Varaico: Literature-Extracted Genetic Variants

Gene:SNCA
Variant:p.E105D
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SNCA

NM_000345.4:p.E105D

Associated Papers

Unraveling the Genetic Landscape of Neurological Disorders: Insights into Pathogenesis, Techniques for Variant Identification, and Therapeutic Approaches.

Firdaus Z et al.

International Journal of Molecular Sciences, 2024

Endoplasmic Reticulum Stress and Unfolded Protein Response in Neurodegenerative Diseases.

Ghemrawi R et al.

International Journal of Molecular Sciences, 2020

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

The roles of intrinsic disorder-based liquid-liquid phase transitions in the "Dr. Jekyll-Mr. Hyde" behavior of proteins involved in amyotrophic lateral sclerosis and frontotemporal lobar degeneration.

Uversky VN

Autophagy, 2017

Similar dose-dependence of motor neuron cell death caused by wild type human TDP-43 and mutants with ALS-associated amino acid substitutions.

Wu LS et al.

Journal of Biomedical Science, 2013

Drosophila Answers to TDP-43 Proteinopathies.

Romano M et al.

Journal of Amino Acids, 2012

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

Barmada SJ et al.

Reviews in the Neurosciences, 2010

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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."