{
  "abstract": "Rod-cone dystrophy (RCD) comprises genetic conditions where rod photoreceptor degeneration leads to cone loss, causing progressive vision loss. We investigated the phototransduction cascade in degenerating cones using two RCD mouse models and found that opsin and arrestin expression continues in the cell body during outer segment degeneration. Based on this observation, we explored reactivating cones through G-protein-coupled inwardly rectifying K (GIRK) channel expression. Using adeno-associated viral delivery of GIRK channels, we achieved improved visual function in both mouse models. Additionally, we examined human tissue from late-stage RCD patients and confirmed the presence of cone opsin and cone arrestin expression, supporting the potential therapeutic application of this approach. This GIRK-channel-based strategy offers a promising method to preserve high-quality vision in RCD patients, regardless of their specific genetic mutation.",
  "abstract_shown": true,
  "affiliations": [],
  "article_type": null,
  "arxiv": null,
  "author_total": 19,
  "authors": [
    {
      "name": "Cardillia-Joe Simon"
    },
    {
      "name": "Hanen Khabou"
    },
    {
      "name": "Antoine Chaffiol"
    },
    {
      "name": "Marco Rucli"
    },
    {
      "name": "Marion Finzi"
    },
    {
      "name": "Nat Norberg"
    },
    {
      "name": "Anaïs Grimaud"
    },
    {
      "name": "Brix Mücher"
    },
    {
      "name": "Mélissa Desrosiers"
    },
    {
      "name": "Serge Sancho"
    },
    {
      "name": "Vera Lucia Bonilha"
    },
    {
      "name": "Kate Grieve"
    },
    {
      "name": "Jens Duebel"
    },
    {
      "name": "Michel Paques"
    },
    {
      "name": "Serge Picaud"
    },
    {
      "name": "José Alain Sahel"
    },
    {
      "name": "Isabelle Audo"
    },
    {
      "name": "Stefan Herlitze"
    },
    {
      "name": "Deniz Dalkara"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/erx9kjawbvtxj.bib",
  "cited_by": 0,
  "doi": "10.1016/j.isci.2025.112106",
  "fulltext_url": null,
  "id": "erx9kjawbvtxj",
  "issns": [
    "2589-0042"
  ],
  "landing_url": "https://hal.science/hal-05797284v1",
  "language": "en",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "journal",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "hal",
      "0.sdv"
    ],
    [
      "openalex",
      "1312|Retinal Development and Disorders"
    ]
  ],
  "openalex": "W4407928849",
  "pdf_url": null,
  "pmcid": null,
  "pmid": null,
  "published": "2026-10-13",
  "publisher": "Cell Press, Elsevier [2018-....]",
  "ris": "https://research.draconitic.com/paper/erx9kjawbvtxj.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:17:56Z",
      "native_id": "hal-05797284",
      "source": "hal",
      "url": "https://hal.science/hal-05797284v1"
    }
  ],
  "subjects": [
    {
      "field": "biochemistry",
      "origin": "openalex:1312|Retinal Development and Disorders",
      "subfield": "molecular-biology"
    }
  ],
  "title": "Reactivating the phototransduction cascade with a mutation agnostic gene therapy preserves vision in rod-cone dystrophies",
  "title_text": "Reactivating the phototransduction cascade with a mutation agnostic gene therapy preserves vision in rod-cone dystrophies",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:17:56Z",
  "url": "https://research.draconitic.com/paper/erx9kjawbvtxj",
  "venue": "iScience",
  "versions": []
}