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.

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@article{080b4baac7b04e38b487ced577963bca,
title = "RPGR and RP2: targets for the treatment of X-linked retinitis pigmentosa?",
abstract = "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.",
keywords = "Eye Proteins, Genetic Diseases, X-Linked, Genetic Predisposition to Disease, Genetic Therapy, Humans, Intracellular Signaling Peptides and Proteins, Membrane Proteins, Retinitis Pigmentosa",
author = "Stefan Veltel and Alfred Wittinghofer",
year = "2009",
month = oct,
day = "1",
doi = "10.1517/14728220903225016",
language = "English",
volume = "13",
pages = "1239--51",
journal = "EXPERT OPIN THER TAR",
issn = "1472-8222",
publisher = "informa healthcare",
number = "10",

}

RIS

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 -