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• W4281704206 abstract "Spinal and Bulbar Muscular Atrophy (SBMA) is an X-linked adult-onset progressive neuromuscular disease that affects the spinal and bulbar motor neurons and skeletal muscles. SBMA is caused by expansion of polymorphic CAG trinucleotide repeats in the Androgen Receptor ( AR ) gene, resulting in expanded glutamine tract in the AR protein. Polyglutamine (polyQ) expansion renders the mutant AR protein toxic, resulting in the formation of mutant protein aggregates and cell death. This classifies SBMA as one of the nine known polyQ diseases. Like other polyQ disorders, the expansion of the polyQ tract in the AR protein is the main genetic cause of the disease; however, multiple other mechanisms besides the polyQ tract expansion also contribute to the SBMA disease pathophysiology. Posttranslational modifications (PTMs), including phosphorylation, acetylation, methylation, ubiquitination, and SUMOylation are a category of mechanisms by which the functionality of AR has been found to be significantly modulated and can alter the neurotoxicity of SBMA. This review summarizes the different PTMs and their effects in regulating the AR function and discusses their pathogenic or protective roles in context of SBMA. This review also includes the therapeutic approaches that target the PTMs of AR in an effort to reduce the mutant AR-mediated toxicity in SBMA." @default.
• W4281704206 created "2022-06-13" @default.
• W4281704206 creator A5003839686 @default.
• W4281704206 creator A5004563589 @default.
• W4281704206 creator A5016246976 @default.
• W4281704206 creator A5036349570 @default.
• W4281704206 creator A5052296968 @default.
• W4281704206 creator A5057037279 @default.
• W4281704206 date "2022-06-03" @default.
• W4281704206 modified "2023-10-07" @default.
• W4281704206 title "Exploring the Role of Posttranslational Modifications in Spinal and Bulbar Muscular Atrophy" @default.
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