{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T20:51:23Z","timestamp":1792788683264,"version":"4.5.0"},"reference-count":57,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"6","funder":[{"name":"Deutsche Forschungsgemeinschaft","award":["BR5733\/1-1"],"award-info":[{"award-number":["BR5733\/1-1"]}],"id":[{"id":"https:\/\/ror.org\/018mejw64","id-type":"ROR","asserted-by":"crossref"}]},{"name":"Deutsche Forschungsgemeinschaft","award":["BR 5733\/4-1"],"award-info":[{"award-number":["BR 5733\/4-1"]}],"id":[{"id":"https:\/\/ror.org\/018mejw64","id-type":"ROR","asserted-by":"crossref"}]},{"name":"Deutsche Forschungsgemeinschaft","award":["TRR422-subproject C02"],"award-info":[{"award-number":["TRR422-subproject C02"]}],"id":[{"id":"https:\/\/ror.org\/018mejw64","id-type":"ROR","asserted-by":"crossref"}]},{"name":"Deutsche Forschungsgemeinschaft","award":["404527522"],"award-info":[{"award-number":["404527522"]}],"id":[{"id":"https:\/\/ror.org\/018mejw64","id-type":"ROR","asserted-by":"crossref"}]},{"name":"Deutsche Forschungsgemeinschaft","award":["445703531"],"award-info":[{"award-number":["445703531"]}],"id":[{"id":"https:\/\/ror.org\/018mejw64","id-type":"ROR","asserted-by":"crossref"}]},{"name":"Deutsche Forschungsgemeinschaft","award":["9779\/2-1"],"award-info":[{"award-number":["9779\/2-1"]}],"id":[{"id":"https:\/\/ror.org\/018mejw64","id-type":"ROR","asserted-by":"crossref"}]},{"name":"Deutsche Forschungsgemeinschaft","award":["HA 9779\/2-1"],"award-info":[{"award-number":["HA 9779\/2-1"]}],"id":[{"id":"https:\/\/ror.org\/018mejw64","id-type":"ROR","asserted-by":"crossref"}]}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":["JASN"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:sec>\n                    <jats:title>Key Points<\/jats:title>\n                    <jats:p>\n                      <jats:list list-type=\"bullet\">\n                        <jats:list-item>\n                          <jats:p>Loss of NUP93 caused progressive glomerular disease in mice.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>Nuclear levels of podocyte transcription factors were reduced on loss of NUP93.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>Loss of NUP93 changed transcriptional programs in podocytes.<\/jats:p>\n                        <\/jats:list-item>\n                      <\/jats:list>\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Genetic variants in six different genes encoding nuclear pore complex (NPC) proteins cause steroid-resistant nephrotic syndrome and FSGS in pediatric patients. All affected proteins are structural components of NPCs, restricted channels across the nuclear envelope that are required for molecular exchange between nucleoplasm and cytoplasm. Although podocyte injury is a unifying feature of these genetic variants, the molecular mechanisms remain poorly understood.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      To elucidate the pathogenesis of NPC protein\u2013related podocyte injury, a mouse model with conditional knockout of the\n                      <jats:italic toggle=\"yes\">Nup93<\/jats:italic>\n                      gene was generated and studied. NPC density was measured by stimulated emission depletion microscopy. Transcriptomics, proteomics, and immunofluorescence analysis were used to define molecular pathogenic mechanisms.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Knockout of\n                      <jats:italic toggle=\"yes\">Nup93<\/jats:italic>\n                      reduced NPC density in podocyte nuclei. While knockout of\n                      <jats:italic toggle=\"yes\">Nup93<\/jats:italic>\n                      during kidney development led to embryonic lethality, its deletion in mature podocytes (\n                      <jats:italic toggle=\"yes\">NPHS2<\/jats:italic>\n                      -Cre) caused progressive glomerular disease with onset around 4 months of age, when a phenotype of minimal change glomerulopathy was observed. At this stage, immunofluorescence staining revealed reduced nuclear abundance of podocyte-specific transcription factors, which was due to cytoplasmic redistribution. Transcriptome and proteome analysis detected altered transcriptional regulation, prominently affecting genes related to cell adhesion and regulation of the actin cytoskeleton. Until 6 months of age, knockout mice developed progressive CKD with FSGS, podocyte loss, and uremia. Before induction of apoptosis, NUP93-deficient podocytes accumulated genomic damage as indicated by activation of the DNA damage response pathway.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Our data suggest that in early stages of disease, loss of NUP93 impaired podocyte transcription factors and altered transcriptional programs in podocytes, prominently affecting regulators of the actin cytoskeleton. In the late stages, podocytes accumulated genomic damage, leading to apoptosis and progressive glomerulosclerosis.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1681\/asn.0000000964","type":"journal-article","created":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T12:00:32Z","timestamp":1768824032000},"page":"1191-1205","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":2,"title":["Mechanisms of Podocyte Injury Due to Loss of the Nucleoporin NUP93"],"prefix":"10.1681","volume":"37","author":[{"given":"Hussein","family":"Bachir","sequence":"first","affiliation":[{"name":"Department D of Internal Medicine, University Hospital of M\u00fcnster, M\u00fcnster, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanessa","family":"Krausel","sequence":"additional","affiliation":[{"name":"Department D of Internal Medicine, University Hospital of M\u00fcnster, M\u00fcnster, 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