Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.V98V
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SOD1

NM_000454.5:p.V98V

Associated Papers

TDP-43 proteinopathies and neurodegeneration: insights from Caenorhabditis elegans models.

Pir GJ et al.

The Febs Journal, 2026

Molecular Mechanisms of Protein Aggregation in ALS-FTD: Focus on TDP-43 and Cellular Protective Responses.

Verde EM et al.

Cells, 2025

TDP-43 as a therapeutic target in neurodegenerative diseases: Focusing on motor neuron disease and frontotemporal dementia.

Babazadeh A et al.

Ageing Research Reviews, 2023

Integrated Omic Analysis Delineates Pathways Modulating Toxic TDP-43 Protein Aggregates in Amyotrophic Lateral Sclerosis.

Rajaratnam S et al.

Cells, 2023

Genotype-phenotype association of TARDBP mutations in Chinese patients with amyotrophic lateral sclerosis: a single-center study and systematic review of published literature.

Li J et al.

Journal of Neurology, 2022

Molecular Mechanisms Underlying TDP-43 Pathology in Cellular and Animal Models of ALS and FTLD.

Wood A et al.

International Journal of Molecular Sciences, 2021

Pathogenic Genome Signatures That Damage Motor Neurons in Amyotrophic Lateral Sclerosis.

Yousefian-Jazi A et al.

Cells, 2020

Common mutations of interest in the diagnosis of amyotrophic lateral sclerosis: how common are common mutations in ALS genes?

Perrone B et al.

Expert Review of Molecular Diagnostics, 2020

Molecular Mechanisms of TDP-43 Misfolding and Pathology in Amyotrophic Lateral Sclerosis.

Prasad A et al.

Frontiers in Molecular Neuroscience, 2019

TDP-43 post-translational modifications in health and disease.

Buratti E

Expert Opinion on Therapeutic Targets, 2018

Biological Spectrum of Amyotrophic Lateral Sclerosis Prions.

Polymenidou M et al.

Cold Spring Harbor Perspectives in Medicine, 2017

Review: Prion-like mechanisms of transactive response DNA binding protein of 43 kDa (TDP-43) in amyotrophic lateral sclerosis (ALS).

Smethurst P et al.

Neuropathology and Applied Neurobiology, 2015

Emerging mechanisms of molecular pathology in ALS.

Peters OM et al.

The Journal of Clinical Investigation, 2015

TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: summary and update.

Lattante S et al.

Human Mutation, 2013

Accelerated disease onset with stabilized familial amyotrophic lateral sclerosis (ALS)-linked mutant TDP-43 proteins.

Watanabe S et al.

The Journal of Biological Chemistry, 2013

TDP-43 and FUS/TLS: cellular functions and implications for neurodegeneration.

Fiesel FC et al.

The Febs Journal, 2011

TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration.

Lagier-Tourenne C et al.

Human Molecular Genetics, 2010

TAR DNA-binding protein 43 in neurodegenerative disease.

Chen-Plotkin AS et al.

Nature Reviews. Neurology, 2010

Amyotrophic lateral sclerosis.

Perry JJ et al.

Advances in Experimental Medicine and Biology, 2010

A novel TARDBP mutation in an Australian amyotrophic lateral sclerosis kindred.

Williams KL et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2009

Rethinking ALS: the FUS about TDP-43.

Lagier-Tourenne C et al.

Cell, 2009

TDP-43 in neurodegenerative disorders.

Cook C et al.

Expert Opinion on Biological Therapy, 2008

TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis.

Guerreiro RJ et al.

Plos One, 2008

RNA-binding proteins in neurodegenerative disease: TDP-43 and beyond.

Hanson KA et al.

Wiley Interdisciplinary Reviews. Rna, 0

TDP-43/FUS in motor neuron disease: Complexity and challenges.

Guerrero EN et al.

Progress in Neurobiology, 0

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