Varaico: Literature-Extracted Genetic Variants

Gene:AR
Variant:p.S792A
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AR

NM_000044.6:p.S792A

Associated Papers

LSD1/PRMT6-targeting gene therapy to attenuate androgen receptor toxic gain-of-function ameliorates spinobulbar muscular atrophy phenotypes in flies and mice.

Prakasam R et al.

Nature Communications, 2023

Exploring the Role of Posttranslational Modifications in Spinal and Bulbar Muscular Atrophy.

Gogia N et al.

Frontiers in Molecular Neuroscience, 2022

Protein arginine methyltransferase 6 enhances polyglutamine-expanded androgen receptor function and toxicity in spinal and bulbar muscular atrophy.

Scaramuzzino C et al.

Neuron, 2015

Overexpression of IGF-1 in muscle attenuates disease in a mouse model of spinal and bulbar muscular atrophy.

Palazzolo I et al.

Neuron, 2009

Akt blocks ligand binding and protects against expanded polyglutamine androgen receptor toxicity.

Palazzolo I et al.

Human Molecular Genetics, 2007

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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."