Varaico: Literature-Extracted Genetic Variants

Gene:OPTN
Variant:p.Q331K
Back to variants list

OPTN

NM_001008212.2:p.Q331K

Associated Papers

From Evasion to Collapse: The Kinetic Cascade of TDP-43 and the Failure of Proteostasis.

Jamerlan A et al.

International Journal of Molecular Sciences, 2026

Axonopathy Underlying Amyotrophic Lateral Sclerosis: Unraveling Complex Pathways and Therapeutic Insights.

Luan T et al.

Neuroscience Bulletin, 2024

NRF2 signaling cascade in amyotrophic lateral sclerosis: bridging the gap between promise and reality.

Tarot P et al.

Neural Regeneration Research, 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

Modelling amyotrophic lateral sclerosis in rodents.

Todd TW et al.

Nature Reviews. Neuroscience, 2022

Disrupted neuronal trafficking in amyotrophic lateral sclerosis.

Burk K et al.

Acta Neuropathologica, 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

From animal models to human disease: a genetic approach for personalized medicine in ALS.

Picher-Martel V et al.

Acta Neuropathologica Communications, 2016

Rodent Models of Amyotrophic Lateral Sclerosis.

Philips T et al.

Current Protocols in Pharmacology, 2015

Emerging mechanisms of molecular pathology in ALS.

Peters OM et al.

The Journal of Clinical Investigation, 2015

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

Janssens J et al.

Human Molecular Genetics, 2013

Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis.

Ling SC et al.

Neuron, 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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."