Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.Y526F
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FUS

NM_004960.4:p.Y526F

Associated Papers

Single-cell RNA-sequencing reveals early mitochondrial dysfunction unique to motor neurons shared across FUS- and TARDBP-ALS.

Schweingruber C et al.

Nature Communications, 2025

40389397 (PubMed )
Supplement: 41467_2025_59679_MOESM1_ESM.pdf

A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.

Arreola-Aldape CA et al.

Frontiers in Neuroscience, 2025

40589786 (PubMed )
Supplement: Table_1.xlsx › Hoja_1

Abl kinase-mediated FUS Tyr526 phosphorylation alters nucleocytoplasmic FUS localization in FTLD-FUS.

Motaln H et al.

Brain : a Journal of 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 › references

FUS mutations in Asian amyotrophic lateral sclerosis patients: a case report and literature review of genotype-phenotype correlations.

Lu T et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2022

35232295 (PubMed )
Supplement: supplement_1.docx

FUS as a cause of familial Amyotrophic lateral sclerosis, a case report in a pregnant patient.

Bazán-Rodríguez L et al.

Neurocase, 2022

Novel FUS mutation Y526F causing rapidly progressive familial amyotrophic lateral sclerosis.

Zou ZY et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2021

Modelling FUS Mislocalisation in an In Vitro Model of Innervated Human Muscle.

Prpar Mihevc S et al.

Journal of Molecular Neuroscience : Mn, 2017

Phosphorylation of C-terminal tyrosine residue 526 in FUS impairs its nuclear import.

Darovic S et al.

Journal of Cell Science, 2015

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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."