Varaico: Literature-Extracted Genetic Variants

Gene:SFPQ
Variant:p.N533H
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SFPQ

NM_005066.3:p.N533H

Associated Papers

Chromatin Meets Condensates: Emerging Interplays Linking Nuclear Paraspeckles to Gene Activation.

Tu CH et al.

Epigenetics Reports, 2026

Oxidative stress-induced stress granules: a central link to protein aggregation in neurodegenerative diseases.

Younas N et al.

Frontiers in Neuroscience, 2025

Familial ALS-associated SFPQ variants promote the formation of SFPQ cytoplasmic aggregates in primary neurons.

Widagdo J et al.

Open Biology, 2022

Splicing factor proline and glutamine rich intron retention, reduced expression and aggregate formation are pathological features of amyotrophic lateral sclerosis.

Hogan AL et al.

Neuropathology and Applied Neurobiology, 2021

Binding and transport of SFPQ-RNA granules by KIF5A/KLC1 motors promotes axon survival.

Fukuda Y et al.

The Journal of Cell Biology, 2021

Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development.

Thomas-Jinu S et al.

Neuron, 2017

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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."