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OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease.
Molecular genetics and metabolism Feb, 2002 | Pubmed ID: 11855928
The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane space.
FEBS letters Jul, 2002 | Pubmed ID: 12123827
What similarity between human and fission yeast proteins is required for orthology?
Yeast (Chichester, England) Sep, 2002 | Pubmed ID: 12237853
Identification of preferentially expressed mRNAs in retina and cochlea.
DNA and cell biology Nov, 2002 | Pubmed ID: 12489989
Gene structure and chromosomal localization of mouse Opa1 : its exclusion from the Bst locus.
BMC genetics May, 2003 | Pubmed ID: 12735796
Mitochondrial dysfunction in CD47-mediated caspase-independent cell death: ROS production in the absence of cytochrome c and AIF release.
Biochimie Aug, 2003 | Pubmed ID: 14585540
Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.
Human mutation Jun, 2003 | Pubmed ID: 14961560
Expression of the Opa1 mitochondrial protein in retinal ganglion cells: its downregulation causes aggregation of the mitochondrial network.
Investigative ophthalmology & visual science Nov, 2005 | Pubmed ID: 16249510
AIFsh, a novel apoptosis-inducing factor (AIF) pro-apoptotic isoform with potential pathological relevance in human cancer.
The Journal of biological chemistry Mar, 2006 | Pubmed ID: 16365034
Identification and characterization of AIFsh2, a mitochondrial apoptosis-inducing factor (AIF) isoform with NADH oxidase activity.
The Journal of biological chemistry Jul, 2006 | Pubmed ID: 16644725
Mitochondrial dynamics and disease, OPA1.
Biochimica et biophysica acta May-Jun, 2006 | Pubmed ID: 16737747
Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens.
Investigative ophthalmology & visual science Nov, 2006 | Pubmed ID: 17065479
Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesis.
Journal of cellular physiology May, 2007 | Pubmed ID: 17167772
Reversible optic neuropathy with OPA1 exon 5b mutation.
Annals of neurology May, 2008 | Pubmed ID: 18360822
OPA1 functions in mitochondria and dysfunctions in optic nerve.
The international journal of biochemistry & cell biology Oct, 2009 | Pubmed ID: 19389483
[From yeast to neurodegenerative diseases: ten years of exploration of mitochondrial dynamic disorders].
Medecine sciences : M/S Oct, 2010 | Pubmed ID: 20929674
OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution.
Genome research Jan, 2011 | Pubmed ID: 20974897
Dominant optic atrophy.
Orphanet journal of rare diseases Jul, 2012 | Pubmed ID: 22776096
The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse.
Brain : a journal of neurology Dec, 2012 | Pubmed ID: 23250881
Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.
Ophthalmic epidemiology , 2013 | Pubmed ID: 23350551
A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network.
Journal of medical genetics Dec, 2013 | Pubmed ID: 24136862
Impairment of visual function and retinal ER stress activation in Wfs1-deficient mice.
PloS one , 2014 | Pubmed ID: 24823368
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.
American journal of human genetics Nov, 2015 | Pubmed ID: 26593267
WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity.
Ophthalmology Sep, 2016 | Pubmed ID: 27395765
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