Varaico: Literature-Extracted Genetic Variants

Gene:RRM1
Variant:p.I105I
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RRM1

NM_001033.5:p.I105I

Associated Papers

Targeting 14-3-3θ-mediated TDP-43 pathology in amyotrophic lateral sclerosis and frontotemporal dementia mice.

Ke YD et al.

Neuron, 2024

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

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

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

TDP-43 post-translational modifications in health and disease.

Buratti E

Expert Opinion on Therapeutic Targets, 2018

Structural analysis of disease-related TDP-43 D169G mutation: linking enhanced stability and caspase cleavage efficiency to protein accumulation.

Chiang CH et al.

Scientific Reports, 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

Aberrant assembly of RNA recognition motif 1 links to pathogenic conversion of TAR DNA-binding protein of 43 kDa (TDP-43).

Shodai A et al.

The Journal of Biological Chemistry, 2013

Motor neurons and glia exhibit specific individualized responses to TDP-43 expression in a Drosophila model of amyotrophic lateral sclerosis.

Estes PS et al.

Disease Models & Mechanisms, 2013

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

Drosophila Answers to TDP-43 Proteinopathies.

Romano M et al.

Journal of Amino Acids, 2012

The role of mutant TAR DNA-binding protein 43 in amyotrophic lateral sclerosis and frontotemporal lobar degeneration.

Janssens J et al.

Biochemical Society Transactions, 2011

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

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."