{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T22:08:31Z","timestamp":1789596511470,"version":"build-2803163510"},"reference-count":81,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JASN"],"published-print":{"date-parts":[[2018,8]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of CKD. The discovery of monogenic causes of SRNS has revealed specific pathogenetic pathways, but these monogenic causes do not explain all cases of SRNS.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      To identify novel monogenic causes of SRNS, we screened 665 patients by whole-exome sequencing. We then evaluated the\n                      <jats:italic toggle=\"yes\">in vitro<\/jats:italic>\n                      functional significance of two genes and the mutations therein that we discovered through this sequencing and conducted complementary studies in podocyte-like\n                      <jats:italic toggle=\"yes\">Drosophila<\/jats:italic>\n                      nephrocytes.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We identified conserved, homozygous missense mutations of\n                      <jats:italic toggle=\"yes\">GAPVD1<\/jats:italic>\n                      in two families with early-onset NS and a homozygous missense mutation of\n                      <jats:italic toggle=\"yes\">ANKFY1<\/jats:italic>\n                      in two siblings with SRNS. GAPVD1 and ANKFY1 interact with the endosomal regulator RAB5. Coimmunoprecipitation assays indicated interaction between GAPVD1 and ANKFY1 proteins, which also colocalized when expressed in HEK293T cells. Silencing either protein diminished the podocyte migration rate. Compared with wild-type GAPVD1 and ANKFY1, the mutated proteins produced upon ectopic expression of\n                      <jats:italic toggle=\"yes\">GAPVD1<\/jats:italic>\n                      or\n                      <jats:italic toggle=\"yes\">ANKFY1<\/jats:italic>\n                      bearing the patient-derived mutations exhibited altered binding affinity for active RAB5 and reduced ability to rescue the knockout-induced defect in podocyte migration. Coimmunoprecipitation assays further demonstrated a physical interaction between nephrin and GAPVD1, and immunofluorescence revealed partial colocalization of these proteins in rat glomeruli. The patient-derived\n                      <jats:italic toggle=\"yes\">GAPVD1<\/jats:italic>\n                      mutations reduced nephrin-GAPVD1 binding affinity. In\n                      <jats:italic toggle=\"yes\">Drosophila<\/jats:italic>\n                      , silencing\n                      <jats:italic toggle=\"yes\">Gapvd1<\/jats:italic>\n                      impaired endocytosis and caused mistrafficking of the nephrin ortholog.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Mutations in\n                      <jats:italic toggle=\"yes\">GAPVD1<\/jats:italic>\n                      and probably in\n                      <jats:italic toggle=\"yes\">ANKFY1<\/jats:italic>\n                      are novel monogenic causes of NS. The discovery of these genes implicates RAB5 regulation in the pathogenesis of human NS.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1681\/asn.2017121312","type":"journal-article","created":{"date-parts":[[2018,6,29]],"date-time":"2018-06-29T10:06:14Z","timestamp":1530266774000},"page":"2123-2138","source":"Crossref","is-referenced-by-count":60,"title":["GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome"],"prefix":"10.1681","volume":"29","author":[{"given":"Tobias","family":"Hermle","sequence":"first","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"},{"name":"Renal Division, University Medical Center Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronen","family":"Schneider","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Schapiro","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela A.","family":"Braun","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amelie T.","family":"van der Ven","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jillian