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10.1016/j.stem.2016.03.021 http://scihub22266oqcxt.onion/10.1016/j.stem.2016.03.021 C4899423!4899423 !27151457     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=27151457 &cmd=llinks): Failed to open stream: HTTP request failed! 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Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups |pdf=|usr=}}{{27151457 }} gab.com Text Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups JO: Cell Stem Cell http://www.kidney.de/pget.php?&tw=1&pmid=27151457 #FOAvip Leber congenital amaurosis (LCA) is an inherited retinal dystrophy that causes childhood blindness. Photoreceptors are especially sensitive to an intronic mutation in the cilia-related gene CEP290, which causes missplicing and premature termination, but the basis of this sensitivity is unclear. Here, we generated differentiated photoreceptors in three-dimensional optic cups and retinal pigment epithelium (RPE) from iPSCs with this common CEP290 mutation to investigate disease mechanisms and evaluate candidate therapies. iPSCs differentiated normally into RPE and optic cups, despite abnormal CEP290 splicing and cilia defects. The highest levels of aberrant splicing and cilia defects were observed in optic cups, explaining the retinal-specific manifestation of this CEP290 mutation. Treating optic cups with an antisense morpholino effectively blocked aberrant splicing and restored expression of full-length CEP290, restoring normal cilia-based protein trafficking. These results provide a mechanistic understanding of the retina-specific phenotypes in CEP290 LCA patients and potential strategies for therapeutic intervention. Twit Text FOAVip Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups ????Cell Stem Cell http://www.kidney.de/pget.php?&tw=1&pmid=27151457 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=27151457 #FOAvip English Wikipedia <ref>{{Cite pmid|27151457 }}</ref> Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups #MMPMID27151457 Parfitt DA ; Lane A ; Ramsden CM ; Carr AF ; Munro PM ; Jovanovic K ; Schwarz N ; Kanuga N ; Muthiah MN ; Hull S ; Gallo JM ; da Cruz L ; Moore AT ; Hardcastle AJ ; Coffey PJ ; Cheetham ME Cell Stem Cell 2016[Jun]; 18 (6 ): 769-781 PMID27151457 show ga Leber congenital amaurosis (LCA) is an inherited retinal dystrophy that causes childhood blindness. Photoreceptors are especially sensitive to an intronic mutation in the cilia-related gene CEP290, which causes missplicing and premature termination, but the basis of this sensitivity is unclear. Here, we generated differentiated photoreceptors in three-dimensional optic cups and retinal pigment epithelium (RPE) from iPSCs with this common CEP290 mutation to investigate disease mechanisms and evaluate candidate therapies. iPSCs differentiated normally into RPE and optic cups, despite abnormal CEP290 splicing and cilia defects. The highest levels of aberrant splicing and cilia defects were observed in optic cups, explaining the retinal-specific manifestation of this CEP290 mutation. Treating optic cups with an antisense morpholino effectively blocked aberrant splicing and restored expression of full-length CEP290, restoring normal cilia-based protein trafficking. These results provide a mechanistic understanding of the retina-specific phenotypes in CEP290 LCA patients and potential strategies for therapeutic intervention. |Antigens, Neoplasm/genetics/metabolism [MESH] |Blindness/*pathology/*therapy [MESH] |Cell Cycle Proteins [MESH] |Cell Differentiation/drug effects [MESH] |Cilia/drug effects/metabolism [MESH] |Cytoskeletal Proteins [MESH] |Exons/genetics [MESH] |Eye Proteins/metabolism [MESH] |Fibroblasts/drug effects/metabolism/pathology [MESH] |Humans [MESH] |Induced Pluripotent Stem Cells/*cytology/drug effects/metabolism [MESH] |Inheritance Patterns/*genetics [MESH] |Leber Congenital Amaurosis/pathology [MESH] |Male [MESH] |Morpholinos/pharmacology [MESH] |Neoplasm Proteins/genetics/metabolism [MESH] |Opsins/metabolism [MESH] |Optic Disk/*cytology [MESH] |Organogenesis/drug effects [MESH] |Photoreceptor Cells, Vertebrate/metabolism/pathology/ultrastructure [MESH] |RNA Splicing/drug effects/genetics [MESH] |RNA, Messenger/genetics/metabolism [MESH] |Retinal Pigment Epithelium/drug effects/metabolism/pathology/ultrastructure [MESH]Identification and Correction of Mechanisms Underlying Inherited Blind(epmc).pdf DeepDyve Pubget Overpricing