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- W3048944574 abstract "The aim of this study was to illustrate the current understanding and avenues for developing treatment in spinal and bulbar muscular atrophy (SBMA), an inherited neuromuscular disorder caused by a CAG trinucleotide repeat expansion in the androgen receptor (AR) gene.Important advances have been made in characterizing the molecular mechanism of the disease, including the disruption of protein homeostasis, intracellular trafficking and signalling pathways. Biomarkers such as MRI quantification of muscle volume and fat fraction have been used to track disease progression, and will be useful in future clinical studies. Therapies tested and under development have been based on diverse strategies, including targeting mutant AR gene expression, stability and activity, and pathways that mitigate disease toxicity.We provide an overview of the recent advances in understanding the SBMA disease mechanism and highlight efforts to translate these insights into well tolerated and effective therapy." @default.
- W3048944574 created "2020-08-18" @default.
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- W3048944574 date "2020-08-19" @default.
- W3048944574 modified "2023-10-02" @default.
- W3048944574 title "Molecular pathogenesis of spinal bulbar muscular atrophy (Kennedy's disease) and avenues for treatment" @default.
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- W3048944574 doi "https://doi.org/10.1097/wco.0000000000000856" @default.
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