C P Hamel

Summary

Country: France

Publications

  1. pmc Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay
    Valérie 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
  2. pmc Gene structure and chromosomal localization of mouse Opa1 : its exclusion from the Bst locus
    Cécile Delettre
    INSERM U, 254 71, rue de Navacelles 34090, Montpellier, France
    BMC Genet 4:8. 2003
  3. pmc Cone rod dystrophies
    Christian 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
  4. ncbi [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
  5. pmc Retinal dystrophies caused by mutations in RPE65: assessment of visual functions
    C 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
  6. pmc Retinitis pigmentosa
    Christian 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
  7. ncbi Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene
    F Marlhens
    Laboratoire de Neurobiologie de l audition, Plasticité Synaptique, Hopital Gui de Chauliac, Montpellier, France
    Eur J Hum Genet 6:527-31. 1998
  8. ncbi Mutation spectrum and splicing variants in the OPA1 gene
    C Delettre
    INSERM U 254, 71, rue de Navacelles, 34090 Montpellier, France
    Hum Genet 109:584-91. 2001
  9. ncbi Rat messenger RNA for the retinal pigment epithelium-specific protein RPE65 gradually accumulates in two weeks from late embryonic days
    G Manes
    INSERM U 254, Hôpital Saint Charles, Montpellier, France
    FEBS Lett 423:133-7. 1998
  10. ncbi Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
    C Delettre
    INSERM U 254, Laboratoire de Neurobiologie de l audition, Montpellier, France
    Nat Genet 26:207-10. 2000

Collaborators

  • M Claustres
  • C F Schmitt-Bernard
  • L Faivre
  • B Lorenz
  • Cécile Delettre
  • Reuven Bergman
  • Anand Swaroop
  • Chris P Ponting
  • Robert Karel Koenekoop
  • E Sprecher
  • Aurelien Olichon
  • Guy Lenaers
  • Audrey Sénéchal
  • Pascale Belenguer
  • Mohamed Ksantini
  • Christina F Chakarova
  • Ghyslaine Humbert
  • Bernard Arnaud
  • Philippe Brabet
  • Satomi Kamei
  • Marie Odile Surget
  • Valérie Faugère
  • Margarita Indelman
  • Laetitia Pelloquin
  • Emmanuelle Guillou
  • Laurent J Emorine
  • Bernard Ducommun
  • De Quincy Prescott
  • Mai M Abd El-Aziz
  • Brotati Veraitch
  • Wendy A Bickmore
  • Amna Shah
  • Hemant Khanna
  • Torsten Theis
  • Andreas Gal
  • Shomi S Bhattacharya
  • Karl Matter
  • Robert K Koenekoop
  • James Friedman
  • Sunil K Parapuram
  • Naushin Waseem
  • Myrto G Papaioannou
  • Cecilia Maubaret
  • Valeria Marigo
  • Bernd Wissinger
  • Irma Lopez
  • Peter M G Munro
  • Eberhart Zrenner
  • Kinga Bujakowska
  • Carl Arndt
  • Christian Bazalgette
  • Eric Laurent
  • G Manes
  • F Marlhens
  • Cécile Bazalgette
  • Gautier Roussignol
  • Nicole Renard
  • Murielle Chen-Kuo-Chang
  • Adeline Michelin
  • Chantal Cazevieille
  • Michel Eybalin
  • Michal Ramon
  • Ken K Nischal
  • Raziel Lurie
  • Hatam Ganthos
  • Isabelle Russell-Eggitt
  • Rina Leibu
  • Benjamin Miller
  • Sylvie Tuffery-Giraud
  • Gabriele Richard
  • Dorothy Thompson
  • Eric Descoins
  • Laetitia Brichese
  • Annie Valette
  • Nicole Gas
  • J M Griffoin
  • B Arnaud
  • J Kucharczak
  • A Pages
  • C Bareil
  • R Leducq

Detail Information

Publications18

  1. pmc Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay
    Valérie 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...
  2. pmc Gene structure and chromosomal localization of mouse Opa1 : its exclusion from the Bst locus
    Cécile 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...
  3. pmc Cone rod dystrophies
    Christian 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...
  4. ncbi [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...
  5. pmc Retinal dystrophies caused by mutations in RPE65: assessment of visual functions
    C 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...
  6. pmc Retinitis pigmentosa
    Christian 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)...
  7. ncbi Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene
    F 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...
  8. ncbi Mutation spectrum and splicing variants in the OPA1 gene
    C 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...
  9. ncbi Rat messenger RNA for the retinal pigment epithelium-specific protein RPE65 gradually accumulates in two weeks from late embryonic days
    G 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...
  10. ncbi Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
    C 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...
  11. ncbi Expression of the Opa1 mitochondrial protein in retinal ganglion cells: its downregulation causes aggregation of the mitochondrial network
    Satomi 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...
  12. ncbi OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease
    Cécile 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...
  13. ncbi 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
  14. ncbi The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane space
    Aurelien 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...
  15. ncbi Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophy
    Margarita Indelman
    Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, Israel
    J Invest Dermatol 121:1217-20. 2003
    ....
  16. ncbi Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis
    Audrey 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...
  17. ncbi RRH, encoding the RPE-expressed opsin-like peropsin, is not mutated in retinitis pigmentosa and allied diseases
    Mohamed 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...
  18. pmc Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy
    Christina F Chakarova
    Institute of Ophthalmology, University College London, London, UK
    Am J Hum Genet 81:1098-103. 2007
    ....