Varaico: Literature-Extracted Genetic Variants

Gene:TAF15
Variant:p.R408C
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TAF15

NM_139215.3:p.R408C

Associated Papers

Proteostasis impairment and ALS.

Lambert-Smith IA et al.

Progress in Biophysics and Molecular Biology, 2022

Stress granule subtypes: an emerging link to neurodegeneration.

Advani VM et al.

Cellular and Molecular Life Sciences : Cmls, 2020

The clinical and radiological profile of primary lateral sclerosis: a population-based study.

Finegan E et al.

Journal of Neurology, 2019

EWSR1, a multifunctional protein, regulates cellular function and aging via genetic and epigenetic pathways.

Lee J et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2019

ALS Genes in the Genomic Era and their Implications for FTD.

Nguyen HP et al.

Trends in Genetics : Tig, 2018

Nuclear-Import Receptors Reverse Aberrant Phase Transitions of RNA-Binding Proteins with Prion-like Domains.

Guo L et al.

Cell, 2018

Genetic mutations in RNA-binding proteins and their roles in ALS.

Kapeli K et al.

Human Genetics, 2017

Aggregation of FET Proteins as a Pathological Change in Amyotrophic Lateral Sclerosis.

Furukawa Y et al.

Advances in Experimental Medicine and Biology, 2017

Role of FET proteins in neurodegenerative disorders.

Svetoni F et al.

Rna Biology, 2016

Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD).

Lattante S et al.

Trends in Genetics : Tig, 2015

Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes.

Cady J et al.

Annals of Neurology, 2015

Identification of in vivo, conserved, TAF15 RNA binding sites reveals the impact of TAF15 on the neuronal transcriptome.

Ibrahim F et al.

Cell Reports, 2013

The tip of the iceberg: RNA-binding proteins with prion-like domains in neurodegenerative disease.

King OD et al.

Brain Research, 2012

RNA-Binding Proteins in Amyotrophic Lateral Sclerosis and Neurodegeneration.

Ugras SE et al.

Neurology Research International, 2012

A yeast functional screen predicts new candidate ALS disease genes.

Couthouis J et al.

Proceedings of the National Academy of Sciences of the United States of America, 2011

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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."