Cecile Delettre

Publications

• WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity
  Ophthalmology. Sep, 2016  |   Pubmed ID: 27395765
• Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies
  American Journal of Human Genetics. Nov, 2015  |   Pubmed ID: 26593267
• Impairment of Visual Function and Retinal ER Stress Activation in Wfs1-deficient Mice
  PloS One. 2014  |   Pubmed ID: 24823368
• 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
• Relative Frequencies of Inherited Retinal Dystrophies and Optic Neuropathies in Southern France: Assessment of 21-year Data Management
  Ophthalmic Epidemiology. 2013  |   Pubmed ID: 23350551
• The Human OPA1delTTAG Mutation Induces Premature Age-related Systemic Neurodegeneration in Mouse
  Brain : a Journal of Neurology. Dec, 2012  |   Pubmed ID: 23250881
• Dominant Optic Atrophy
  Orphanet Journal of Rare Diseases. Jul, 2012  |   Pubmed ID: 22776096
• OPA1 Links Human Mitochondrial Genome Maintenance to MtDNA Replication and Distribution
  Genome Research. Jan, 2011  |   Pubmed ID: 20974897
• [From Yeast to Neurodegenerative Diseases: Ten Years of Exploration of Mitochondrial Dynamic Disorders]
  Medecine Sciences : M/S. Oct, 2010  |   Pubmed ID: 20929674
• OPA1 Functions in Mitochondria and Dysfunctions in Optic Nerve
  The International Journal of Biochemistry & Cell Biology. Oct, 2009  |   Pubmed ID: 19389483
• Reversible Optic Neuropathy with OPA1 Exon 5b Mutation
  Annals of Neurology. May, 2008  |   Pubmed ID: 18360822
• Effects of OPA1 Mutations on Mitochondrial Morphology and Apoptosis: Relevance to ADOA Pathogenesis
  Journal of Cellular Physiology. May, 2007  |   Pubmed ID: 17167772
• Homozygous Deletion Related to Alu Repeats in RLBP1 Causes Retinitis Punctata Albescens
  Investigative Ophthalmology & Visual Science. Nov, 2006  |   Pubmed ID: 17065479
• Mitochondrial Dynamics and Disease, OPA1
  Biochimica Et Biophysica Acta. May-Jun, 2006  |   Pubmed ID: 16737747
• 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
• 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
• 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
• 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
• 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
• Gene Structure and Chromosomal Localization of Mouse Opa1 : Its Exclusion from the Bst Locus
  BMC Genetics. May, 2003  |   Pubmed ID: 12735796
• Identification of Preferentially Expressed MRNAs in Retina and Cochlea
  DNA and Cell Biology. Nov, 2002  |   Pubmed ID: 12489989
• What Similarity Between Human and Fission Yeast Proteins is Required for Orthology?
  Yeast (Chichester, England). Sep, 2002  |   Pubmed ID: 12237853
• 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
• OPA1 (Kjer Type) Dominant Optic Atrophy: a Novel Mitochondrial Disease
  Molecular Genetics and Metabolism. Feb, 2002  |   Pubmed ID: 11855928