Varaico: Literature-Extracted Genetic Variants

Gene:SMG6
Variant:p.D1353A
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SMG6

NM_017575.5:p.D1353A

Associated Papers

Active site assembly by SMG5 as a mechanism for SMG6 endonuclease licensing in nonsense-mediated mRNA decay.

Arpa ES et al.

Journal of Molecular Biology, 2026

Composite SMG5-SMG6 PIN domain formation is essential for NMD.

Kurscheidt K et al.

Nature Communications, 2026

Structure of the Nmd4-Upf1 complex supports conservation of the nonsense-mediated mRNA decay pathway between yeast and humans.

Barbarin-Bocahu I et al.

Plos Biology, 2024

Coupled protein quality control during nonsense-mediated mRNA decay.

Inglis AJ et al.

Journal of Cell Science, 2023

Treatment of type 1 myotonic dystrophy by engineering site-specific RNA endonucleases that target (CUG)(n) repeats.

Zhang W et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2014

SMG6 promotes endonucleolytic cleavage of nonsense mRNA in human cells.

Eberle AB et al.

Nature Structural & Molecular Biology, 2009

Structures of the PIN domains of SMG6 and SMG5 reveal a nuclease within the mRNA surveillance complex.

Glavan F et al.

The Embo Journal, 2006

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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."