Article
Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma.
American journal of human genetics - 1 Oct 2009
Pasutto Francesca, Matsumoto Tomoya, Mardin Christian Y, Sticht Heinrich, Brandstätter Johann H, Michels-Rautenstrauss Karin, Weisschuh Nicole, Gramer Eugen, Ramdas Wishal D, van Koolwijk Leonieke M E, Klaver Caroline C W, Vingerling Johannes R, Weber Bernhard H F, Kruse Friedrich E, Rautenstrauss Bernd, Barde Yves-Alain, Reis André
Abstract excerpt
Glaucoma, a main cause of blindness in the developed world, is characterized by progressive degeneration of retinal ganglion cells (RGCs), resulting in irreversible loss of vision. Although members of the neurotrophin gene family in various species are known to support the survival of numerous neuronal populations, including RGCs, it is less clear whether they are also required for survival and maintenance of...
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