254 related articles for article (PubMed ID: 16410831)
1. Independent degeneration of photoreceptors and retinal pigment epithelium in conditional knockout mouse models of choroideremia.
Tolmachova T; Anders R; Abrink M; Bugeon L; Dallman MJ; Futter CE; Ramalho JS; Tonagel F; Tanimoto N; Seeliger MW; Huxley C; Seabra MC
J Clin Invest; 2006 Feb; 116(2):386-94. PubMed ID: 16410831
[TBL] [Abstract][Full Text] [Related]
2. Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia.
Syed N; Smith JE; John SK; Seabra MC; Aguirre GD; Milam AH
Ophthalmology; 2001 Apr; 108(4):711-20. PubMed ID: 11297488
[TBL] [Abstract][Full Text] [Related]
3. Retinal pigment epithelium defects accelerate photoreceptor degeneration in cell type-specific knockout mouse models of choroideremia.
Tolmachova T; Wavre-Shapton ST; Barnard AR; MacLaren RE; Futter CE; Seabra MC
Invest Ophthalmol Vis Sci; 2010 Oct; 51(10):4913-20. PubMed ID: 20445111
[TBL] [Abstract][Full Text] [Related]
4. Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations.
Jacobson SG; Cideciyan AV; Sumaroka A; Aleman TS; Schwartz SB; Windsor EA; Roman AJ; Stone EM; MacDonald IM
Invest Ophthalmol Vis Sci; 2006 Sep; 47(9):4113-20. PubMed ID: 16936131
[TBL] [Abstract][Full Text] [Related]
5. Noncell-autonomous photoreceptor degeneration in a zebrafish model of choroideremia.
Krock BL; Bilotta J; Perkins BD
Proc Natl Acad Sci U S A; 2007 Mar; 104(11):4600-5. PubMed ID: 17360570
[TBL] [Abstract][Full Text] [Related]
6. Reduced Retinal Pigment Epithelial Autophagy Due to Loss of Rab12 Prenylation in a Human iPSC-RPE Model of Choroideremia.
Raeker MÖ; Perera ND; Karoukis AJ; Chen L; Feathers KL; Ali RR; Thompson DA; Fahim AT
Cells; 2024 Jun; 13(12):. PubMed ID: 38920696
[TBL] [Abstract][Full Text] [Related]
7. CHM/REP1 cDNA delivery by lentiviral vectors provides functional expression of the transgene in the retinal pigment epithelium of choroideremia mice.
Tolmachova T; Tolmachov OE; Wavre-Shapton ST; Tracey-White D; Futter CE; Seabra MC
J Gene Med; 2012 Mar; 14(3):158-68. PubMed ID: 22228595
[TBL] [Abstract][Full Text] [Related]
8. Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase.
Esposito G; De Falco F; Tinto N; Testa F; Vitagliano L; Tandurella IC; Iannone L; Rossi S; Rinaldi E; Simonelli F; Zagari A; Salvatore F
Hum Mutat; 2011 Dec; 32(12):1460-9. PubMed ID: 21905166
[TBL] [Abstract][Full Text] [Related]
9. Single choroideremia gene in nonmammalian vertebrates explains early embryonic lethality of the zebrafish model of choroideremia.
Moosajee M; Tulloch M; Baron RA; Gregory-Evans CY; Pereira-Leal JB; Seabra MC
Invest Ophthalmol Vis Sci; 2009 Jun; 50(6):3009-16. PubMed ID: 19117920
[TBL] [Abstract][Full Text] [Related]
10. Pathogenicity of a novel missense variant associated with choroideremia and its impact on gene replacement therapy.
Torriano S; Erkilic N; Faugère V; Damodar K; Hamel CP; Roux AF; Kalatzis V
Hum Mol Genet; 2017 Sep; 26(18):3573-3584. PubMed ID: 28911202
[TBL] [Abstract][Full Text] [Related]
11. Chronically shortened rod outer segments accompany photoreceptor cell death in Choroideremia.
Meschede IP; Burgoyne T; Tolmachova T; Seabra MC; Futter CE
PLoS One; 2020; 15(11):e0242284. PubMed ID: 33201897
[TBL] [Abstract][Full Text] [Related]
12. Choroideremia: molecular mechanisms and therapies.
Sarkar H; Moosajee M
Trends Mol Med; 2022 May; 28(5):378-387. PubMed ID: 35341685
[TBL] [Abstract][Full Text] [Related]
13. Organization of the Rab-GDI/CHM superfamily: the functional basis for choroideremia disease.
Alory C; Balch WE
Traffic; 2001 Aug; 2(8):532-43. PubMed ID: 11489211
[TBL] [Abstract][Full Text] [Related]
14. Conditional ablation of the choroideremia gene causes age-related changes in mouse retinal pigment epithelium.
Wavre-Shapton ST; Tolmachova T; Lopes da Silva M; Futter CE; Seabra MC
PLoS One; 2013; 8(2):e57769. PubMed ID: 23460904
[TBL] [Abstract][Full Text] [Related]
15. Functional expression of Rab escort protein 1 following AAV2-mediated gene delivery in the retina of choroideremia mice and human cells ex vivo.
Tolmachova T; Tolmachov OE; Barnard AR; de Silva SR; Lipinski DM; Walker NJ; Maclaren RE; Seabra MC
J Mol Med (Berl); 2013 Jul; 91(7):825-37. PubMed ID: 23756766
[TBL] [Abstract][Full Text] [Related]
16. Rab escort protein 1 (REP1) in intracellular traffic: a functional and pathophysiological overview.
Preising M; Ayuso C
Ophthalmic Genet; 2004 Jun; 25(2):101-10. PubMed ID: 15370541
[TBL] [Abstract][Full Text] [Related]
17. Loss of REP1 impacts choroidal melanogenesis and vasculogenesis in choroideremia.
Sarkar H; Tracey-White D; Hagag AM; Burgoyne T; Nair N; Jensen LD; Edwards MM; Moosajee M
Biochim Biophys Acta Mol Basis Dis; 2024 Feb; 1870(2):166963. PubMed ID: 37989423
[TBL] [Abstract][Full Text] [Related]
18. Prenylation of Rab GTPases: molecular mechanisms and involvement in genetic disease.
Pereira-Leal JB; Hume AN; Seabra MC
FEBS Lett; 2001 Jun; 498(2-3):197-200. PubMed ID: 11412856
[TBL] [Abstract][Full Text] [Related]
19. Stop mutations in exon 6 of the choroideremia gene, CHM, associated with preservation of the electroretinogram.
Francis PJ; Fishman GA; Trzupek KM; MacDonald IM; Stone EM; Weleber RG
Arch Ophthalmol; 2005 Aug; 123(8):1146-9. PubMed ID: 16087855
[No Abstract] [Full Text] [Related]
20. Use of induced pluripotent stem cell models to probe the pathogenesis of Choroideremia and to develop a potential treatment.
Duong TT; Vasireddy V; Ramachandran P; Herrera PS; Leo L; Merkel C; Bennett J; Mills JA
Stem Cell Res; 2018 Mar; 27():140-150. PubMed ID: 29414605
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
