara M et al.

Brain Sciences, 2019

Calpain-mediated tau fragmentation is altered in Alzheimer's disease progression.

Chen HH et al.

Scientific Reports, 2018

Tau pathology is present in vivo and develops in vitro in sensory neurons from human P301S tau transgenic mice: a system for screening drugs against tauopathies.

Mellone M et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2013

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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."