Varaico: Literature-Extracted Genetic Variants

Gene:OPN1MW
Variant:p.P301L
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OPN1MW

NM_000513.2:p.P301L

Associated Papers

Sensitive detection and propagation of brain-derived tau assemblies in HEK293-based wild-type tau seeding assays.

Huang M et al.

The Journal of Biological Chemistry, 2025

Targeting Protein Misfolding and Aggregation as a Therapeutic Perspective in Neurodegenerative Disorders.

Sidoryk-Węgrzynowicz M et al.

International Journal of Molecular Sciences, 2024

KIBRA repairs synaptic plasticity and promotes resilience to tauopathy-related memory loss.

Kauwe G et al.

The Journal of Clinical Investigation, 2024

KIBRA repairs synaptic plasticity and promotes resilience to tauopathy-related memory loss.

Kauwe G et al.

Biorxiv : the Preprint Server for Biology, 2023

Botulinum neurotoxin A modulates the axonal release of pathological tau in hippocampal neurons.

Panzi C et al.

Toxicon : Official Journal of the International Society on Toxinology, 2023

Tau aggregates are RNA-protein assemblies that mislocalize multiple nuclear speckle components.

Lester E et al.

Neuron, 2021

Human tau pathology transmits glial tau aggregates in the absence of neuronal tau.

Narasimhan S et al.

The Journal of Experimental Medicine, 2020

Therapeutic approaches targeting Apolipoprotein E function in Alzheimer's disease.

Williams T et al.

Molecular Neurodegeneration, 2020

Apolipoprotein E and Alzheimer disease: pathobiology and targeting strategies.

Yamazaki Y et al.

Nature Reviews. Neurology, 2019

Retiring the term FTDP-17 as MAPT mutations are genetic forms of sporadic frontotemporal tauopathies.

Forrest SL et al.

Brain : a Journal of Neurology, 2018

Mitochondrial hyperpolarization in iPSC-derived neurons from patients of FTDP-17 with 10+16 MAPT mutation leads to oxidative stress and neurodegeneration.

Esteras N et al.

Redox Biology, 2017

In vivo measurement of glutamate loss is associated with synapse loss in a mouse model of tauopathy.

Crescenzi R et al.

Neuroimage, 2014

Reversibility of Tau-related cognitive defects in a regulatable FTD mouse model.

Sydow A et al.

Journal of Molecular Neuroscience : Mn, 2011

Behavior and cognition in corticobasal degeneration and progressive supranuclear palsy.

Kertesz A et al.

Journal of the Neurological Sciences, 2010

Clinicopathological and genetic correlates of frontotemporal lobar degeneration and corticobasal degeneration.

Lladó A et al.

Journal of Neurology, 2008

Frequency of tau mutations in familial and sporadic frontotemporal dementia and other tauopathies.

Stanford PM et al.

Journal of Neurology, 2004

Tau protein and neurodegeneration.

Goedert M

Seminars in Cell & Developmental Biology, 2004

Frontotemporal dementia and tauopathy.

Yoshiyama Y et al.

Current Neurology and Neuroscience Reports, 2001

Tau gene mutation K257T causes a tauopathy similar to Pick's disease.

Rizzini C et al.

Journal of Neuropathology and Experimental Neurology, 2000

Neurofibrillary tangles, amyotrophy and progressive motor disturbance in mice expressing mutant (P301L) tau protein.

Lewis J et al.

Nature Genetics, 2000

Tau Imaging in Parkinsonism: What Have We Learned So Far?

Whitwell JL

Movement Disorders Clinical Practice, 0

TBK1 interacts with tau and enhances neurodegeneration in tauopathy.

Abreha MH et al.

The Journal of Biological Chemistry, 0

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