Cecile Delettre

OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease.

The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane space.

What similarity between human and fission yeast proteins is required for orthology?

Identification of preferentially expressed mRNAs in retina and cochlea.

Gene structure and chromosomal localization of mouse Opa1 : its exclusion from the Bst locus.

Mitochondrial dysfunction in CD47-mediated caspase-independent cell death: ROS production in the absence of cytochrome c and AIF release.

Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.

Expression of the Opa1 mitochondrial protein in retinal ganglion cells: its downregulation causes aggregation of the mitochondrial network.

AIFsh, a novel apoptosis-inducing factor (AIF) pro-apoptotic isoform with potential pathological relevance in human cancer.

Identification and characterization of AIFsh2, a mitochondrial apoptosis-inducing factor (AIF) isoform with NADH oxidase activity.

Mitochondrial dynamics and disease, OPA1.

Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens.

Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesis.

Reversible optic neuropathy with OPA1 exon 5b mutation.

OPA1 functions in mitochondria and dysfunctions in optic nerve.

[From yeast to neurodegenerative diseases: ten years of exploration of mitochondrial dynamic disorders].

OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution.

Dominant optic atrophy.

The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse.

Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.

A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network.

Impairment of visual function and retinal ER stress activation in Wfs1-deficient mice.

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.

WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity.