Analysis of opa1 isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opa1 gene.

Abstract

Autosomal dominant optic atrophy (ADOA) is a hereditary optic neuropathy characterized by bilateral symmetrical visual loss, decrease in retinal ganglion cells and a loss of myelin within the optic nerve. ADOA is associated to mutations in Optic atrophy 1 gene (OPA1), which encodes a mitochondrial protein involved in cristae remodeling, maintenance of… (More)
DOI: 10.1016/j.jns.2015.02.047

Topics

Cite this paper

@article{Formichi2015AnalysisOO, title={Analysis of opa1 isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opa1 gene.}, author={Patrizia Formichi and Elena Radi and Eleonora Giorgi and Gian Nicola Gallus and Jlenia Brunetti and Carla Battisti and Alessandra Rufa and Maria Teresa Dotti and Rossella Franceschini and Luisa Bracci and Antonio Federico}, journal={Journal of the neurological sciences}, year={2015}, volume={351 1-2}, pages={99-108} }