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with gene augmentation as keyword
Sinha, Divya Steyer, Benjamin Shahi, Pawan K. Mueller, Katherine P. Valiauga, Rasa Edwards, Kimberly L. Bacig, Cole Steltzer, Stephanie S. Srinivasan, Sandhya Abdeen, Amr
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Published in
American Journal of Human Genetics
Dominantly inherited disorders are not typically considered to be therapeutic candidates for gene augmentation. Here, we utilized induced pluripotent stem cell-derived retinal pigment epithelium (iPSC-RPE) to test the potential of gene augmentation to treat Best disease, a dominant macular dystrophy caused by over 200 missense mutations in BEST1 . ...
Quinn, Peter M.J. Wijnholds, Jan
Published in
Genes
The Crumbs complex has prominent roles in the control of apical cell polarity, in the coupling of cell density sensing to downstream cell signaling pathways, and in regulating junctional structures and cell adhesion. The Crumbs complex acts as a conductor orchestrating multiple downstream signaling pathways in epithelial and neuronal tissue develop...
Giacalone, Joseph C Andorf, Jeaneen L Zhang, Qihong Burnight, Erin R Ochoa, Dalyz Reutzel, Austin J Collins, Malia M Sheffield, Val C Mullins, Robert F Han, Ian C
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Published in
Human gene therapy
In a screen of 1,000 consecutively ascertained families, we recently found that mutations in the gene RPGR are the third most common cause of all inherited retinal disease. As the two most frequent disease-causing genes, ABCA4 and USH2A, are far too large to fit into clinically relevant adeno-associated virus (AAV) vectors, RPGR is an obvious early...
Arbabi, Amirmohsen Liu, Amelia Ameri, Hossein
Published in
Journal of ocular pharmacology and therapeutics : the official journal of the Association for Ocular Pharmacology and Therapeutics
Inherited retinal degeneration (IRD), a group of rare retinal diseases that primarily lead to the progressive loss of retinal photoreceptor cells, can be inherited in all modes of inheritance: autosomal dominant (AD), autosomal recessive (AR), X-linked (XL), and mitochondrial. Based on the pattern of inheritance of the dystrophy, retinal gene thera...