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Despite therapeutic advancements, current treatments mainly aim at symptom relief and vasodilation, with limited effectiveness in resolving the mechanisms underlying RV dysfunction

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GSH also conjugates electrophilic xenobiotics for elimination and has been linked to activation of the Nrf2/HO-1 cytoprotective pathway

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As loss of ATM correlates with decreased pigmentation in hair follicle melanocytes it is difficult to determine if loss of melanin contributes to a reduction in ATM expression or drives the process of ATM loss more rapidly

Ribas GS, Vargas CR (2020) Evidence that oxidative disbalance and mitochondrial dysfunction are involved in the pathophysiology of fatty acid oxidation disorders