Varaico: Literature-Extracted Genetic Variants

Gene:RBMS3
Variant:p.A315T
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RBMS3

NM_001003793.3:p.A315T

Associated Papers

Diving deep: zebrafish models in motor neuron degeneration research.

Garg V et al.

Frontiers in Neuroscience, 2024

Pathological insights from amyotrophic lateral sclerosis animal models: comparisons, limitations, and challenges.

Zhu L et al.

Translational Neurodegeneration, 2023

Intracellular Conformation of Amyotrophic Lateral Sclerosis-Causative TDP-43.

Kitamura A et al.

International Journal of Molecular Sciences, 2023

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

Amyotrophic Lateral Sclerosis Genes in Drosophila melanogaster.

Layalle S et al.

International Journal of Molecular Sciences, 2021

Presynaptic Homeostasis Opposes Disease Progression in Mouse Models of ALS-Like Degeneration: Evidence for Homeostatic Neuroprotection.

Orr BO et al.

Neuron, 2020

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

Picher-Martel V et al.

Acta Neuropathologica Communications, 2016

ALS-linked mutations enlarge TDP-43-enriched neuronal RNA granules in the dendritic arbor.

Liu-Yesucevitz L et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2014

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

Cytoplasmic mislocalization of TDP-43 is toxic to neurons and enhanced by a mutation associated with familial amyotrophic lateral sclerosis.

Barmada SJ et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2010

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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