메뉴 건너뛰기




Volumn 10, Issue 2, 2004, Pages 51-54

Recent advances in early-onset severe retinal degeneration: More than just basic research?

Author keywords

[No Author keywords available]

Indexed keywords

ALITRETINOIN; AROMATIC HYDROCARBON RECEPTOR INTERACTING PROTEIN LIKE 1; EYE PROTEIN; GUANYLATE CYCLASE; HOMEODOMAIN PROTEIN; LECITHIN RETINOL ACYLTRANSFERASE; PROTEIN; PROTEIN CRB1; PROTEIN RPE65; RPE RETINA G PROTEIN COUPLED RECEPTOR INTERACTING PROTEIN 1; UNCLASSIFIED DRUG;

EID: 1142309835     PISSN: 14714914     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.molmed.2003.12.002     Document Type: Short Survey
Times cited : (12)

References (24)
  • 1
    • 0037370521 scopus 로고    scopus 로고
    • Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis
    • Milam A.H., et al. Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis. Ophthalmology. 110:2003;549-558.
    • (2003) Ophthalmology , vol.110 , pp. 549-558
    • Milam, A.H.1
  • 2
    • 0037313712 scopus 로고    scopus 로고
    • Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance
    • Udar N., et al. Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance. Hum. Mutat. 21:2003;170-171.
    • (2003) Hum. Mutat. , vol.21 , pp. 170-171
    • Udar, N.1
  • 3
    • 0037091102 scopus 로고    scopus 로고
    • Functional analysis of cone-rod homeobox (CRX) mutations associated with retinal dystrophy
    • Chen S., et al. Functional analysis of cone-rod homeobox (CRX) mutations associated with retinal dystrophy. Hum. Mol. Genet. 11:2002;873-884.
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 873-884
    • Chen, S.1
  • 4
    • 0042131538 scopus 로고    scopus 로고
    • RPGRIP1 s with distinct neuronal localization and biochemical properties associate selectively with RanBP2 in amacrine neurons
    • Castagnet P., et al. RPGRIP1 s with distinct neuronal localization and biochemical properties associate selectively with RanBP2 in amacrine neurons. Hum. Mol. Genet. 12:2003;1847-1863.
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 1847-1863
    • Castagnet, P.1
  • 5
    • 0036667989 scopus 로고    scopus 로고
    • Species-specific subcellular localization of RPGR and RPGRIP isoforms: Implications for the phenotypic variability of congenital retinopathies among species
    • Mavlyutov T.A., et al. Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species. Hum. Mol. Genet. 11:2002;1899-1907.
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 1899-1907
    • Mavlyutov, T.A.1
  • 6
    • 1142291300 scopus 로고    scopus 로고
    • Mutations in CRB1 are a major risk factor for the development of Coats-like exudative vasculopathy in retinitis pigmentosa, and are the cause of 13% of Leber congenital amaurosis
    • den Hollander A.I., et al. Mutations in CRB1 are a major risk factor for the development of Coats-like exudative vasculopathy in retinitis pigmentosa, and are the cause of 13% of Leber congenital amaurosis. Am. J. Hum. Genet. 69:2001;653.
    • (2001) Am. J. Hum. Genet. , vol.69 , pp. 653
    • Den Hollander, A.I.1
  • 7
    • 10744224972 scopus 로고    scopus 로고
    • CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina
    • Mehalow A.K., et al. CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina. Hum. Mol. Genet. 12:2003;2179-2189.
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 2179-2189
    • Mehalow, A.K.1
  • 8
    • 0038364012 scopus 로고    scopus 로고
    • Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination
    • Jacobson S.G., et al. Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination. Hum. Mol. Genet. 12:2003;1073-1078.
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 1073-1078
    • Jacobson, S.G.1
  • 9
    • 0037108934 scopus 로고    scopus 로고
    • The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1
    • Akey D.T., et al. The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1. Hum. Mol. Genet. 11:2002;2723-2733.
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 2723-2733
    • Akey, D.T.1
  • 10
    • 0242331665 scopus 로고    scopus 로고
    • AIPL1, a protein implicated in Leber's congenital amaurosis, interacts with and aids in processing of farnesylated proteins
    • Ramamurthy V., et al. AIPL1, a protein implicated in Leber's congenital amaurosis, interacts with and aids in processing of farnesylated proteins. Proc. Natl. Acad. Sci. U. S. A. 100:2003;12630-12635.
    • (2003) Proc. Natl. Acad. Sci. U. S. A. , vol.100 , pp. 12630-12635
    • Ramamurthy, V.1
  • 11
    • 85030902147 scopus 로고    scopus 로고
    • Rpe65 is a retinyl-ester binding protein that presents insoluble substrate to the isomerase in retinal pigment epithelial cells
    • in press
    • Mata, N.L. et al. Rpe65 is a retinyl-ester binding protein that presents insoluble substrate to the isomerase in retinal pigment epithelial cells. J. Biol. Chem. (in press).
