Varaico: Literature-Extracted Genetic Variants

Gene:UBA52
Variant:p.K128*
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UBA52

NM_001033930.3:p.K128*

Associated Papers

Diving deep: zebrafish models in motor neuron degeneration research.

Garg V et al.

Frontiers in Neuroscience, 2024

Specific RNA interactions promote TDP-43 multivalent phase separation and maintain liquid properties.

Grese ZR et al.

Embo Reports, 2021

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

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

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

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

Cozzolino M et al.

Antioxidants & Redox Signaling, 2012

Pathogenic TARDBP mutations in amyotrophic lateral sclerosis and frontotemporal dementia: disease-associated pathways.

Barmada SJ et al.

Reviews in the Neurosciences, 2010

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.

Kabashi E et al.

Nature Genetics, 2008

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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."