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Titolo:
Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1
Autore:
Incerti, B; Cortese, K; Pizzigoni, A; Surace, EM; Varani, S; Coppola, M; Jeffery, G; Seeliger, M; Jaissle, G; Bennett, DC; Marigo, V; Schiaffino, MV; Tacchetti, C; Ballabio, A;
Indirizzi:
Telethon Inst Genet & Med, TIGEM, I-20132 Milan, Italy Telethon Inst Genet& Med Milan Italy I-20132 IGEM, I-20132 Milan, Italy Univ Genoa, Anat Sect, Dept Expt Med, I-16132 Genoa, Italy Univ Genoa Genoa Italy I-16132 Sect, Dept Expt Med, I-16132 Genoa, Italy Univ Coll London, Inst Ophthalmol, London, England Univ Coll London London England ondon, Inst Ophthalmol, London, England Univ Tubingen, Hosp Eye, Retinal Electrodiagnost Res Grp, D-72076 Tubingen, Germany Univ Tubingen Tubingen Germany D-72076 es Grp, D-72076 Tubingen, Germany St George Hosp, Sch Med, London SW17 0RE, England St George Hosp London England SW17 0RE Sch Med, London SW17 0RE, England Univ Vita & Salute, I-20132 Milan, Italy Univ Vita & Salute Milan Italy I-20132 ta & Salute, I-20132 Milan, Italy
Titolo Testata:
HUMAN MOLECULAR GENETICS
fascicolo: 19, volume: 9, anno: 2000,
pagine: 2781 - 2788
SICI:
0964-6906(20001122)9:19<2781:OKNIOT>2.0.ZU;2-P
Fonte:
ISI
Lingua:
ENG
Soggetto:
RETINAL-PIGMENT EPITHELIUM; DISTAL SHORT ARM; X-CHROMOSOME; GENE; MICE; MACROMELANOSOMES; COMPLEMENTATION; EXPRESSION; CLONING; PRODUCT;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
36
Recensione:
Indirizzi per estratti:
Indirizzo: Incerti, B Telethon Inst Genet & Med, TIGEM, San Raffaele Biomed Sci Pk,Via Olgettina58, I-20132 Milan, Italy Telethon Inst Genet & Med San Raffaele Biomed Sci Pk,Via Olgettina 58 Milan Italy I-20132
Citazione:
B. Incerti et al., "Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1", HUM MOL GEN, 9(19), 2000, pp. 2781-2788

Abstract

Ocular albinism type I (OA1) is an X-linked disorder characterized by severe reduction of visual acuity, strabismus, photophobia and nystagmus, Ophthalmologic examination reveals hypopigmentation of the retina, foveal hypoplasia and iris translucency. Microscopic examination of both retinal pigmentepithelium (RPE) and skin melanocytes shows the presence of large pigment granules called giant melanosomes or macromelanosomes, In this study, we have generated and characterized Oa1-deficient mice by gene targeting (KO), The KO males are viable, fertile and phenotypically indistinguishable from the wild-type littermates. Ophthalmologic examination shows hypopigmentationof the ocular fundus in mutant animals compared with wild-type, Analysis of the retinofugal pathway reveals a reduction in the size of the uncrossed pathway, demonstrating a misrouting of the optic fibres at the chiasm, as observed in OA1 patients. Microscopic examination of the RPE shows the presence of giant melanosomes comparable with those described in OAl patients. Ultrastructural analysis of the RPE cells, suggests that the giant melanosomes may form by abnormal growth of single melanosomes, rather than the fusion of several, shedding light on the pathogenesis of ocular albinism.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 15/07/20 alle ore 05:33:01