1 Ocak 2015 Dergi makalesi Açık Erişim

Akizu, Naiara; Cantagrel, Vincent; Zaki, Maha S.; Al-Gazali, Lihadh; Wang, Xin; Rosti, Rasim Ozgur; Dikoglu, Esra; Gelot, Antoinette Bernabe; Rosti, Basak; Vaux, Keith K.; Scott, Eric M.; Silhavy, Jennifer L.; Schroth, Jana; Copeland, Brett; Schaffer, Ashleigh E.; Gordts, Philip L. S. M.; Esko, Jeffrey D.; Buschman, Matthew D.; Field, Seth J.; Napolitano, Gennaro; Napolitano, Gennaro

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    "creators": [
      {
        "name": "Akizu, Naiara"
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      {
        "affiliation": "Hop Necker Enfants Malad, INSERM, Inst Imagine, U1163, Paris, France", 
        "name": "Cantagrel, Vincent"
      }, 
      {
        "affiliation": "Natl Res Ctr, Dept Clin Genet, Human Genet & Genome Res Div, Cairo, Egypt", 
        "name": "Zaki, Maha S."
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      {
        "affiliation": "United Arab Emirates Univ, Dept Pediat, Coll Med & Hlth Sci, Abu Dhabi, U Arab Emirates", 
        "name": "Al-Gazali, Lihadh"
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      {
        "name": "Wang, Xin"
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      {
        "name": "Rosti, Rasim Ozgur"
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        "name": "Dikoglu, Esra"
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        "name": "Gelot, Antoinette Bernabe"
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      {
        "name": "Rosti, Basak"
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        "name": "Vaux, Keith K."
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        "name": "Scott, Eric M."
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      {
        "name": "Silhavy, Jennifer L."
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        "name": "Schroth, Jana"
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      {
        "name": "Copeland, Brett"
      }, 
      {
        "name": "Schaffer, Ashleigh E."
      }, 
      {
        "affiliation": "Univ Calif San Diego, Dept Cellular & Mol Med, La Jolla, CA 92093 USA", 
        "name": "Gordts, Philip L. S. M."
      }, 
      {
        "affiliation": "Univ Calif San Diego, Dept Cellular & Mol Med, La Jolla, CA 92093 USA", 
        "name": "Esko, Jeffrey D."
      }, 
      {
        "affiliation": "Univ Calif San Diego, Dept Med, Div Endocrinol & Metab, La Jolla, CA 92093 USA", 
        "name": "Buschman, Matthew D."
      }, 
      {
        "affiliation": "Univ Calif San Diego, Dept Med, Div Endocrinol & Metab, La Jolla, CA 92093 USA", 
        "name": "Field, Seth J."
      }, 
      {
        "affiliation": "Scripps Res Inst, Dept Mol & Expt Med, La Jolla, CA 92037 USA", 
        "name": "Napolitano, Gennaro"
      }, 
      {
        "affiliation": "Scripps Res Inst, Dept Mol & Expt Med, La Jolla, CA 92037 USA", 
        "name": "Napolitano, Gennaro"
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    ], 
    "description": "Pediatric-onset ataxias often present clinically as developmental delay and intellectual disability, with prominent cerebellar atrophy as a key neuroradiographic finding. Here we describe a new clinically distinguishable recessive syndrome in 12 families with cerebellar atrophy together with ataxia, coarsened facial features and intellectual disability, due to truncating mutations in the sorting nexin gene SNX14, encoding a ubiquitously expressed modular PX domain-containing sorting factor. We found SNX14 localized to lysosomes and associated with phosphatidylinositol (3,5)-bisphosphate, a key component of late endosomes/lysosomes. Patient-derived cells showed engorged lysosomes and a slower autophagosome clearance rate upon autophagy induction by starvation. Zebrafish morphants for snx14 showed dramatic loss of cerebellar parenchyma, accumulation of autophagosomes and activation of apoptosis. Our results characterize a unique ataxia syndrome due to biallelic SNX14 mutations leading to lysosome-autophagosome dysfunction.", 
    "doi": "10.1038/ng.3256", 
    "has_grant": false, 
    "journal": {
      "issue": "5", 
      "pages": "528-U137", 
      "title": "NATURE GENETICS", 
      "volume": "47"
    }, 
    "license": {
      "id": "cc-by"
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    "publication_date": "2015-01-01", 
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      "title": "Dergi makalesi", 
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    "title": "Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction"
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