RPGR and RP2
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RPGR and RP2 : targets for the treatment of X-linked retinitis pigmentosa? / Veltel, Stefan; Wittinghofer, Alfred.
In: EXPERT OPIN THER TAR, Vol. 13, No. 10, 01.10.2009, p. 1239-51.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - RPGR and RP2
T2 - targets for the treatment of X-linked retinitis pigmentosa?
AU - Veltel, Stefan
AU - Wittinghofer, Alfred
PY - 2009/10/1
Y1 - 2009/10/1
N2 - Retinitis pigmentosa is the most important hereditary eye disease and there is currently no cure available. Although mutations were found in more than 40 genes in patients with retinitis pigmentosa, only two genes have thus far been found to be responsible for one of the most severe forms of the disease, X-linked retinitis pigmentosa. In this review, we highlight the current knowledge about the two gene products RPGR and RP2 and try to link genetic data from patients with functional data on the corresponding proteins. Based on the fact that recent gene therapeutic approaches for eye diseases are at a very promising stage, we discuss the potential of RPGR and RP2 as drug targets to treat retinitis pigmentosa.
AB - Retinitis pigmentosa is the most important hereditary eye disease and there is currently no cure available. Although mutations were found in more than 40 genes in patients with retinitis pigmentosa, only two genes have thus far been found to be responsible for one of the most severe forms of the disease, X-linked retinitis pigmentosa. In this review, we highlight the current knowledge about the two gene products RPGR and RP2 and try to link genetic data from patients with functional data on the corresponding proteins. Based on the fact that recent gene therapeutic approaches for eye diseases are at a very promising stage, we discuss the potential of RPGR and RP2 as drug targets to treat retinitis pigmentosa.
KW - Eye Proteins
KW - Genetic Diseases, X-Linked
KW - Genetic Predisposition to Disease
KW - Genetic Therapy
KW - Humans
KW - Intracellular Signaling Peptides and Proteins
KW - Membrane Proteins
KW - Retinitis Pigmentosa
U2 - 10.1517/14728220903225016
DO - 10.1517/14728220903225016
M3 - SCORING: Journal article
C2 - 19702441
VL - 13
SP - 1239
EP - 1251
JO - EXPERT OPIN THER TAR
JF - EXPERT OPIN THER TAR
SN - 1472-8222
IS - 10
ER -