Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.G172A
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FUS

NM_004960.4:p.G172A

Associated Papers

Phase separation and pathologic transitions of RNP condensates in neurons: implications for amyotrophic lateral sclerosis, frontotemporal dementia and other neurodegenerative disorders.

Naskar A et al.

Frontiers in Molecular Neuroscience, 2023

Proteostasis impairment and ALS.

Lambert-Smith IA et al.

Progress in Biophysics and Molecular Biology, 2022

A de novo c.1509dupA:p.R503fs mutation of FUS: report of a girl with sporadic juvenile amyotrophic lateral sclerosis.

Chen L et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2020

The Occurrence of FUS Mutations in Pediatric Amyotrophic Lateral Sclerosis: A Case Report and Review of the Literature.

Picher-Martel V et al.

Journal of Child Neurology, 2020

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

Chen C et al.

Molecules (basel, Switzerland), 2019

Delineating the relationship between amyotrophic lateral sclerosis and frontotemporal dementia: Sequence and structure-based predictions.

Kumar V et al.

Biochimica Et Biophysica Acta, 2016

Emerging mechanisms of molecular pathology in ALS.

Peters OM et al.

The Journal of Clinical Investigation, 2015

The role of FUS gene variants in neurodegenerative diseases.

Deng H et al.

Nature Reviews. Neurology, 2014

Stress granules in neurodegeneration--lessons learnt from TAR DNA binding protein of 43 kDa and fused in sarcoma.

Bentmann E et al.

The Febs Journal, 2013

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

Lattante S et al.

Human Mutation, 2013

Arginine methylation next to the PY-NLS modulates Transportin binding and nuclear import of FUS.

Dormann D et al.

The Embo Journal, 2012

FUS-related proteinopathies: lessons from animal models.

Lanson NA et al.

Brain Research, 2012

FUS-NLS/Transportin 1 complex structure provides insights into the nuclear targeting mechanism of FUS and the implications in ALS.

Niu C et al.

Plos One, 2012

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

Sun Z et al.

Plos Biology, 2011

Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules.

Bosco DA et al.

Human Molecular Genetics, 2010

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

Dormann D et al.

The Embo Journal, 2010

De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis.

DeJesus-Hernandez M et al.

Human Mutation, 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

RNA-binding proteins in neurodegenerative disease: TDP-43 and beyond.

Hanson KA et al.

Wiley Interdisciplinary Reviews. Rna, 0

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