Varaico: Literature-Extracted Genetic Variants

Gene:OPTN
Variant:p.G116G
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OPTN

NM_001008212.2:p.G116G

Associated Papers

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

The converging roles of sequestosome-1/p62 in the molecular pathways of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).

Davidson JM et al.

Neurobiology of Disease, 2022

Autophagy and ALS: mechanistic insights and therapeutic implications.

Chua JP et al.

Autophagy, 2022

Disrupted neuronal trafficking in amyotrophic lateral sclerosis.

Burk K et al.

Acta Neuropathologica, 2019

Rodent Models of Amyotrophic Lateral Sclerosis.

Philips T et al.

Current Protocols in Pharmacology, 2015

RNA metabolism in ALS: when normal processes become pathological.

Droppelmann CA et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2014

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

Guerrero EN et al.

Progress in Neurobiology, 0

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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."