K.","family":"Warejko","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ankana","family":"Daga","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eugen","family":"Widmeier","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Makiko","family":"Nakayama","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tilman","family":"Jobst-Schwan","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amar J.","family":"Majmundar","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shazia","family":"Ashraf","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jia","family":"Rao","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura S.","family":"Finn","sequence":"additional","affiliation":[{"name":"Department of Pathology, Seattle Children\u2019s Hospital, University of Washington, Seattle, Washington;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Velibor","family":"Tasic","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology, Medical Faculty Skopje, University Children\u2019s Hospital, Skopje, Macedonia;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joel D.","family":"Hernandez","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology, Providence Sacred Heart Medical Center and Children\u2019s Hospital, Spokane, Washington;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arvind","family":"Bagga","sequence":"additional","affiliation":[{"name":"Division of Nephrology, All India Institute of Medical Sciences, New Delhi, India;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sawsan M.","family":"Jalalah","sequence":"additional","affiliation":[{"name":"Department of Pathology, College of Medicine, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sherif","family":"El Desoky","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology Center of Excellence and Pediatric Department, Faculty of Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jameela A.","family":"Kari","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology Center of Excellence and Pediatric Department, Faculty of Medicine, King Abdulaziz University, Jeddah, Kingdom of Saudi Arabia;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristen M.","family":"Laricchia","sequence":"additional","affiliation":[{"name":"Broad Center for Mendelian Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monkol","family":"Lek","sequence":"additional","affiliation":[{"name":"Broad Center for Mendelian Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heidi L.","family":"Rehm","sequence":"additional","affiliation":[{"name":"Broad Center for Mendelian Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel G.","family":"MacArthur","sequence":"additional","affiliation":[{"name":"Broad Center for Mendelian Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shrikant","family":"Mane","sequence":"additional","affiliation":[{"name":"Department of Genetics, Yale University School of Medicine, New Haven, Connecticut; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard P.","family":"Lifton","sequence":"additional","affiliation":[{"name":"Department of Genetics, Yale University School of Medicine, New Haven, Connecticut; and"},{"name":"Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shirlee","family":"Shril","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Friedhelm","family":"Hildebrandt","sequence":"additional","affiliation":[{"name":"Department of Medicine, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2018,6,29]]},"reference":[{"key":"B1-20231016","doi-asserted-by":"crossref","first-page":"1614","DOI":"10.1681\/ASN.2016040387","article-title":"MAGI2 mutations cause congenital nephrotic syndrome.","volume":"28","author":"Bierzynska","year":"2017","journal-title":"J Am Soc Nephrol"},{"key":"B2-20231016","doi-asserted-by":"crossref","first-page":"912","DOI":"10.1172\/JCI89626","article-title":"Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.","volume":"127","author":"Lovric","year":"2017","journal-title":"J Clin Invest"},{"key":"B3-20231016","doi-asserted-by":"crossref","first-page":"1802","DOI":"10.1093\/ndt\/gfv355","article-title":"Genetic testing in steroid-resistant nephrotic syndrome: When and how?","volume":"31","author":"Lovric","year":"2016","journal-title":"Nephrol Dial Transplant"},{"key":"B4-20231016","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1016\/S1097-2765(00)80057-X","article-title":"Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome.","volume":"1","author":"Kestil\u00e4","year":"1998","journal-title":"Mol