Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.Q331K
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GRN

NM_002087.4:p.Q331K

Associated Papers

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

Pir GJ et al.

The Febs Journal, 2026

TDP-43 dysfunction leads to impaired proteostasis and predisposes mice to worse neurological outcomes after brain injury.

Rotunno MS et al.

Biorxiv : the Preprint Server for Biology, 2025

Structural insights and milestones in TDP-43 research: A comprehensive review of its pathological and therapeutic advances.

Dang M et al.

International Journal of Biological Macromolecules, 2025

Progranulin deficiency does not exacerbate TDP-43 pathology in TDP-43 transgenic mouse models.

Yang C et al.

Npj Dementia, 2025

Synaptopathy: presynaptic convergence in frontotemporal dementia and amyotrophic lateral sclerosis.

Clayton EL et al.

Brain : a Journal of Neurology, 2024

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

Emerging Therapies and Novel Targets for TDP-43 Proteinopathy in ALS/FTD.

Hayes LR et al.

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 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

Structural Transition, Function and Dysfunction of TDP-43 in Neurodegenerative Diseases.

Afroz T et al.

Chimia, 2019

The debated toxic role of aggregated TDP-43 in amyotrophic lateral sclerosis: a resolution in sight?

Hergesheimer RC et al.

Brain : a Journal of Neurology, 2019

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

Prasad A et al.

Frontiers in Molecular Neuroscience, 2019

[Neuropathology of TDP-43 proteinopathy].

Akiyama H et al.

Brain and Nerve = Shinkei Kenkyu No Shinpo, 2013

Pathological mechanisms underlying TDP-43 driven neurodegeneration in FTLD-ALS spectrum disorders.

Janssens J et al.

Human Molecular Genetics, 2013

Amyotrophic lateral sclerosis: new insights into underlying molecular mechanisms and opportunities for therapeutic intervention.

Cozzolino M et al.

Antioxidants & Redox Signaling, 2012

Understanding the role of TDP-43 and FUS/TLS in ALS and beyond.

Da Cruz S et al.

Current Opinion in Neurobiology, 2011

Progranulin and TDP-43: mechanistic links and future directions.

Kumar-Singh S

Journal of Molecular Neuroscience : Mn, 2011

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

Fiesel FC et al.

The Febs Journal, 2011

The role of mutant TAR DNA-binding protein 43 in amyotrophic lateral sclerosis and frontotemporal lobar degeneration.

Janssens J et al.

Biochemical Society Transactions, 2011

Phosphorylated and cleaved TDP-43 in ALS, FTLD and other neurodegenerative disorders and in cellular models of TDP-43 proteinopathy.

Arai T et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2010

TAR DNA-binding protein 43 in neurodegenerative disease.

Chen-Plotkin AS et al.

Nature Reviews. Neurology, 2010

Frontotemporal dementia and amyotrophic lateral sclerosis-associated disease protein TDP-43 promotes dendritic branching.

Lu Y et al.

Molecular Brain, 2009

[Frontotemporal dementia (FTD) and genetic mutations including progranulin gene].

Arai T et al.

Rinsho Shinkeigaku = Clinical Neurology, 2008

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