    • J. Biol. Chem.
    • Mata, N.L.1
  • 12
    • 0026026516 scopus 로고
    • Membrane phospholipids as an energy source in the operation of the visual cycle
    • Rando R.R. Membrane phospholipids as an energy source in the operation of the visual cycle. Biochemistry. 30:1991;595-602.
    • (1991) Biochemistry , vol.30 , pp. 595-602
    • Rando, R.R.1
  • 13
    • 0036778232 scopus 로고    scopus 로고
    • Evidence of a founder effect for the RETGC1 (GUCY2D) 2943delG mutation in Leber congenital amaurosis pedigrees of Finnish origin
    • Hanein S., et al. Evidence of a founder effect for the RETGC1 (GUCY2D) 2943delG mutation in Leber congenital amaurosis pedigrees of Finnish origin. Hum. Mutat. 20:2002;322-323.
    • (2002) Hum. Mutat. , vol.20 , pp. 322-323
    • Hanein, S.1
  • 14
    • 0031255068 scopus 로고    scopus 로고
    • Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy
    • Gu S., et al. Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. Nat. Genet. 17:1997;194-197.
    • (1997) Nat. Genet. , vol.17 , pp. 194-197
    • Gu, S.1
  • 15
    • 0034973574 scopus 로고    scopus 로고
    • Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy
    • Thompson D.A., et al. Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy. Nat. Genet. 28:2001;123-124.
    • (2001) Nat. Genet. , vol.28 , pp. 123-124
    • Thompson, D.A.1
  • 16
    • 0034964652 scopus 로고    scopus 로고
    • Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene
    • den Hollander A.I., et al. Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. Am. J. Hum. Genet. 69:2001;198-203.
    • (2001) Am. J. Hum. Genet. , vol.69 , pp. 198-203
    • Den Hollander, A.I.1
  • 17
    • 0033862099 scopus 로고    scopus 로고
    • Early-onset severe rod-cone dystrophy in young children with RPE65 mutations
    • Lorenz B., et al. Early-onset severe rod-cone dystrophy in young children with RPE65 mutations. Invest. Ophthalmol. Vis. Sci. 41:2000;2735-2742.
    • (2000) Invest. Ophthalmol. Vis. Sci. , vol.41 , pp. 2735-2742
    • Lorenz, B.1
  • 18
    • 0041705916 scopus 로고    scopus 로고
    • An unusual retinal vascular morphology in connection with a novel AIPL1 mutation in Leber's congenital amaurosis
    • Heegaard S., et al. An unusual retinal vascular morphology in connection with a novel AIPL1 mutation in Leber's congenital amaurosis. Br. J. Ophthalmol. 87:2003;980-983.
    • (2003) Br. J. Ophthalmol. , vol.87 , pp. 980-983
    • Heegaard, S.1
  • 19
    • 1142303395 scopus 로고    scopus 로고
    • Morphological changes at the photoreceptor cell outer segments and synapses in a 26-week fetus carrying the GUCY2D mutation
    • Porto F.B.O., Perrault I. Morphological changes at the photoreceptor cell outer segments and synapses in a 26-week fetus carrying the GUCY2D mutation. Invest. Ophthalmol. Vis. Sci. 42:2001;S363.
    • (2001) Invest. Ophthalmol. Vis. Sci. , vol.42 , pp. 363
    • Porto, F.B.O.1    Perrault, I.2
  • 20
    • 0036632603 scopus 로고    scopus 로고
    • Prenatal human ocular degeneration occurs in Leber's congenital amaurosis (LCA2)
    • Porto F.B., et al. Prenatal human ocular degeneration occurs in Leber's congenital amaurosis (LCA2). J. Gene Med. 4:2002;390-396.
    • (2002) J. Gene Med. , vol.4 , pp. 390-396
    • Porto, F.B.1
  • 21
    • 0037166342 scopus 로고    scopus 로고
    • Recovery of visual functions in mouse model of Leber congenital amaurosis
    • van Hooser J.P., et al. Recovery of visual functions in mouse model of Leber congenital amaurosis. J. Biol. Chem. 277:2002;19173-19182.
    • (2002) J. Biol. Chem. , vol.277 , pp. 19173-19182
    • Van Hooser, J.P.1
  • 22
    • 0035032662 scopus 로고    scopus 로고
    • Gene therapy restores vision in a canine model of childhood blindness
    • Acland G.M., et al. Gene therapy restores vision in a canine model of childhood blindness. Nat. Genet. 28:2001;92-95.
    • (2001) Nat. Genet. , vol.28 , pp. 92-95
    • Acland, G.M.1
  • 23
    • 0041312614 scopus 로고    scopus 로고
    • Gene transfer in the RPE65 null mutation dog: Relationship between construct volume, visual behavior and electroretinographic (ERG) results
    • Ford M., et al. Gene transfer in the RPE65 null mutation dog: relationship between construct volume, visual behavior and electroretinographic (ERG) results. Doc. Ophthalmol. 107:2003;79-86.
    • (2003) Doc. Ophthalmol. , vol.107 , pp. 79-86
    • Ford, M.1
  • 24
    • 0037379354 scopus 로고    scopus 로고
    • Functional and structural recovery of the retina after gene therapy in the RPE65 null mutation dog
    • Narfström K., et al. Functional and structural recovery of the retina after gene therapy in the RPE65 null mutation dog. Invest. Ophthalmol. Vis. Sci. 44:2003;1663-1672.
    • (2003) Invest. Ophthalmol. Vis. Sci. , vol.44 , pp. 1663-1672
    • Narfström, K.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.