1 Ocak 2021 Dergi makalesi Açık Erişim

Wong, Hui Hui; Seet, Sze Hwee; Maier, Michael; Gurel, Ayse; Traspas, Ricardo Moreno; Lee, Cheryl; Zhang, Shan; Talim, Beril; Loh, Abigail Y. T.; Chia, Crystal Y.; Teoh, Tze Shin; Sng, Danielle; Rensvold, Jarred; Unal, Sule; Shishkova, Evgenia; Cepni, Ece; Nathan, Fatima M.; Sirota, Fernanda L.; Liang, Chao; Yarali, Nese; Yarali, Nese

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  "created": "2022-10-07T10:00:50.813910+00:00", 
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    "creators": [
      {
        "affiliation": "ASTAR, Biopolis, Inst Mol & Cell Biol, Singapore 138673, Singapore", 
        "name": "Wong, Hui Hui"
      }, 
      {
        "affiliation": "ASTAR, Biopolis, Inst Mol & Cell Biol, Singapore 138673, Singapore", 
        "name": "Seet, Sze Hwee"
      }, 
      {
        "affiliation": "ASTAR, Lab Human Genet & Therapeut, Biopolis, Genome Inst Singapore, Singapore 138672, Singapore", 
        "name": "Maier, Michael"
      }, 
      {
        "affiliation": "Hacettepe Univ, Fac Med, Dept Med Genet, TR-06230 Ankara, Turkey", 
        "name": "Gurel, Ayse"
      }, 
      {
        "affiliation": "ASTAR, Lab Human Genet & Therapeut, Biopolis, Genome Inst Singapore, Singapore 138672, Singapore", 
        "name": "Traspas, Ricardo Moreno"
      }, 
      {
        "name": "Lee, Cheryl"
      }, 
      {
        "affiliation": "Hacettepe Univ, Fac Med, Dept Med Genet, TR-06230 Ankara, Turkey", 
        "name": "Zhang, Shan"
      }, 
      {
        "affiliation": "Hacettepe Univ, Fac Med, Dept Pediat, Pediat Pathol Unit, TR-06230 Ankara, Turkey", 
        "name": "Talim, Beril"
      }, 
      {
        "affiliation": "ASTAR, Biopolis, Inst Mol & Cell Biol, Singapore 138673, Singapore", 
        "name": "Loh, Abigail Y. T."
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      {
        "affiliation": "ASTAR, Lab Human Genet & Therapeut, Biopolis, Genome Inst Singapore, Singapore 138672, Singapore", 
        "name": "Chia, Crystal Y."
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      {
        "affiliation": "ASTAR, Lab Human Genet & Therapeut, Biopolis, Genome Inst Singapore, Singapore 138672, Singapore", 
        "name": "Teoh, Tze Shin"
      }, 
      {
        "affiliation": "ASTAR, Lab Human Genet & Therapeut, Biopolis, Genome Inst Singapore, Singapore 138672, Singapore", 
        "name": "Sng, Danielle"
      }, 
      {
        "name": "Rensvold, Jarred"
      }, 
      {
        "name": "Unal, Sule"
      }, 
      {
        "name": "Shishkova, Evgenia"
      }, 
      {
        "affiliation": "Koc Univ, Inst Hlth Sci, TR-34010 Istanbul, Turkey", 
        "name": "Cepni, Ece"
      }, 
      {
        "affiliation": "Yale NUS Coll, 12 Coll Ave West, Singapore 138610, Singapore", 
        "name": "Nathan, Fatima M."
      }, 
      {
        "affiliation": "ASTAR, Biopolis, Bioinformat Inst, Singapore 138671, Singapore", 
        "name": "Sirota, Fernanda L."
      }, 
      {
        "affiliation": "Hacettepe Univ, Fac Med, Dept Med Genet, TR-06230 Ankara, Turkey", 
        "name": "Liang, Chao"
      }, 
      {
        "affiliation": "Ankara Child Hlth & Dis Hematol Oncol Training &, TR-06110 Ankara, Turkey", 
        "name": "Yarali, Nese"
      }, 
      {
        "affiliation": "Ankara Child Hlth & Dis Hematol Oncol Training &, TR-06110 Ankara, Turkey", 
        "name": "Yarali, Nese"
      }
    ], 
    "description": "Human C2orf69 is an evolutionarily conserved gene whose function is unknown. Here, we report eight unrelated families from which 20 children presented with a fatal syndrome consisting of severe autoinflammation and progredient leukoencephalopathy with recurrent seizures; 12 of these subjects, whose DNA was available, segregated homozygous loss-of-function C2orf69 variants. C2ORF69 bears homology to esterase enzymes, and orthologs can be found in most eukaryotic genomes, including that of unicellular phytoplankton. We found that endogenous C2ORF69 (1) is loosely bound to mitochondria, (2) affects mitochondrial membrane potential and oxidative respiration in cultured neurons, and (3) controls the levels of the glycogen branching enzyme 1 (GBE1) consistent with a glycogen-storage-associated mitochondriopathy. We show that CRISPR-Cas9-mediated inactivation of zebrafish C2orf69 results in lethality by 8 months of age due to spontaneous epileptic seizures, which is preceded by persistent brain inflammation. Collectively, our results delineate an autoinflammatory Mendelian disorder of C2orf69 deficiency that disrupts the development/homeostasis of the immune and central nervous systems.", 
    "doi": "10.1016/j.ajhg.2021.05.003", 
    "has_grant": false, 
    "journal": {
      "issue": "7", 
      "pages": "1301-1317", 
      "title": "AMERICAN JOURNAL OF HUMAN GENETICS", 
      "volume": "108"
    }, 
    "license": {
      "id": "cc-by"
    }, 
    "publication_date": "2021-01-01", 
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    "resource_type": {
      "subtype": "article", 
      "title": "Dergi makalesi", 
      "type": "publication"
    }, 
    "science_branches": [
      "Di\u011fer"
    ], 
    "title": "Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy"
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