Research Topics
| C P HamelSummaryCountry: France Publications
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Detail Information
Publications
Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assayValérie Faugère
Laboratoire de Genetique Moleculaire, Institut Universitaire de Recherche Clinique IURC et CHU, 641 Avenue du Doyen Gaston Giraud, 34093 Montpellier Cedex 5, France
BMC Genet 4:1. 2003..Affected Caucasian males usually appear to have normal skin and hair pigment...- Gene structure and chromosomal localization of mouse Opa1 : its exclusion from the Bst locusCécile Delettre
INSERM U, 254 71, rue de Navacelles 34090, Montpellier, France
BMC Genet 4:8. 2003..In order to analyse the Bst mouse as a model for DOA, we therefore characterized mouse Opa1 and evaluated it as a candidate for the Bst mutant mouse... - Cone rod dystrophiesChristian P Hamel
INSERM U 583, Physiopathologie et Therapie des deficits sensoriels et moteurs, Institut des Neurosciences de Montpellier, BP 74103, 80 av, Augustin Fliche, 34091 Montpellier Cedex 05, France
Orphanet J Rare Dis 2:7. 2007..Management aims at slowing down the degenerative process, treating the complications and helping patients to cope with the social and psychological impact of blindness... 
[Molecular genetics of pigmentary retinopathies: identification of mutations in CHM, RDS, RHO, RPE65, USH2A and XLRS1 genes]C P Hamel
Laboratoire de Neurobiologie, INSERM U 254, 71, rue de Navacelles, 34090 Montpellier
J Fr Ophtalmol 23:985-95. 2000..To characterize genes and mutations causing these conditions...- Retinal dystrophies caused by mutations in RPE65: assessment of visual functionsC P Hamel
Service d Ophtalmologie, Hopital Gui de Chauliac, 80, avenue Augustin Fliche, 34295 Montpellier Cedex 5, France
Br J Ophthalmol 85:424-7. 2001..To characterise the disease in patients with mutations in RPE65... - Retinitis pigmentosaChristian Hamel
INSERM U, 583, Physiopathologie et Therapie des deficits sensoriels et moteurs, Institut des Neurosciences de Montpellier, Hopital Saint Eloi, BP 74103, 80 av, Augustin Fliche, 34091 Montpellier Cedex 05, France
Orphanet J Rare Dis 1:40. 2006..However, new therapeutic strategies are emerging from intensive research (gene therapy, neuroprotection, retinal prosthesis)... - Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 geneF Marlhens
Laboratoire de Neurobiologie de l audition, Plasticité Synaptique, Hopital Gui de Chauliac, Montpellier, France
Eur J Hum Genet 6:527-31. 1998..The relatively mild phenotype associated with these mutations suggests a possible link between the severity of the disease and the type of mutations in the RPE65 gene... - Mutation spectrum and splicing variants in the OPA1 geneC Delettre
INSERM U 254, 71, rue de Navacelles, 34090 Montpellier, France
Hum Genet 109:584-91. 2001..We hypothesize that at least two modifications of OPA1 may lead to dominant optic atrophy, that is alteration in GTPase activity and loss of the last seven C-terminal amino acids that putatively interact with other proteins... - Rat messenger RNA for the retinal pigment epithelium-specific protein RPE65 gradually accumulates in two weeks from late embryonic daysG Manes
INSERM U 254, Hôpital Saint Charles, Montpellier, France
FEBS Lett 423:133-7. 1998..This timing and rate of accumulation parallels that of rat and mouse opsin mRNA and suggests that common factors may control the activation of genes in photoreceptors and retinal pigment epithelium cells... - Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophyC Delettre
INSERM U 254, Laboratoire de Neurobiologie de l audition, Montpellier, France
Nat Genet 26:207-10. 2000..We found four different OPA1 mutations, including frameshift and missense mutations, to segregate with the disease, demonstrating a role for mitochondria in retinal ganglion cell pathophysiology... - Expression of the Opa1 mitochondrial protein in retinal ganglion cells: its downregulation causes aggregation of the mitochondrial networkSatomi Kamei
Institut National de la Santé et de la Recherche Médicale INSERM U583, Physiopathologie et Therapie des deficits sensoriels et moteurs, Institut des Neurosciences de Montpellier, Hopital Saint Eloi, France
Invest Ophthalmol Vis Sci 46:4288-94. 2005..As a first step in functional studies, this study was conducted to evaluate the expression of Opa1 in whole retina and in isolated retinal ganglion cells (RGCs) and to test the effects of Opa1 downregulation in cultured RGCs... - OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial diseaseCécile Delettre
INSERM U 254, Laboratoire de Neurobiologie de l audition, 71, rue de Navacelles, 34090Montpellier, France
Mol Genet Metab 75:97-107. 2002..The findings that OPA1-type DOA, as Leber optic neuropathy, is caused by the impairment of a mitochondrial protein address the question of the vulnerability of the retinal ganglion cell in response to mitochondrial defects... - What similarity between human and fission yeast proteins is required for orthology?Guy Lenaers
LBCMCP, CNRS UMR5088, IFR 109, Universite Paul Sabatier, Bât 4R3 B1, 118 route de Narbonne, 31062 Toulouse Cedex, France
Yeast 19:1125-6. 2002 - The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane spaceAurelien Olichon
Laboratoire de Biologie Cellulaire et Moléculaire du Contrôle de la Prolifération and Laboratoire de Biologie Moléculaire des Eucaryotes, IFR109, Universite Paul Sabatier, 118 route de Narbonne, 31062 cedex 04, Toulouse, France
FEBS Lett 523:171-6. 2002..The strong association of OPA1 with membranes suggests its anchoring to the inner membrane... - Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophyMargarita Indelman
Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, Israel
J Invest Dermatol 121:1217-20. 2003.... - Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosisAudrey Sénéchal
Institut National de la Sante et de la Recherche Medicale INSERM, Institut des Neurosciences de Montpellier, Hopital Saint Eloi, Montpellier Cedex 5, France
Am J Ophthalmol 142:702-4. 2006..To evaluate the mutation prevalence and phenotype in genes involved in the ocular retinoid metabolism... - RRH, encoding the RPE-expressed opsin-like peropsin, is not mutated in retinitis pigmentosa and allied diseasesMohamed Ksantini
INSERM, Institut des Neurosciences de Montpellier, Hopital Saint Eloi, Montpellier, Cedex, France
Ophthalmic Genet 28:31-7. 2007..We conclude that RRH is not a frequent gene in retinitis pigmentosa... - Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophyChristina F Chakarova
Institute of Ophthalmology, University College London, London, UK
Am J Hum Genet 81:1098-103. 2007....