Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.M511fs
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FUS

NM_004960.4:p.M511fs

Associated Papers

Multiple lines of evidence for disruption of nuclear lamina and nucleoporins in FUS amyotrophic lateral sclerosis.

Okada K et al.

Brain : a Journal of Neurology, 2024

Interactions between ALS-linked FUS and nucleoporins are associated with defects in the nucleocytoplasmic transport pathway.

Lin YC et al.

Nature Neuroscience, 2021

Modeling ALS using iPSCs: is it possible to reproduce the phenotypic variations observed in patients in vitro?

Vasques JF et al.

Regenerative Medicine, 2020

Modeling cell-autonomous motor neuron phenotypes in ALS using iPSCs.

Hawrot J et al.

Neurobiology of Disease, 2020

Quantitative proteomics identifies proteins that resist translational repression and become dysregulated in ALS-FUS.

Baron DM et al.

Human Molecular Genetics, 2019

ALS-causative mutations in FUS/TLS confer gain and loss of function by altered association with SMN and U1-snRNP.

Sun S et al.

Nature Communications, 2015

FUS is sequestered in nuclear aggregates in ALS patient fibroblasts.

Schwartz JC et al.

Molecular Biology of the Cell, 2014

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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."