Chapter title |
More Than Meets the Eye: Current Understanding of RPGR Function
|
---|---|
Chapter number | 64 |
Book title |
Retinal Degenerative Diseases
|
Published in |
Advances in experimental medicine and biology, January 2018
|
DOI | 10.1007/978-3-319-75402-4_64 |
Pubmed ID | |
Book ISBNs |
978-3-31-975401-7, 978-3-31-975402-4
|
Authors |
Hemant Khanna |
Abstract |
This article summarizes the recent advances in our understanding of a major retinal disease gene RPGR (retinitis pigmentosa GTPase regulator), mutations in which are associated with majority of X-linked forms of retinal degenerations. A great deal of work has been done to uncover the ciliary localization of RPGR and its interacting proteins in the retina. However, the molecular mechanisms of action of RPGR in the photoreceptors are still unclear. Recent studies have begun to shed light on the intracellular pathways in which RPGR is likely involved. The deregulation of such pathways may underlie the pathogenesis of severe retinal degeneration associated with RPGR. With the recent advances in the gene augmentation therapy for RPGR-associated disease, there is a lot of excitement in the field. Patients with RPGR mutations, however, present with clinically heterogeneous manifestations. It is therefore imperative to examine the function of RPGR in detail, so that we can design patient-oriented therapeutic strategies for this disease. |
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