1 Ocak 2014 Dergi makalesi Açık Erişim

Kayman-Kurekci, Gulsum; Talim, Beril; Korkusuz, Petek; Sayar, Nilufer; Sarioglu, Turkan; Oncel, Ibrahim; Sharafi, Parisa; Gundesli, Hulya; Balci-Hayta, Burcu; Purali, Nuhan; Serdaroglu-Oflazer, Piraye; Topaloglu, Haluk; Dincer, Pervin

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    "creators": [
      {
        "affiliation": "Hacettepe Univ, Fac Med, Dept Med Biol, TR-06100 Ankara, Turkey", 
        "name": "Kayman-Kurekci, Gulsum"
      }, 
      {
        "affiliation": "Hacettepe Univ, Fac Med, Pathol Unit, Dept Pediat, TR-06100 Ankara, Turkey", 
        "name": "Talim, Beril"
      }, 
      {
        "affiliation": "Hacettepe Univ, Fac Med, Dept Histol & Embryol, TR-06100 Ankara, Turkey", 
        "name": "Korkusuz, Petek"
      }, 
      {
        "affiliation": "Bilkent Univ, Fac Sci, Dept Mol Biol & Genet, TR-06800 Ankara, Turkey", 
        "name": "Sayar, Nilufer"
      }, 
      {
        "affiliation": "Istanbul Univ, Istanbul Fac Med, Dept Histol & Embryol, TR-34093 Istanbul, Turkey", 
        "name": "Sarioglu, Turkan"
      }, 
      {
        "affiliation": "Hacettepe Univ, Fac Med, Neurol Unit, Dept Pediat, TR-06100 Ankara, Turkey", 
        "name": "Oncel, Ibrahim"
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      {
        "affiliation": "Hacettepe Univ, Fac Med, Dept Med Biol, TR-06100 Ankara, Turkey", 
        "name": "Sharafi, Parisa"
      }, 
      {
        "affiliation": "Hacettepe Univ, Fac Med, Dept Med Biol, TR-06100 Ankara, Turkey", 
        "name": "Gundesli, Hulya"
      }, 
      {
        "affiliation": "Hacettepe Univ, Fac Med, Dept Med Biol, TR-06100 Ankara, Turkey", 
        "name": "Balci-Hayta, Burcu"
      }, 
      {
        "affiliation": "Hacettepe Univ, Fac Med, Dept Biophys, TR-06100 Ankara, Turkey", 
        "name": "Purali, Nuhan"
      }, 
      {
        "affiliation": "Istanbul Univ, Istanbul Fac Med, Dept Neurol, TR-34093 Istanbul, Turkey", 
        "name": "Serdaroglu-Oflazer, Piraye"
      }, 
      {
        "affiliation": "Hacettepe Univ, Fac Med, Neurol Unit, Dept Pediat, TR-06100 Ankara, Turkey", 
        "name": "Topaloglu, Haluk"
      }, 
      {
        "affiliation": "Hacettepe Univ, Fac Med, Dept Med Biol, TR-06100 Ankara, Turkey", 
        "name": "Dincer, Pervin"
      }
    ], 
    "description": "We performed genome-wide homozygosity mapping and mapped a novel myopathic phenotype to chromosomal region 1q25 in a consanguineous family with three affected individuals manifesting proximal and distal weakness and atrophy, rigid spine and contractures of the proximal and distal interphalangeal hand joints. Additionally, cardiomyopathy and respiratory involvement were noted. DNA sequencing of torsinA-interacting protein 1 (TOR1AIP1) gene encoding lamina-associated polypeptide 1B (LAP1B), showed a homozygous c.186delG mutation that causes a frameshift resulting in a premature stop codon (p.E62fsTer25). We observed that expression of LAP1B was absent in the patient skeletal muscle fibres. Ultrastructural examination showed intact sarcomeric organization but alterations of the nuclear envelope including nuclear fragmentation, chromatin bleb formation and naked chromatin. LAP1B is a type-2 integral membrane protein localized in the inner nuclear membrane that binds to both A- and B-type lamins, and is involved in the regulation of torsinA ATPase. Interestingly, luminal domain-like LAP1 (LULL1)-an endoplasmic reticulum-localized partner of torsinA-was overexpressed in the patient's muscle in the absence of LAP1B. Therefore, the findings suggest that LAP1 and LULL1 might have a compensatory effect on each other. This study expands the spectrum of genes associated with nuclear envelopathies and highlights the critical function for LAP 1B in striated muscle. (C) 2014 Elsevier B.V. All rights reserved.", 
    "doi": "10.1016/j.nmd.2014.04.007", 
    "has_grant": false, 
    "journal": {
      "issue": "7", 
      "pages": "624-633", 
      "title": "NEUROMUSCULAR DISORDERS", 
      "volume": "24"
    }, 
    "license": {
      "id": "cc-by"
    }, 
    "publication_date": "2014-01-01", 
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    "resource_type": {
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      "title": "Dergi makalesi", 
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    "title": "Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: A novel gene related to nuclear envelopathies"
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