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• W2073996202 abstract "Charcot-Marie-Tooth disease is the most common inherited disorder of the peripheral nervous system. The disease is characterized by a progressive muscle weakness and atrophy, sensory loss, foot (and hand) deformities and steppage gait. While many of the genes associated with axonal CMT have been identified, to date it is unknown which mechanism(s) causes the disease. However, genetic findings indicate that the underlying mechanisms mainly converge to the axonal cytoskeleton. In this review, we will summarize the evidence for this pathogenic convergence. Furthermore, recent work with new transgenic mouse models has led to the identification of histone deacetylase 6 as a potential therapeutic target for inherited peripheral neuropathies. This enzyme deacetylates microtubules and plays a crucial role in the regulation of axonal transport. These findings offer new perspectives for a potential therapy to treat axonal Charcot-Marie-Tooth disease and other neurodegenerative disorders characterized by axonal transport defects." @default.
• W2073996202 created "2016-06-24" @default.
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• W2073996202 date "2012-08-01" @default.
• W2073996202 modified "2023-10-18" @default.
• W2073996202 title "Charcot-Marie-Tooth disease: Emerging mechanisms and therapies" @default.
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• W2073996202 doi "https://doi.org/10.1016/j.biocel.2012.04.020" @default.
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