{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["McCullough KT"],"funding":["NEI NIH HHS"],"pagination":["571-589"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6534089"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["30(5)"],"pubmed_abstract":["Mutations in <i>GUCY2D</i>, the gene encoding retinal guanylate cyclase-1 (retGC1), are the leading cause of autosomal dominant cone-rod dystrophy (CORD6). Significant progress toward clinical application of gene replacement therapy for Leber congenital amaurosis (LCA) due to recessive mutations in <i>GUCY2D</i> (LCA1) has been made, but a different approach is needed to treat CORD6 where gain of function mutations cause dysfunction and dystrophy. The CRISPR/Cas9 gene editing system efficiently disrupts genes at desired loci, enabling complete gene knockout or homology directed repair. Here, adeno-associated virus (AAV)-delivered CRISPR/Cas9 was used specifically to edit/disrupt this gene's early coding sequence in mouse and macaque photoreceptors <i>in vivo</i>, thereby knocking out retGC"],"journal":["Human gene therapy"],"pubmed_title":["Somatic Gene Editing of <i>GUCY2D</i> by AAV-CRISPR/Cas9 Alters Retinal Structure and Function in Mouse and Macaque."],"pmcid":["PMC6534089"],"funding_grant_id":["R01 EY025555","T32 EY007132","R01 EY024280","P30 EY003039"],"pubmed_authors":["McCullough KT","Gloskowski S","Boye SE","Peterson JJ","Samuelsson S","Jiang H","Calabro K","Gamlin PD","Witherspoon CD","Chakraborty D","Fajardo D","Strang CE","Maeder ML","Boye SL","Haskett S"],"additional_accession":[]},"is_claimable":false,"name":"Somatic Gene Editing of <i>GUCY2D</i> by AAV-CRISPR/Cas9 Alters Retinal Structure and Function in Mouse and Macaque.","description":"Mutations in <i>GUCY2D</i>, the gene encoding retinal guanylate cyclase-1 (retGC1), are the leading cause of autosomal dominant cone-rod dystrophy (CORD6). Significant progress toward clinical application of gene replacement therapy for Leber congenital amaurosis (LCA) due to recessive mutations in <i>GUCY2D</i> (LCA1) has been made, but a different approach is needed to treat CORD6 where gain of function mutations cause dysfunction and dystrophy. The CRISPR/Cas9 gene editing system efficiently disrupts genes at desired loci, enabling complete gene knockout or homology directed repair. Here, adeno-associated virus (AAV)-delivered CRISPR/Cas9 was used specifically to edit/disrupt this gene's early coding sequence in mouse and macaque photoreceptors <i>in vivo</i>, thereby knocking out retGC","dates":{"release":"2019-01-01T00:00:00Z","publication":"2019 May","modification":"2026-05-04T23:35:27.042Z","creation":"2021-02-20T09:04:20Z"},"accession":"S-EPMC6534089","cross_references":{"pubmed":["30358434"],"doi":["10.1089/hum.2018.193"]}}