{
    "abstract": "Hereditary-Motor-Neuropathies (dHMNs) are clinically and genetically heterogeneous neurological disorders characterized by degeneration of peripheral motoneurons. We previously identified two sigma-1 receptor (Sigma-1R) variants (p.E138Q; p.E150K) in dHMN Italian patients that behave as \"loss-of-function\" mutations in neuroblastoma cell lines. Here, we characterize the functional effects of Sigma-1R mutation in primary fibroblasts from homozygous patients bearing the E150K mutation, and matched controls, by performing biochemical, gene expression, immunofluorescence and Ca",
    "authors": [
        {
            "affiliation": "Laboratory for Genetics of Mitochondrial Disorders, UMR 1163, Institut Imagine, Universit\u00e9 de Paris, Paris, France.",
            "firstname": "Sofia",
            "initials": "S",
            "lastname": "Zanin"
        },
        {
            "affiliation": "Neuroscience Institute, Italian National Research Council CNR, Padua, Italy.\nDepartment of Biomedical Sciences, University of Padua, Padua, Italy.",
            "firstname": "Francesco",
            "initials": "F",
            "lastname": "Ciscato"
        },
        {
            "affiliation": "Center for Neuromuscular and Neurological Rare Diseases, S. Camillo Forlanini Hospital, Rome, Italy.",
            "firstname": "Antonio",
            "initials": "A",
            "lastname": "Petrucci"
        },
        {
            "affiliation": "Medical Genetics Section, Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy.",
            "firstname": "Annalisa",
            "initials": "A",
            "lastname": "Botta"
        },
        {
            "affiliation": "Institut de Recherche de Chimie, Chimie ParisTech, PSL University, CNRS, Paris, France.",
            "firstname": "Federico",
            "initials": "F",
            "lastname": "Chiossi"
        },
        {
            "affiliation": "Department of Biology, University of Padua, Padua, Italy.",
            "firstname": "Giovanni",
            "initials": "G",
            "lastname": "Vazza"
        },
        {
            "affiliation": "Department of Biomedical Sciences, University of Padua, Padua, Italy.",
            "firstname": "Rosario",
            "initials": "R",
            "lastname": "Rizzuto"
        },
        {
            "affiliation": "Neuroscience Institute, Italian National Research Council CNR, Padua, Italy. giorgia.pallafacchina@unipd.it.\nDepartment of Biomedical Sciences, University of Padua, Padua, Italy. giorgia.pallafacchina@unipd.it.",
            "firstname": "Giorgia",
            "initials": "G",
            "lastname": "Pallafacchina"
        }
    ],
    "conclusions": null,
    "copyrights": "\u00a9 2025. The Author(s).",
    "doi": "10.1007/s00018-025-05676-y",
    "journal": "Cellular and molecular life sciences : CMLS",
    "keywords": [
        "Ca2+ signalling",
        "Cellular proteostasis",
        "ER-mitochondria contacts",
        "Hereditary neuropathies",
        "Sigma-1R"
    ],
    "methods": null,
    "publication_date": "2025-04-09",
    "pubmed_id": "40202561\n17981125\n18539593\n15277583\n23102998\n23332758\n10922005\n27069021\n22844454\n8755605\n27042935\n28881650\n28315279\n10754008\n35886921\n24755275\n21031579\n21842496\n24684794\n27821430\n24313828\n25964330\n26205306\n31551669\n23458708\n23233788\n29129596\n39800452\n26078401\n27629094\n27402882\n28622300\n29115704\n30079398\n31511340\n32600828\n32298515\n32796276\n31324122\n30311446\n28503617\n10666505\n11149946\n29229997\n20193653\n31508418\n25678561\n25704016\n23314020\n32457508\n24642269\n30555683\n18641291\n22952230\n24227730\n2163857\n32766245\n32138899\n33117189\n26467159\n10869377\n26811538\n33499031\n33020464\n22152301\n19268425\n35203354\n34206832\n26206091\n22743772\n34686857\n30674015\n34161774\n28099845",
    "results": null,
    "title": "Mutated sigma-1R disrupts cell homeostasis in dHMN patient cells.",
    "xml": "<Element 'PubmedArticle' at 0x788503d1b3d0>"
}