Article
Targeting estrogen receptor β as preventive therapeutic strategy for Leber's hereditary optic neuropathy.
Human molecular genetics - 15 Dec 2015
Pisano Annalinda, Preziuso Carmela, Iommarini Luisa, Perli Elena, Grazioli Paola, Campese Antonio F, Maresca Alessandra, Montopoli Monica, Masuelli Laura, Sadun Alfredo A, d'Amati Giulia, Carelli Valerio, Ghelli Anna, Giordano Carla
Abstract excerpt
Leber's hereditary optic neuropathy (LHON) is a maternally inherited blinding disease characterized by degeneration of retinal ganglion cells (RGCs) and consequent optic nerve atrophy. Peculiar features of LHON are incomplete penetrance and gender bias, with a marked male prevalence. Based on the different hormonal metabolism between genders, we proposed that estrogens play a protective role in females and showed...
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