{
  "abstract": "Sickle cell retinopathy (SCR) is the most important ocular manifestation in sickle cell disease (SCD). Retinal tissue is highly sensible to vaso-occlusion and hypoxia observed in SCR pathophysiology, with consequent vessel remodeling and ultimately neovascularization in its proliferative form. Severe cases are followed by vitreous hemorrhage and retinal detachment, with 10-20% of vision loss in affected eyes. Current treatment options such as anti-VEGF (Vascular Endothelial Growth Factor) injections and laser photocoagulation are based on other proliferative retinopathies, without pre-clinical and clinical studies specific for SCR. To gain insights into disease-associated molecular pathways and to support the identification of candidate biomarkers and therapeutic targets, we performed comparative proteomic analysis in retinas of Townes HbSS mice, a humanized mouse model of sickle cell anemia (SCA), and C57BL/6J as controls. Blood hematological and metabolic features, retinal activity, and morphology were characterized. Comparative label-free proteomic analysis of retinas from Townes HbSS (N = 5) and control (N = 7) groups was performed in a LTQ Orbitrap Velos equipment, followed by functional enrichment and interaction analysis. The Townes HbSS group presented blood parameters consistent with the SCA phenotype, and retinal degeneration was indicated by functional and morphological alterations in external layers. Pathways of energetic metabolism and phototransduction were enriched among the downregulated proteins, and the molecular downregulation profile of Cnga1 and Slc24a1, related to photoreceptor activation, was validated by RT-qPCR. These findings highlight hypoxia-associated molecular adaptations in metabolic respiration and phototransduction linked to retinal degeneration. Taken together, our results contribute to a more comprehensive characterization of the molecular landscape underlying sickle cell retinopathy.",
  "abstract_shown": true,
  "affiliations": [
    "Laboratório de Estudos em Genética Humana, Centro de Biologia Molecular e Engenharia Genética (CBMEG), Universidade Estadual de Campinas - UNICAMP, Campinas, Brazil.",
    "Department of Ophthalmology, Semmelweis University, Budapest, Hungary.",
    "Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.",
    "Université Paris-Saclay, CNRS, Institut des Neurosciences Paris-Saclay, Saclay, France.",
    "Departamento de Psicologia Experimental, Universidade de São Paulo, São Paulo, Brazil.",
    "Centro de Hematologia e Hemoterapia, Universidade Estadual de Campinas - UNICAMP, Campinas, Brazil."
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 12,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Júlia Nicoliello Pereira de Castro"
    },
    {
      "affs": [
        0
      ],
      "name": "Ana Rafaela Carvalho Monte"
    },
    {
      "affs": [
        0
      ],
      "name": "Ana Carolina Rodrigues de Oliveira"
    },
    {
      "affs": [
        0
      ],
      "name": "Julia Dezordi Acacio"
    },
    {
      "affs": [
        0
      ],
      "name": "Thiago Adalton Rosa Rodrigues"
    },
    {
      "affs": [
        1,
        2
      ],
      "name": "Mirella Telles Salgueiro Barboni"
    },
    {
      "affs": [
        3,
        4
      ],
      "name": "André Maurício Passos Liber"
    },
    {
      "affs": [
        4
      ],
      "name": "Daniela Maria Oliveira Bonci"
    },
    {
      "affs": [
        4
      ],
      "name": "Dora Fix Ventura"
    },
    {
      "affs": [
        5
      ],
      "name": "Fernando Ferreira Costa"
    },
    {
      "affs": [
        0
      ],
      "name": "Ana Carolina Lima Camargo"
    },
    {
      "affs": [
        0
      ],
      "name": "Mônica Barbosa de Melo"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/1n2sxbzbfnc4w.bib",
  "cited_by": 0,
  "doi": "10.3389/ebm.2026.11228",
  "fulltext_url": "https://europepmc.org/articles/PMC13713435",
  "id": "1n2sxbzbfnc4w",
  "issns": [
    "1535-3702",
    "1535-3699"
  ],
  "landing_url": "https://europepmc.org/article/MED/42952744",
  "language": "eng",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Original Research"
    ],
    [
      "openalex",
      "2716|Hemoglobinopathies and Related Disorders"
    ]
  ],
  "openalex": "W7221763641",
  "pdf_url": "https://europepmc.org/articles/PMC13713435?pdf=render",
  "pmcid": "PMC13713435",
  "pmid": "42952744",
  "published": "2026-10-14",
  "publisher": "Frontiers Media SA",
  "ris": "https://research.draconitic.com/paper/1n2sxbzbfnc4w.ris",
  "sources": [
    {
      "first_seen": "2026-10-31T00:20:41Z",
      "native_id": "MED:42952744",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42952744"
    },
    {
      "first_seen": "2026-10-31T12:23:59Z",
      "native_id": "PMC13713435",
      "source": "pmc",
      "url": "https://doi.org/10.3389/ebm.2026.11228"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2716|Hemoglobinopathies and Related Disorders",
      "subfield": "human-genetics"
    }
  ],
  "title": "Sickle cell retinopathy molecular investigation through proteomic analysis of Townes HbSS mice retinas.",
  "title_text": "Sickle cell retinopathy molecular investigation through proteomic analysis of Townes HbSS mice retinas.",
  "type": "peer-reviewed",
  "updated_at": "2026-11-01T12:21:06Z",
  "url": "https://research.draconitic.com/paper/1n2sxbzbfnc4w",
  "venue": "Experimental biology and medicine (Maywood, N.J.)",
  "versions": []
}