Cell"},{"key":"B5-20231016","doi-asserted-by":"crossref","first-page":"1198","DOI":"10.1038\/sj.ki.5002469","article-title":"Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation.","volume":"72","author":"L\u00f6wik","year":"2007","journal-title":"Kidney Int"},{"key":"B6-20231016","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.ajhg.2014.11.014","article-title":"Defects of CRB2 cause steroid-resistant nephrotic syndrome.","volume":"96","author":"Ebarasi","year":"2015","journal-title":"Am J Hum Genet"},{"key":"B7-20231016","doi-asserted-by":"crossref","first-page":"10822","DOI":"10.1038\/ncomms10822","article-title":"FAT1 mutations cause a glomerulotubular nephropathy.","volume":"7","author":"Gee","year":"2016","journal-title":"Nat Commun"},{"key":"B8-20231016","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1038\/74166","article-title":"NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.","volume":"24","author":"Boute","year":"2000","journal-title":"Nat Genet"},{"key":"B9-20231016","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1681\/ASN.2012090903","article-title":"DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN.","volume":"24","author":"Ozaltin","year":"2013","journal-title":"J Am Soc Nephrol"},{"key":"B10-20231016","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/j.ajhg.2011.05.026","article-title":"Disruption of PTPRO causes childhood-onset nephrotic syndrome.","volume":"89","author":"Ozaltin","year":"2011","journal-title":"Am J Hum Genet"},{"key":"B11-20231016","doi-asserted-by":"crossref","first-page":"1508","DOI":"10.1056\/NEJMoa1110813","article-title":"Integrin \u03b13 mutations with kidney, lung, and skin disease.","volume":"366","author":"Has","year":"2012","journal-title":"N Engl J Med"},{"key":"B12-20231016","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1053\/ajkd.2000.8293","article-title":"Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa.","volume":"36","author":"Kambham","year":"2000","journal-title":"Am J Kidney Dis"},{"key":"B13-20231016","doi-asserted-by":"crossref","first-page":"2625","DOI":"10.1093\/hmg\/ddh284","article-title":"Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities.","volume":"13","author":"Zenker","year":"2004","journal-title":"Hum Mol Genet"},{"key":"B14-20231016","doi-asserted-by":"crossref","first-page":"5179","DOI":"10.1172\/JCI69000","article-title":"ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.","volume":"123","author":"Ashraf","year":"2013","journal-title":"J Clin Invest"},{"key":"B15-20231016","doi-asserted-by":"crossref","first-page":"2773","DOI":"10.1681\/ASN.2006080833","article-title":"COQ2 nephropathy: A newly described inherited mitochondriopathy with primary renal involvement.","volume":"18","author":"Diomedi-Camassei","year":"2007","journal-title":"J Am Soc Nephrol"},{"key":"B16-20231016","doi-asserted-by":"crossref","first-page":"2013","DOI":"10.1172\/JCI45693","article-title":"COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.","volume":"121","author":"Heeringa","year":"2011","journal-title":"J Clin Invest"},{"key":"B17-20231016","doi-asserted-by":"crossref","first-page":"1125","DOI":"10.1086\/510023","article-title":"Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations.","volume":"79","author":"L\u00f3pez","year":"2006","journal-title":"Am J Hum Genet"},{"key":"B18-20231016","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1038\/73456","article-title":"Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis.","volume":"24","author":"Kaplan","year":"2000","journal-title":"Nat Genet"},{"key":"B19-20231016","doi-asserted-by":"crossref","first-page":"1991","DOI":"10.1681\/ASN.2013090976","article-title":"Mutations in the gene that encodes the F-actin binding protein anillin cause FSGS.","volume":"25","author":"Gbadegesin","year":"2014","journal-title":"J Am Soc Nephrol"},{"key":"B20-20231016","doi-asserted-by":"crossref","first-page":"4127","DOI":"10.1172\/JCI46458","article-title":"Arhgap24 inactivates Rac1 in mouse podocytes, and a mutant form is associated with familial focal segmental glomerulosclerosis.","volume":"121","author":"Akilesh","year":"2011","journal-title":"J Clin