J
Jean-Michel Griffoin
Researcher at French Institute of Health and Medical Research
Publications - 11
Citations - 2514
Jean-Michel Griffoin is an academic researcher from French Institute of Health and Medical Research. The author has contributed to research in topics: Compound heterozygosity & RPE65. The author has an hindex of 7, co-authored 11 publications receiving 2401 citations.
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Journal ArticleDOI
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy.
Cécile Delettre,Guy Lenaers,Jean-Michel Griffoin,Nadine Gigarel,Corinne Lorenzo,Pascale Belenguer,Laetitia Pelloquin,J. Grosgeorge,Claude Turc-Carel,Eric Perret,Catherine Astarie-Dequeker,Laetitia Lasquellec,B. Arnaud,Bernard Ducommun,Josseline Kaplan,Christian P. Hamel +15 more
TL;DR: A nuclear gene, OPA1, is described here a nuclear gene that maps within the candidate region and encodes a dynamin-related protein localized to mitochondria, demonstrating a role for mitochondria in retinal ganglion cell pathophysiology.
Journal ArticleDOI
Mutations in RPE65 cause Leber's congenital amaurosis
Françoise Marlhens,C. Bareil,Jean-Michel Griffoin,Eberhart Zrenner,Amalric P,C. Eliaou,Shengfa Liu,Emily L. Harris,T M Redmond,B. Arnaud,Mireille Claustres,Christian P. Hamel +11 more
Journal ArticleDOI
Mutation spectrum and splicing variants in the OPA1 gene.
Cécile Delettre,Jean-Michel Griffoin,Josseline Kaplan,Hélène Dollfus,Birgit Lorenz,Laurence Faivre,Guy Lenaers,Pascale Belenguer,Christian P. Hamel +8 more
TL;DR: It is 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.
Journal ArticleDOI
Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene.
Françoise Marlhens,Jean-Michel Griffoin,Corinne Bareil,B. Arnaud,Mireille Claustres,Christian P. Hamel +5 more
TL;DR: Two novel missense RPE65 mutations are described, L22P and H68Y, in a compound heterozygote with autosomal recessive retinal dystrophy, which suggests a possible link between the severity of the disease and the type of mutations in the R PE65 gene.
Journal ArticleDOI
Retinal dystrophies caused by mutations in RPE65: assessment of visual functions.
TL;DR: Compound heterozygote individuals had severe rod-cone dystrophies featuring few pigment deposits in the fundus, pigment epithelium atrophy, and early involvement of the macula, with variations in severity leading to the diagnosis of Leber's congenital amaurosis or retinitis pigmentosa.