C. Delettre

发表

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

B. Lorenz, D. Bonneau, P. Amati‐Bonneau, 2003, Human mutation.

Dominant optic atrophy

D. Milea, D. Bonneau, P. Amati‐Bonneau, 2012, Orphanet Journal of Rare Diseases.

Wolfram syndrome: MAMs’ connection?

B. Delprat, C. Delettre, T. Maurice, 2018, Cell Death & Disease.

AIFsh, a Novel Apoptosis-inducing Factor (AIF) Pro-apoptotic Isoform with Potential Pathological Relevance in Human Cancer*

J. Bellalou, V. Yuste, C. Delettre, 2006, Journal of Biological Chemistry.

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

N. Boddaert, J. Renou, Jing Wang, 2012, Brain : a journal of neurology.

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

G. Lenaers, C. Hamel, C. Delettre, 2016, Ophthalmology.

AAV2/9-mediated gene transfer into murine lacrimal gland leads to a long-term targeted tear film modification

C. Audrain, F. Michon, C. Delettre, 2022, bioRxiv.

OPA1 alternate splicing uncouples an evolutionary conserved function in mitochondrial fusion from a vertebrate restricted function in apoptosis

G. Lenaers, P. Belenguer, C. Delettre, 2007, Cell Death and Differentiation.

Mitochondrial dynamics and disease, OPA1.

V. Mils, D. Bonneau, P. Amati‐Bonneau, 2006, Biochimica et biophysica acta.

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

P. Chinnery, P. Yu-Wai-Man, G. Lenaers, 2011, Genome research.

CD44 ligation induces caspase-independent cell death via a novel calpain/AIF pathway in human erythroleukemia cells

C. Jasmin, C. Delettre, R. Moubarak, 2006, Oncogene.

Identification and Characterization of AIFsh2, a Mitochondrial Apoptosis-inducing Factor (AIF) Isoform with NADH Oxidase Activity*

V. Yuste, C. Delettre, R. Moubarak, 2006, Journal of Biological Chemistry.

Defective Endoplasmic Reticulum–Mitochondria Connection Is a Hallmark of Wolfram Syndrome

B. Delprat, J. Rieusset, C. Delettre, 2019, Contact.

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

G. Lenaers, P. Brabet, M. Eybalin, 2005, Investigative ophthalmology & visual science.

Neurological Diseases Associated with Mutations in the Mitochondrial Fusion Machinery

D. Milea, D. Bonneau, P. Amati‐Bonneau, 2011 .

Mutations in DNM1L, as in OPA1, result indominant optic atrophy despite opposite effectson mitochondrial fusion and fission

N. Boddaert, Majida Charif, D. Bonneau, 2017, Brain : a journal of neurology.

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

T. Montange, G. Roué, H. Merle-Béral, 2003, Biochimie.

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

M. Larsen, D. Milea, G. Lenaers, 2016, Human molecular genetics.

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

R. Krüger, B. Delprat, T. Roscioli, 2013, Journal of Medical Genetics.

Reversible optic neuropathy with OPA1 exon 5b mutation

D. Wallace, D. Milea, D. Bonneau, 2008, Annals of neurology.

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.

B. Lorenz, P. Chinnery, P. Yu-Wai-Man, 2015, American journal of human genetics.

OPA1 gene therapy prevents retinal ganglion cell loss in a Dominant Optic Atrophy mouse model

G. Lenaers, M. Seveno, C. Hamel, 2018, Scientific Reports.

Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!

F. Rivier, Majida Charif, G. Lenaers, 2019, Annals of clinical and translational neurology.

The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management

M. Bitner-Glindzicz, C. Möller, T. Bek, 2018, Human Genetics.

Identification of preferentially expressed mRNAs in retina and cochlea.

C. Hamel, C. Delettre, C. Maubaret, 2002, DNA and cell biology.

A gene recently inactivated in human defines a new olfactory receptor family in mammals.

B. Trask, G. van den Engh, A. Blancher, 1998, Human molecular genetics.

Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy

J. Grosgeorge, C. Turc‐Carel, G. Lenaers, 2000, Nature Genetics.

Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy

H. Wilhelm, D. Goudenège, Majida Charif, 2019, The Journal of clinical investigation.

Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo.

M. Cavalier, M. Seveno, C. Hamel, 2017, Journal of visualized experiments : JoVE.

OPA1 functions in mitochondria and dysfunctions in optic nerve.

G. Lenaers, P. Reynier, B. Ducommun, 2009, The international journal of biochemistry & cell biology.

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

V. Mils, D. Bonneau, P. Amati‐Bonneau, 2007, Journal of cellular physiology.

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

G. Lenaers, C. Hamel, P. Belenguer, 2003, BMC Genetics.

G. Lenaers, B. Ducommun, E. Guillou, 2002, Yeast.

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

G. Lenaers, B. Ducommun, E. Guillou, 2002, FEBS letters.

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

G. Lenaers, C. Hamel, P. Belenguer, 2002, Molecular genetics and metabolism.

Mutation spectrum and splicing variants in the OPA1 gene

B. Lorenz, G. Lenaers, L. Faivre, 2001, Human Genetics.

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

G. Lenaers, A. Barakat, C. Hamel, 2006, Investigative ophthalmology & visual science.

Mitochondrial Complex I activity signals antioxidant response through ERK5

J. Enríquez, F. Bertolini, A. Anel, 2018, Scientific Reports.

ER-mitochondria cross-talk is regulated by the Ca2+ sensor NCS1 and is impaired in Wolfram syndrome

B. Delprat, D. Milea, M. Thiry, 2018, Science Signaling.

Cysteine protease inhibition prevents mitochondrial apoptosis-inducing factor (AIF) release

J. d'Alayer, V. Yuste, P. Sancho, 2005, Cell Death and Differentiation.

Relative Frequencies of Inherited Retinal Dystrophies and Optic Neuropathies in Southern France: Assessment of 21-year Data Management

J. Sahel, P. Calvas, M. Claustres, 2013, Ophthalmic epidemiology.

Wolfram syndrome: MAMs’ connection?

B. Delprat, C. Delettre, T. Maurice, 2018, Cell Death & Disease.

Impairment of Visual Function and Retinal ER Stress Activation in Wfs1-Deficient Mice

G. Lenaers, C. Hamel, C. Delettre, 2014, PloS one.

Optic neuropathy linked to ACAD9 pathogenic variants: a potentially riboflavin-responsive disorder?

M. Koenig, G. Lenaers, P. Reynier, 2021, Mitochondrion.

ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia

M. Koenig, P. Rustin, C. Marelli, 2018, Neurology: Genetics.

OPA1 gene therapy prevents retinal ganglion cell loss in a Dominant Optic Atrophy mouse model

G. Lenaers, M. Seveno, C. Hamel, 2018, Scientific Reports.

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

M. Larsen, D. Milea, G. Lenaers, 2017, Human molecular genetics.

Loss of function of Ywhah in mice induces deafness and cochlear outer hair cells' degeneration

G. Rebillard, B. Delprat, P. Chinnery, 2016, Cell Death Discovery.

Loss of function of Ywhah in mice induces deafness and cochlear outer hair cell's degeneration

B. Delprat, C. Delettre, L. Buret, 2016, Cell Death and Disease.

Reply: The expanding neurological phenotype of DNM1L-related disorders.

N. Boddaert, D. Bonneau, P. Amati‐Bonneau, 2018, Brain : a journal of neurology.