Invest"},{"key":"B21-20231016","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1136\/jmedgenet-2012-101442","article-title":"ARHGDIA: A novel gene implicated in nephrotic syndrome.","volume":"50","author":"Gupta","year":"2013","journal-title":"J Med Genet"},{"key":"B22-20231016","doi-asserted-by":"crossref","first-page":"3243","DOI":"10.1172\/JCI69134","article-title":"ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling.","volume":"123","author":"Gee","year":"2013","journal-title":"J Clin Invest"},{"key":"B23-20231016","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1038\/ng.505","article-title":"Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.","volume":"42","author":"Brown","year":"2010","journal-title":"Nat Genet"},{"key":"B24-20231016","doi-asserted-by":"crossref","first-page":"2375","DOI":"10.1172\/JCI79504","article-title":"KANK deficiency leads to podocyte dysfunction and nephrotic syndrome.","volume":"125","author":"Gee","year":"2015","journal-title":"J Clin Invest"},{"key":"B25-20231016","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1056\/NEJMoa1101273","article-title":"MYO1E mutations and childhood familial focal segmental glomerulosclerosis.","volume":"365","author":"Mele","year":"2011","journal-title":"N Engl J Med"},{"key":"B26-20231016","doi-asserted-by":"crossref","first-page":"1033","DOI":"10.1086\/324267","article-title":"Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.","volume":"69","author":"Heath","year":"2001","journal-title":"Am J Hum Genet"},{"key":"B27-20231016","doi-asserted-by":"crossref","first-page":"1815","DOI":"10.1681\/ASN.2011040337","article-title":"Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria.","volume":"22","author":"Ovunc","year":"2011","journal-title":"J Am Soc Nephrol"},{"key":"B28-20231016","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1016\/j.ajhg.2007.12.019","article-title":"Array-based gene discovery with three unrelated subjects shows SCARB2\/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.","volume":"82","author":"Berkovic","year":"2008","journal-title":"Am J Hum Genet"},{"key":"B29-20231016","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1038\/ng821","article-title":"Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.","volume":"30","author":"Boerkoel","year":"2002","journal-title":"Nat Genet"},{"key":"B30-20231016","doi-asserted-by":"crossref","first-page":"1091","DOI":"10.1093\/hmg\/7.7.1091","article-title":"Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome.","volume":"7","author":"Vollrath","year":"1998","journal-title":"Hum Mol Genet"},{"key":"B31-20231016","doi-asserted-by":"crossref","first-page":"1397","DOI":"10.1038\/ng1918","article-title":"Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.","volume":"38","author":"Hinkes","year":"2006","journal-title":"Nat Genet"},{"key":"B32-20231016","doi-asserted-by":"crossref","first-page":"884","DOI":"10.1016\/j.ajhg.2014.04.010","article-title":"Mutations in EMP2 cause childhood-onset nephrotic syndrome.","volume":"94","author":"Gee","year":"2014","journal-title":"Am J Hum Genet"},{"key":"B34-20231016","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1053\/j.ajkd.2012.04.011","article-title":"Secondary focal and segmental glomerulosclerosis associated with single-nucleotide polymorphisms in the genes encoding complement factor H and C3.","volume":"60","author":"Sethi","year":"2012","journal-title":"Am J Kidney Dis"},{"key":"B35-20231016","doi-asserted-by":"crossref","first-page":"824","DOI":"10.1086\/301806","article-title":"Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype\/phenotype correlations by use of a computerized mutation database.","volume":"62","author":"Jeanpierre","year":"1998","journal-title":"Am J Hum Genet"},{"key":"B36-20231016","doi-asserted-by":"crossref","first-page":"4251","DOI":"10.1074\/jbc.275.6.4251","article-title":"Modification defect at anticodon wobble nucleotide of mitochondrial tRNAs(Leu)(UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.","volume":"275","author":"Yasukawa","year":"2000","journal-title":"J Biol