Varaico: Literature-Extracted Genetic Variants

Gene:HNRNPA1
Variant:p.K105N
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HNRNPA1

NM_031157.4:p.K105N

Associated Papers

TDP-43 protein interactome informs about perturbed canonical pathways and may help develop personalized medicine approaches for patients with TDP-43 pathology.

Helmold BR et al.

Drug Discovery Today, 2023

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

Kitamura A et al.

International Journal of Molecular Sciences, 2023

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

Grese ZR et al.

Embo Reports, 2021

Amyotrophic Lateral Sclerosis Genes in Drosophila melanogaster.

Layalle S et al.

International Journal of Molecular Sciences, 2021

A Systematic and Comprehensive Review on Disease-Causing Genes in Amyotrophic Lateral Sclerosis.

Srinivasan E et al.

Journal of Molecular Neuroscience : Mn, 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

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

Picher-Martel V et al.

Acta Neuropathologica Communications, 2016

Clinical and genetic basis of familial amyotrophic lateral sclerosis.

Souza PV et al.

Arquivos De Neuro-psiquiatria, 2015

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

Global analysis of TDP-43 interacting proteins reveals strong association with RNA splicing and translation machinery.

Freibaum BD et al.

Journal of Proteome Research, 2010

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