{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T12:00:31Z","timestamp":1780315231855,"version":"3.54.1"},"reference-count":51,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2019,3,1]],"date-time":"2019-03-01T00:00:00Z","timestamp":1551398400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Human Gene Therapy"],"published-print":{"date-parts":[[2019,3]]},"abstract":"<jats:p>\n                    Hereditary retinal dystrophy is clinically defined as a broad group of chronic and progressive disorders that affect visual function by causing photoreceptor degeneration. Previously, we identified mutations in the gene encoding receptor expression-enhancing protein 6 (REEP6), in individuals with autosomal recessive retinitis pigmentosa (RP), the most common form of inherited retinal dystrophy. One individual was molecularly diagnosed with biallelic\n                    <jats:italic toggle=\"yes\">REEP6<\/jats:italic>\n                    mutations, a missense mutation over a frameshift mutation. In this study, we generated\n                    <jats:italic toggle=\"yes\">Reep6<\/jats:italic>\n                    compound heterozygous mice,\n                    <jats:italic toggle=\"yes\">\n                      Reep6\n                      <jats:sup>L135P\/\u2212<\/jats:sup>\n                    <\/jats:italic>\n                    , which mimic the patient genotype and recapitulate the early-onset retinal degeneration phenotypes observed in the individual with RP. To determine the feasibility of rescuing the\n                    <jats:italic toggle=\"yes\">Reep6<\/jats:italic>\n                    mutant phenotype via gene replacement therapy, we delivered\n                    <jats:italic toggle=\"yes\">Reep6.1<\/jats:italic>\n                    , the mouse retina-specific isoform of\n                    <jats:italic toggle=\"yes\">REEP6<\/jats:italic>\n                    , to photoreceptors of\n                    <jats:italic toggle=\"yes\">Reep6<\/jats:italic>\n                    mutant mice on postnatal day 20. Evaluation of the therapeutic effects 2 months posttreatment showed improvements in the photoresponse as well as preservation of photoreceptor cells. Importantly, guanylyl cyclase 1 (GC1) expression was also restored to the outer segment after treatment. Furthermore, rAAV8-\n                    <jats:italic toggle=\"yes\">Reep6.1<\/jats:italic>\n                    single treatment in\n                    <jats:italic toggle=\"yes\">Reep6<\/jats:italic>\n                    mutant mice 1 year postinjection showed significant improvements in retinal function and morphology, suggesting that the treatment is effective even after a prolonged period. Findings from this study show that gene replacement therapy in the retina with rAAV overexpressing\n                    <jats:italic toggle=\"yes\">Reep6<\/jats:italic>\n                    is effective, preserving photoreceptor function in\n                    <jats:italic toggle=\"yes\">Reep6<\/jats:italic>\n                    mutant mice. These findings provide evidence that rAAV8-based gene therapy can prolong survival of photoreceptors\n                    <jats:italic toggle=\"yes\">in vivo<\/jats:italic>\n                    and can be potentially used as a therapeutic modality for treatment of patients with RP.\n                  <\/jats:p>","DOI":"10.1089\/hum.2018.078","type":"journal-article","created":{"date-parts":[[2018,8,13]],"date-time":"2018-08-13T06:39:07Z","timestamp":1534142347000},"page":"302-315","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":9,"title":["Gene Therapy Rescues Retinal Degeneration in Receptor Expression-Enhancing Protein 6 Mutant Mice"],"prefix":"10.1177","volume":"30","author":[{"given":"Smriti Agrawal","family":"Zaneveld","sequence":"first","affiliation":[{"name":"Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX."},{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aiden","family":"Eblimit","sequence":"additional","affiliation":[{"name":"Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX."},{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qingnan","family":"Liang","sequence":"additional","affiliation":[{"name":"Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX."},{"name":"Department of Biochemistry, Baylor College of Medicine, Houston, TX."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renae","family":"Bertrand","sequence":"additional","affiliation":[{"name":"Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX."},{"name":"Department of Biochemistry, Baylor College of Medicine, Houston, TX."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathaniel","family":"Wu","sequence":"additional","affiliation":[{"name":"Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX."},{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hehe","family":"Liu","sequence":"additional","affiliation":[{"name":"Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX."},{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Quynh","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Baylor College of Medicine, Houston, TX."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacques","family":"Zaneveld","sequence":"additional","affiliation":[{"name":"Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX."},{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keqing","family":"Wang","sequence":"additional","affiliation":[{"name":"Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX."},{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yumei","family":"Li","sequence":"additional","affiliation":[{"name":"Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX."},{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui","family":"Chen","sequence":"additional","affiliation":[{"name":"Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX."},{"name":"Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2019,3,18]]},"reference":[{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.125.2.151"},{"key":"e_1_3_4_3_2","unstructured":"Fahim AT Daiger SP Weleber RG. GeneReviews: nonsyndromic retinitis pigmentosa overview. In: Pagon MP R.A. Adam HH Ardinger SE et al eds. Seattle WA: University of Washington; 1993 [last update: January 19 2017]. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1417\/"},{"key":"e_1_3_4_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx149"},{"key":"e_1_3_4_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.10.008"},{"key":"e_1_3_4_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(06)69740-7"},{"key":"e_1_3_4_7_2","first-page":"S295","article-title":"Data services and software for identifying genes and mutations causing retinal degeneration","volume":"39","author":"Daiger SP","year":"1998","unstructured":"Daiger SP, , Rossiter BJF, , Greenberg J, et al. Data services and software for identifying genes and mutations causing retinal degeneration. 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