Chem"},{"key":"B37-20231016","doi-asserted-by":"crossref","first-page":"1801","DOI":"10.1126\/science.1106215","article-title":"A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis.","volume":"308","author":"Winn","year":"2005","journal-title":"Science"},{"key":"B38-20231016","doi-asserted-by":"crossref","first-page":"4257","DOI":"10.1172\/JCI94138","article-title":"Advillin acts upstream of phospholipase C \u03f51 in steroid-resistant nephrotic syndrome.","volume":"127","author":"Rao","year":"2017","journal-title":"J Clin Invest"},{"key":"B39-20231016","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1038\/ng.3512","article-title":"Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome.","volume":"48","author":"Braun","year":"2016","journal-title":"Nat Genet"},{"key":"B40-20231016","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1016\/j.ajhg.2015.08.013","article-title":"Biallelic mutations in nuclear pore complex subunit NUP107 cause early-childhood-onset steroid-resistant nephrotic syndrome.","volume":"97","author":"Miyake","year":"2015","journal-title":"Am J Hum Genet"},{"key":"B41-20231016","first-page":"1013","article-title":"NUP107 mutations in children with steroid-resistant nephrotic syndrome.","volume":"32","author":"Park","year":"2017","journal-title":"Nephrol Dial Transplant"},{"key":"B42-20231016","doi-asserted-by":"crossref","first-page":"1529","DOI":"10.1038\/ng.3933","article-title":"Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.","volume":"49","author":"Braun","year":"2017","journal-title":"Nat Genet"},{"key":"B43-20231016","doi-asserted-by":"crossref","first-page":"14110","DOI":"10.1073\/pnas.0602587103","article-title":"beta-Arrestin2 mediates nephrin endocytosis and impairs slit diaphragm integrity.","volume":"103","author":"Quack","year":"2006","journal-title":"Proc Natl Acad Sci U S A"},{"key":"B44-20231016","doi-asserted-by":"crossref","first-page":"3667","DOI":"10.2337\/db16-0081","article-title":"CIN85 deficiency prevents nephrin endocytosis and proteinuria in diabetes.","volume":"65","author":"Teng","year":"2016","journal-title":"Diabetes"},{"key":"B45-20231016","doi-asserted-by":"crossref","first-page":"2534","DOI":"10.1681\/ASN.2009010011","article-title":"Phosphorylation of nephrin triggers its internalization by raft-mediated endocytosis.","volume":"20","author":"Qin","year":"2009","journal-title":"J Am Soc Nephrol"},{"key":"B46-20231016","doi-asserted-by":"crossref","first-page":"24035","DOI":"10.1074\/jbc.M113.452904","article-title":"Planar cell polarity pathway regulates nephrin endocytosis in developing podocytes.","volume":"288","author":"Babayeva","year":"2013","journal-title":"J Biol Chem"},{"key":"B47-20231016","doi-asserted-by":"crossref","first-page":"39513","DOI":"10.1038\/srep39513","article-title":"Angiotensin II increases glomerular permeability by \u03b2-arrestin mediated nephrin endocytosis.","volume":"6","author":"K\u00f6nigshausen","year":"2016","journal-title":"Sci Rep"},{"key":"B48-20231016","doi-asserted-by":"crossref","first-page":"12959","DOI":"10.1074\/jbc.M110.204024","article-title":"PKC alpha mediates beta-arrestin2-dependent nephrin endocytosis in hyperglycemia.","volume":"286","author":"Quack","year":"2011","journal-title":"J Biol Chem"},{"key":"B49-20231016","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1128\/MCB.00468-10","article-title":"Requirement for class II phosphoinositide 3-kinase C2alpha in maintenance of glomerular structure and function.","volume":"31","author":"Harris","year":"2011","journal-title":"Mol Cell Biol"},{"key":"B50-20231016","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1681\/ASN.2012070700","article-title":"Vps34 deficiency reveals the importance of endocytosis for podocyte homeostasis.","volume":"24","author":"Bechtel","year":"2013","journal-title":"J Am Soc Nephrol"},{"key":"B51-20231016","doi-asserted-by":"crossref","first-page":"F398","DOI":"10.1152\/ajprenal.00136.2015","article-title":"Podocyte endocytosis in the regulation of the glomerular filtration barrier.","volume":"309","author":"Inoue","year":"2015","journal-title":"Am J Physiol Renal Physiol"},{"key":"B52-20231016","doi-asserted-by":"crossref","first-page":"4401","DOI":"10.1172\/JCI65289","article-title":"Role of dynamin, synaptojanin, and endophilin in podocyte foot processes.","volume":"122","author":"Soda","year":"2012","journal-title":"J Clin