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We studied dysbindin-1 null mutant mice (Dys<jats:sup>\u2212\/\u2212<\/jats:sup>) to shed light on retinal neurodevelopment defects in HPS-7. We analyzed the expression of a focused set of miRNAs in retina of wild type (WT), Dys<jats:sup>+\/\u2212<\/jats:sup> and Dys<jats:sup>\u2212\/\u2212<\/jats:sup> mice. We also investigated the retinal function of these mice through electroretinography (ERG). We found that miR-101-3p, miR-137, miR-186-5p, miR-326, miR-382-5p and miR-876-5p were up-regulated in Dys<jats:sup>\u2212\/\u2212<\/jats:sup>mice retina. Dys<jats:sup>\u2212\/\u2212<\/jats:sup> mice showed significant increased b-wave in ERG, compared to WT mice. Bioinformatic analysis highlighted that dysregulated miRNAs target synaptic plasticity and dopaminergic signaling pathways, affecting retinal functions of Dys<jats:sup>\u2212\/\u2212<\/jats:sup> mice. Overall, the data indicate potential mechanisms in retinal neurodevelopment of Dys<jats:sup>\u2212\/\u2212<\/jats:sup> mice, which may have translational significance in HSP-7 patients, both in terms of diagnostic\/prognostic biomarkers and novel pharmacological targets.<\/jats:p>","DOI":"10.1038\/s41598-020-60931-5","type":"journal-article","created":{"date-parts":[[2020,3,4]],"date-time":"2020-03-04T11:02:30Z","timestamp":1583319750000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Retinal biomarkers and pharmacological targets for Hermansky-Pudlak syndrome 7"],"prefix":"10.1038","volume":"10","author":[{"given":"Giovanni Luca","family":"Romano","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara Bianca Maria","family":"Platania","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gian Marco","family":"Leggio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebastiano Alfio","family":"Torrisi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salvatore","family":"Giunta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salvatore","family":"Salomone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele","family":"Purrello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Ragusa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6769-4516","authenticated-orcid":false,"given":"Cristina","family":"Barbagallo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank J.","family":"Giblin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosa","family":"Mastrogiacomo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3663-6193","authenticated-orcid":false,"given":"Francesca","family":"Manag\u00f2","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maurizio","family":"Cammalleri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6326-0657","authenticated-orcid":false,"given":"Francesco","family":"Papaleo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filippo","family":"Drago","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudio","family":"Bucolo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,3,4]]},"reference":[{"issue":"115","key":"60931_CR1","doi-asserted-by":"publisher","first-page":"204","DOI":"10.1038\/mp.2009.58","volume":"15","author":"CA Ghiani","year":"2010","unstructured":"Ghiani, C. 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