Varaico: Literature-Extracted Genetic Variants

Gene:NEMF
Variant:p.R86S
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NEMF

NM_004713.6:p.R86S

Associated Papers

Nuclear Import Defects Drive Cell Cycle Dysregulation in Neurodegeneration.

Plessis-Belair J et al.

Aging Cell, 2025

NEMF mutations in mice illustrate how Importin-β specific nuclear transport defects recapitulate neurodegenerative disease hallmarks.

Plessis-Belair J et al.

Plos Genetics, 2024

Poly-alanine-tailing is a modifier of neurodegeneration caused by Listerin mutation.

Hung HC et al.

Biorxiv : the Preprint Server for Biology, 2024

Ribosomal quality control factors inhibit repeat-associated non-AUG translation from GC-rich repeats.

Tseng YJ et al.

Nucleic Acids Research, 2024

Transcriptional profile of ribosome-associated quality control components and their associated phenotypes in mammalian cells.

Dos Santos OAL et al.

Scientific Reports, 2024

Translation dysregulation in neurodegenerative diseases: a focus on ALS.

Wang S et al.

Molecular Neurodegeneration, 2023

Ribosomal quality control factors inhibit repeat-associated non-AUG translation from GC-rich repeats.

Tseng YJ et al.

Biorxiv : the Preprint Server for Biology, 2023

Ribosome-associated quality control and CAT tailing.

Howard CJ et al.

Critical Reviews in Biochemistry and Molecular Biology, 2021

LISTERIN E3 Ubiquitin Ligase and Ribosome-Associated Quality Control (RQC) Mechanism.

Mishra R et al.

Molecular Neurobiology, 2021

NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease.

Martin PB et al.

Nature Communications, 2020

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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."