Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.H517P
Back to variants list

FUS

NM_004960.4:p.H517P

Associated Papers

Increased expression of human antiviral protein MxA in FUS proteinopathy in amyotrophic lateral sclerosis.

Honda H et al.

Brain Pathology (zurich, Switzerland), 2024

Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy.

Suzuki N et al.

Journal of Human Genetics, 2023

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

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

Chen C et al.

Molecules (basel, Switzerland), 2019

Comparison of the clinical and cognitive features of genetically positive ALS patients from the largest tertiary center in Serbia.

Marjanović IV et al.

Journal of Neurology, 2017

Genotype-phenotype relationships in familial amyotrophic lateral sclerosis with FUS/TLS mutations in Japan.

Akiyama T et al.

Muscle & Nerve, 2016

FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusion.

Suzuki N et al.

Journal of Human Genetics, 2015

Interaction of FUS and HDAC1 regulates DNA damage response and repair in neurons.

Wang WY et al.

Nature Neuroscience, 2013

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

Intracellular localization and splicing regulation of FUS/TLS are variably affected by amyotrophic lateral sclerosis-linked mutations.

Kino Y et al.

Nucleic Acids Research, 2011

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

Lagier-Tourenne C et al.

Human Molecular Genetics, 2010

FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusion.

Suzuki N et al.

Journal of Human Genetics, 2010

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."