{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T19:35:04Z","timestamp":1790192104949,"version":"4.1.0"},"reference-count":36,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,12,21]],"date-time":"2018-12-21T00:00:00Z","timestamp":1545350400000},"content-version":"vor","delay-in-days":20,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP18ek0109280"],"award-info":[{"award-number":["JP18ek0109280"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP18dm0107090"],"award-info":[{"award-number":["JP18dm0107090"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP18ek0109301"],"award-info":[{"award-number":["JP18ek0109301"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP18ek0109348"],"award-info":[{"award-number":["JP18ek0109348"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP18kk020500"],"award-info":[{"award-number":["JP18kk020500"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001695","name":"Japan Science and Technology Corporation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001695","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007449","name":"Takeda Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007449","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2018,12]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      Galloway\u2013Mowat syndrome (GAMOS) is a neural and renal disorder, characterized by microcephaly, brain anomalies, and early onset nephrotic syndrome. Biallelic mutations in\n                      <jats:italic>WDR73<\/jats:italic>\n                      and the 4 subunit genes of the KEOPS complex are reported to cause GAMOS. Furthermore, an identical homozygous\n                      <jats:italic>NUP107<\/jats:italic>\n                      (nucleoporin 107kDa) mutation was identified in 4 GAMOS\u2010like families, although biallelic\n                      <jats:italic>NUP107<\/jats:italic>\n                      mutations were originally identified in steroid\u2010resistant nephrotic syndrome. NUP107 and NUP133 (nucleoporin 133kDa) are interacting subunits of the nuclear pore complex in the nuclear envelope during interphase, and these proteins are also involved in centrosome positioning and spindle assembly during mitosis.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Linkage analysis and whole exome sequencing were performed in a previously reported GAMOS family with brain atrophy and steroid\u2010resistant nephrotic syndrome.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We identified a homozygous\n                      <jats:italic>NUP133<\/jats:italic>\n                      mutation, c.3335\u201011T&gt;A, which results in the insertion of 9bp of intronic sequence between exons 25 and 26 in the mutant transcript. NUP133 and NUP107 interaction was impaired by the\n                      <jats:italic>NUP133<\/jats:italic>\n                      mutation based on an immunoprecipitation assay. Importantly, focal cortical dysplasia type IIa was recognized in the brain of an autopsied patient and focal segmental glomerulosclerosis was confirmed in the kidneys of the 3 examined patients. A\n                      <jats:italic>nup133<\/jats:italic>\n                      \u2010knockdown zebrafish model exhibited microcephaly, fewer neuronal cells, underdeveloped glomeruli, and fusion of the foot processes of the podocytes, which mimicked human GAMOS features.\n                      <jats:italic>nup133<\/jats:italic>\n                      morphants could be rescued by human wild\u2010type\n                      <jats:italic>NUP133<\/jats:italic>\n                      mRNA but not by mutant mRNA.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>\n                      These data indicate that the biallelic\n                      <jats:italic>NUP133<\/jats:italic>\n                      loss\u2010of\u2010function mutation causes GAMOS. Ann Neurol 2018;84:814\u2013828\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ana.25370","type":"journal-article","created":{"date-parts":[[2018,11,14]],"date-time":"2018-11-14T10:01:21Z","timestamp":1542189681000},"page":"814-828","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":59,"title":["Homozygous splicing mutation in\n                    <i>NUP13<\/i>\n                    3 causes Galloway\u2013Mowat syndrome"],"prefix":"10.1002","volume":"84","author":[{"given":"Atsushi","family":"Fujita","sequence":"first","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroyasu","family":"Tsukaguchi","sequence":"additional","affiliation":[{"name":"Second Department of Internal Medicine Kansai Medical University 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