Invest"},{"key":"B53-20231016","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/j.cmet.2006.12.006","article-title":"Gapex-5, a Rab31 guanine nucleotide exchange factor that regulates Glut4 trafficking in adipocytes.","volume":"5","author":"Lodhi","year":"2007","journal-title":"Cell Metab"},{"key":"B54-20231016","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1038\/nature07526","article-title":"The insect nephrocyte is a podocyte-like cell with a filtration slit diaphragm.","volume":"457","author":"Weavers","year":"2009","journal-title":"Nature"},{"key":"B55-20231016","doi-asserted-by":"crossref","first-page":"1521","DOI":"10.1681\/ASN.2016050517","article-title":"Modeling monogenic human nephrotic syndrome in the Drosophila garland cell nephrocyte.","volume":"28","author":"Hermle","year":"2017","journal-title":"J Am Soc Nephrol"},{"key":"B56-20231016","doi-asserted-by":"crossref","first-page":"1498","DOI":"10.1101\/gad.14.12.1498","article-title":"Drosophila SNS, a member of the immunoglobulin superfamily that is essential for myoblast fusion.","volume":"14","author":"Bour","year":"2000","journal-title":"Genes Dev"},{"key":"B57-20231016","doi-asserted-by":"crossref","first-page":"1455","DOI":"10.1016\/j.mod.2004.08.001","article-title":"SNS: Adhesive properties, localization requirements and ectodomain dependence in S2 cells and embryonic myoblasts.","volume":"121","author":"Galletta","year":"2004","journal-title":"Mech Dev"},{"key":"B58-20231016","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1093\/hmg\/11.4.379","article-title":"Genotype\/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.","volume":"11","author":"Koziell","year":"2002","journal-title":"Hum Mol Genet"},{"key":"B59-20231016","doi-asserted-by":"crossref","first-page":"1209","DOI":"10.1681\/ASN.2009121309","article-title":"Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.","volume":"21","author":"Machuca","year":"2010","journal-title":"J Am Soc Nephrol"},{"key":"B60-20231016","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/j.gene.2012.04.063","article-title":"A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan.","volume":"502","author":"Abid","year":"2012","journal-title":"Gene"},{"key":"B61-20231016","doi-asserted-by":"crossref","first-page":"1268","DOI":"10.1038\/ki.2009.381","article-title":"Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis.","volume":"76","author":"Sant\u00edn","year":"2009","journal-title":"Kidney Int"},{"key":"B62-20231016","doi-asserted-by":"crossref","first-page":"1871","DOI":"10.1681\/ASN.2008010059","article-title":"Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.","volume":"19","author":"Philippe","year":"2008","journal-title":"J Am Soc Nephrol"},{"key":"B63-20231016","doi-asserted-by":"crossref","first-page":"2837","DOI":"10.1093\/ndt\/gfq434","article-title":"Expanding the clinical spectrum of congenital nephrotic syndrome caused by NPHS1 mutations.","volume":"25","author":"Godefroid","year":"2010","journal-title":"Nephrol Dial Transplant"},{"key":"B64-20231016","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1007\/s00467-009-1385-5","article-title":"Changes in glomerular mesangium in kidneys with congenital nephrotic syndrome of the Finnish type.","volume":"25","author":"Kaukinen","year":"2010","journal-title":"Pediatr Nephrol"},{"key":"B65-20231016","doi-asserted-by":"crossref","first-page":"972","DOI":"10.1046\/j.1523-1755.2000.00254.x","article-title":"Congenital nephrotic syndrome (NPHS1): Features resulting from different mutations in Finnish patients.","volume":"58","author":"Patrakka","year":"2000","journal-title":"Kidney Int"},{"key":"B66-20231016","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1016\/j.bbrc.2005.12.099","article-title":"Rab5-activating protein 6, a novel endosomal protein with a role in endocytosis.","volume":"340","author":"Hunker","year":"2006","journal-title":"Biochem Biophys Res Commun"},{"key":"B67-20231016","doi-asserted-by":"crossref","first-page":"21278","DOI":"10.1074\/jbc.M703725200","article-title":"GAPex-5 mediates ubiquitination, trafficking, and degradation of epidermal growth factor receptor.","volume":"282","author":"Su","year":"2007","journal-title":"J Biol