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Tanya Tolmachova, Ross Anders, Magnus Abrink, Laurence Bugeon, Margaret J. Dallman, Clare E. Futter, José S. Ramalho, Felix Tonagel, Naoyuki Tanimoto, Mathias W. Seeliger, Clare Huxley, Miguel C. Seabra
J Clin Invest. 2006;
116(2):386
doi:10.1172/JCI26617
Abstract |
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C
horoideremia (CHM) is an X-linked degeneration of the retinal pigment epithelium (RPE), photoreceptors, and choroid, caused by loss of function of the CHM/REP1 gene. REP1 is involved in lipid modification (prenylation) of Rab GTPases, key regulators of intracellular vesicular transport and organelle dynamics. To study the pathogenesis of CHM and to develop a model for assessing gene therapy, we have created a conditional mouse knockout of the Chm gene. Heterozygous-null females exhibit characteristic hallmarks of CHM: progressive degeneration of the photoreceptors, patchy depigmentation of the RPE, and Rab prenylation defects. Using tamoxifen-inducible and tissue-specific Cre expression in combination with floxed Chm alleles, we show that CHM pathogenesis involves independently triggered degeneration of photoreceptors and the RPE, associated with different subsets of defective Rabs.
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(13)
| Title and authors |
Publication |
Year |
CHM/REP1 cDNA delivery by lentiviral vectors provides functional expression of the transgene in the retinal pigment epithelium of choroideremia mice : Lentiviral gene therapy in a mouse model of Choroideremia
Tanya Tolmachova, Oleg E. Tolmachov, Silene T. Wavre-Shapton, Dhani Tracey-White, Clare E. Futter, Miguel C. Seabra
|
J. Gene Med.
|
2012 |
Choroideremia: A review of general findings and pathogenesis
Razek Georges Coussa, Elias I. Traboulsi
|
Ophthalmic Genet
|
2011 |
Regulation of polyisoprenylated methylated protein methyl esterase by polyunsaturated fatty acids and prostaglandins
Felix Amissah, Shalina Taylor, Randolph Duverna, Lambert T. Ayuk-Takem, Nazarius S. Lamango
|
Eur. J. Lipid Sci. Technol.
|
2011 |
Choroideremia: Effect of age on visual acuity in patients and female carriers
Razek Georges Coussa, James Kim, Elias I. Traboulsi
|
Ophthalmic Genet
|
2011 |
The molecular basis of human retinal and vitreoretinal diseases
Wolfgang Berger, Barbara Kloeckener-Gruissem, John Neidhardt
|
Progress in Retinal and Eye Research
|
2010 |
Rapid Multilabel Detection of Geranylgeranylated Proteins by Using Bioorthogonal Ligation Chemistry
Alexandra F. H. Berry, William P. Heal, Abul K. Tarafder, Tanya Tolmachova, Rudi A. Baron, Miguel C. Seabra, Edward W. Tate
|
ChemBioChem
|
2010 |
Fundus Autofluorescence in Carriers of Choroideremia and Correlation with Electrophysiologic and Psychophysical Data
Markus N. Preising, Erika Wegscheider, Christoph Friedburg, Charlotte M. Poloschek, Bettina K. Wabbels, Birgit Lorenz
|
Ophthalmology
|
2009 |
A novel mutation (967−970+2)delAAAGGT in the choroideremia gene found in a Japanese family and related clinical findings
Yutaka Iino, Takuro Fujimaki, Keiko Fujiki, Akira Murakami
|
Jpn J Ophthalmol
|
2008 |
Translational bypass of nonsense mutations in zebrafish rep1, pax2.1 and lamb1 highlights a viable therapeutic option for untreatable genetic eye disease
M. Moosajee, K. Gregory-Evans, C. D. Ellis, M. C. Seabra, C. Y. Gregory-Evans
|
Human Molecular Genetics
|
2008 |
Noncell-autonomous photoreceptor degeneration in a zebrafish model of choroideremia.
Bryan L Krock, Joseph Bilotta, Brian D Perkins
|
Proc. Natl. Acad. Sci. U.S.A.
|
2007 |
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