Melanie Quiles
Montpellier, France
Last Updated: 09/26/2026
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Found 13 publications
WFS1 gene delivery rescues visual function in a mouse model of Wolfram syndrome.
Journal: Acta neuropathologica communications
Published: August 21, 2025
Inherited mitochondrial dysfunction triggered by OPA1 mutation impacts the sensory innervation fibre identity, functionality and regenerative potential in the cornea.
Journal: Scientific reports
Published: April 26, 2024
SPACR Encoded by IMPG1 Is Essential for Photoreceptor Survival by Interplaying between the Interphotoreceptor Matrix and the Retinal Pigment Epithelium.
Journal: Genes
Published: July 29, 2022
Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy.
Journal: The Journal of clinical investigation
Published: February 28, 2019
ER-mitochondria cross-talk is regulated by the Ca2+ sensor NCS1 and is impaired in Wolfram syndrome.
ER-mitochondria cross-talk is regulated by the Ca2+ sensor NCS1 and is impaired in Wolfram syndrome.
Journal: Science signaling
Published: October 25, 2018
Reply: The expanding neurological phenotype of DNM1L-related disorders.
Journal: Brain : a journal of neurology
Published: March 13, 2018
Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy.
Journal: Human molecular genetics
Published: October 19, 2017
ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia.
Journal: Neurology. Genetics
Published: August 27, 2017
OPA1 gene therapy prevents retinal ganglion cell loss in a Dominant Optic Atrophy mouse model.
Journal: Scientific reports
Published: August 23, 2017
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission.
Journal: Brain : a journal of neurology
Published: March 10, 2017
Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy.
Journal: Human molecular genetics
Published: February 08, 2016
A dominant mutation in MAPKAPK3, an actor of p38 signaling pathway, causes a new retinal dystrophy involving Bruch's membrane and retinal pigment epithelium.
Journal: Human molecular genetics
Published: October 06, 2015
Last Updated: 09/26/2026