Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.R524T
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FUS

NM_004960.4:p.R524T

Associated Papers

Mutated FUS in familial amyotrophic lateral sclerosis involves multiple hnRNPs in the formation of neuronal cytoplasmic inclusions.

Honda H et al.

Journal of Neuropathology and Experimental Neurology, 2023

Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.

McCann EP et al.

Journal of Neuromuscular Diseases, 2023

37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list

Proteostasis impairment and ALS.

Lambert-Smith IA et al.

Progress in Biophysics and Molecular Biology, 2022

Antiviral Immune Response as a Trigger of FUS Proteinopathy in Amyotrophic Lateral Sclerosis.

Shelkovnikova TA et al.

Cell Reports, 2019

Fused in Sarcoma: Properties, Self-Assembly and Correlation with Neurodegenerative Diseases.

Chen C et al.

Molecules (basel, Switzerland), 2019

ALS-linked FUS mutations confer loss and gain of function in the nucleus by promoting excessive formation of dysfunctional paraspeckles.

An H et al.

Acta Neuropathologica Communications, 2019

Emerging mechanisms of molecular pathology in ALS.

Peters OM et al.

The Journal of Clinical Investigation, 2015

Multistep process of FUS aggregation in the cell cytoplasm involves RNA-dependent and RNA-independent mechanisms.

Shelkovnikova TA et al.

Human Molecular Genetics, 2014

ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules.

Vance C et al.

Human Molecular Genetics, 2013

TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: summary and update.

Lattante S et al.

Human Mutation, 2013

FUS-related proteinopathies: lessons from animal models.

Lanson NA et al.

Brain Research, 2012

TDP-43 and FUS/TLS: cellular functions and implications for neurodegeneration.

Fiesel FC et al.

The Febs Journal, 2011

Molecular determinants and genetic modifiers of aggregation and toxicity for the ALS disease protein FUS/TLS.

Sun Z et al.

Plos Biology, 2011

ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import.

Dormann D et al.

The Embo Journal, 2010

TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration.

Lagier-Tourenne C et al.

Human Molecular Genetics, 2010

Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort.

Ticozzi N et al.

Neurology, 2009

Rethinking ALS: the FUS about TDP-43.

Lagier-Tourenne C et al.

Cell, 2009

FUS gene mutations associated with familiar forms of amyotrophic lateral sclerosis affect cellular localization and aggregation properties of the encoded protein.

Shelkovnikova TA et al.

Doklady. Biochemistry and Biophysics, 0

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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."