Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy

Hum Mol Genet. 2017 Dec 1;26(23):4764. doi: 10.1093/hmg/ddx376.

Emmanuelle Sarzi¹, Marie Seveno¹, Claire Angebault¹, Dan Milea^{2

3

4

5}, Cecilia Rönnbäck^{6

7}, Melanie Quilès^{1

8}, Mathias Adrian¹, Joanna Grenier^{1

9}, Angélique Caignard², Annie Lacroux^{1

9}, Christian Lavergne¹⁰, Pascal Reynier², Michael Larsen^{6

7}, Christian P Hamel^{1

9}, Cécile Delettre¹, Guy Lenaers^{1

11}, Agnès Müller^{1

8}

¹ INSERM U1051 - Institut des Neurosciences de Montpellier, Montpellier, France.
² Département de Biochimie et Génétique, UMR CNRS 6214-INSERM 1083, Centre Hospitalier Universitaire, Angers, France.
³ Singapore National Eye Centre, Singapore.
⁴ Singapore Eye Research Institute, Singapore.
⁵ Duke-NUS, Singapore.
⁶ Department of Ophthalmology, Glostrup Hospital, Glostrup, Denmark.
⁷ Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
⁸ Université de Montpellier - Faculté de Pharmacie-Montpellier, France.
⁹ Centre de référence des affections sensorielles d'origine génétique, Hôpital Gui de Chauliac, Montpellier, France.
¹⁰ Institut Montpelliérain Alexander Grothendieck. Université Montpellier 3, France.
¹¹ PREMMI, UMR CNRS 6214-INSERM 1083, Université d'Angers, France.

No abstract available

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