Varaico: Literature-Extracted Genetic Variants

Gene:SAMHD1
Variant:p.D311A
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SAMHD1

NM_015474.4:p.D311A

Associated Papers

Aicardi-Goutières Syndrome caused by SAMHD1 mutation: Pathogenesis and Beyond.

Li Y et al.

Clinical Immunology (orlando, Fla.), 2026

SAMHD1 shapes deoxynucleotide triphosphate homeostasis by interconnecting the depletion and biosynthesis of different dNTPs.

McCown C et al.

Nature Communications, 2025

Acetylation of SAMHD1 at lysine 580 is crucial for blocking HIV-1 infection.

Bulnes-Ramos A et al.

Mbio, 2024

Allosteric substrate activation of SAMHD1 shapes deoxynucleotide triphosphate imbalances by interconnecting the depletion and biosynthesis of different dNTPs.

McCown C et al.

Biorxiv : the Preprint Server for Biology, 2023

Gene editing of SAMHD1 in macrophage-like cells reveals complex relationships between SAMHD1 phospho-regulation, HIV-1 restriction and cellular dNTP levels.

Schüssler M et al.

Biorxiv : the Preprint Server for Biology, 2023

SAMHD1 in cancer: curse or cure?

Schott K et al.

Journal of Molecular Medicine (berlin, Germany), 2022

Structural and functional characterization explains loss of dNTPase activity of the cancer-specific R366C/H mutant SAMHD1 proteins.

Bowen NE et al.

The Journal of Biological Chemistry, 2021

Nucleic acid binding by SAMHD1 contributes to the antiretroviral activity and is enhanced by the GpsN modification.

Yu CH et al.

Nature Communications, 2021

SAMHD1-mediated dNTP degradation is required for efficient DNA repair during antibody class switch recombination.

Husain A et al.

The Embo Journal, 2020

Defective modulation of LINE-1 retrotransposition by cancer-associated SAMHD1 mutants.

Gao W et al.

Biochemical and Biophysical Research Communications, 2019

The missing link: allostery and catalysis in the anti-viral protein SAMHD1.

Morris ER et al.

Biochemical Society Transactions, 2019

Functionality of Redox-Active Cysteines Is Required for Restriction of Retroviral Replication by SAMHD1.

Wang Z et al.

Cell Reports, 2018

SAMHD1 protects cancer cells from various nucleoside-based antimetabolites.

Herold N et al.

Cell Cycle (georgetown, Tex.), 2017

A SAMHD1 mutation associated with Aicardi-Goutières syndrome uncouples the ability of SAMHD1 to restrict HIV-1 from its ability to downmodulate type I interferon in humans.

White TE et al.

Human Mutation, 2017

Effects of T592 phosphomimetic mutations on tetramer stability and dNTPase activity of SAMHD1 can not explain the retroviral restriction defect.

Bhattacharya A et al.

Scientific Reports, 2016

Restrictive influence of SAMHD1 on Hepatitis B Virus life cycle.

Sommer AF et al.

Scientific Reports, 2016

The ribonuclease activity of SAMHD1 is required for HIV-1 restriction.

Ryoo J et al.

Nature Medicine, 2014

Modulation of LINE-1 and Alu/SVA retrotransposition by Aicardi-Goutières syndrome-related SAMHD1.

Zhao K et al.

Cell Reports, 2013

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