Chem"},{"key":"B68-20231016","doi-asserted-by":"crossref","first-page":"2718","DOI":"10.1091\/mbc.e08-01-0105","article-title":"Insulin stimulates phosphatidylinositol 3-phosphate production via the activation of Rab5.","volume":"19","author":"Lodhi","year":"2008","journal-title":"Mol Biol Cell"},{"key":"B69-20231016","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1038\/nature06857","article-title":"Imaging of Rab5 activity identifies essential regulators for phagosome maturation.","volume":"453","author":"Kitano","year":"2008","journal-title":"Nature"},{"key":"B70-20231016","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1038\/ncb1261","article-title":"Caenorhabditis elegans RME-6 is a novel regulator of RAB-5 at the clathrin-coated pit.","volume":"7","author":"Sato","year":"2005","journal-title":"Nat Cell Biol"},{"key":"B71-20231016","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1083\/jcb.200806016","article-title":"Coordinated regulation of AP2 uncoating from clathrin-coated vesicles by rab5 and hRME-6.","volume":"183","author":"Semerdjieva","year":"2008","journal-title":"J Cell Biol"},{"key":"B72-20231016","doi-asserted-by":"crossref","first-page":"E261","DOI":"10.1371\/journal.pbio.0020261","article-title":"The Rab5 effector Rabankyrin-5 regulates and coordinates different endocytic mechanisms.","volume":"2","author":"Schnatwinkel","year":"2004","journal-title":"PLoS Biol"},{"key":"B73-20231016","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1111\/j.1600-0854.2012.01334.x","article-title":"Rabankyrin-5 interacts with EHD1 and Vps26 to regulate endocytic trafficking and retromer function.","volume":"13","author":"Zhang","year":"2012","journal-title":"Traffic"},{"key":"B74-20231016","doi-asserted-by":"crossref","first-page":"1242","DOI":"10.1111\/tra.12121","article-title":"RhoD binds the Rab5 effector Rabankyrin-5 and has a role in trafficking of the platelet-derived growth factor receptor.","volume":"14","author":"Nehru","year":"2013","journal-title":"Traffic"},{"key":"B75-20231016","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1006\/bbrc.1999.0430","article-title":"Molecular cloning of a novel 130-kDa cytoplasmic protein, Ankhzn, containing Ankyrin repeats hooked to a zinc finger motif.","volume":"257","author":"Ito","year":"1999","journal-title":"Biochem Biophys Res Commun"},{"key":"B76-20231016","doi-asserted-by":"crossref","first-page":"2281","DOI":"10.1038\/nprot.2013.143","article-title":"Genome engineering using the CRISPR-Cas9 system.","volume":"8","author":"Ran","year":"2013","journal-title":"Nat Protoc"},{"key":"B77-20231016","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1016\/j.cellsig.2015.01.015","article-title":"IQGAP1 regulates actin cytoskeleton organization in podocytes through interaction with nephrin.","volume":"27","author":"Liu","year":"2015","journal-title":"Cell Signal"},{"key":"B78-20231016","doi-asserted-by":"crossref","first-page":"2335","DOI":"10.1242\/dev.031609","article-title":"Sns and Kirre, the Drosophila orthologs of Nephrin and Neph1, direct adhesion, fusion and formation of a slit diaphragm-like structure in insect nephrocytes.","volume":"136","author":"Zhuang","year":"2009","journal-title":"Development"},{"key":"B79-20231016","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1007\/s00441-017-2575-2","article-title":"Comprehensive functional analysis of Rab GTPases in Drosophila nephrocytes.","volume":"368","author":"Fu","year":"2017","journal-title":"Cell Tissue Res"},{"key":"B80-20231016","doi-asserted-by":"crossref","first-page":"28932","DOI":"10.1074\/jbc.M112.389452","article-title":"Dynamin-mediated Nephrin phosphorylation regulates glucose-stimulated insulin release in pancreatic beta cells.","volume":"287","author":"Jeon","year":"2012","journal-title":"J Biol Chem"},{"key":"B81-20231016","doi-asserted-by":"crossref","first-page":"e10185","DOI":"10.1371\/journal.pone.0010185","article-title":"Podocytic PKC-alpha is regulated in murine and human diabetes and mediates nephrin endocytosis.","volume":"5","author":"Tossidou","year":"2010","journal-title":"PLoS One"},{"key":"B82-20231016","first-page":"2401","article-title":"Rab5 is required in metastatic cancer cells for Caveolin-1-enhanced Rac1 activation, migration and invasion.","volume":"127","author":"Diaz","year":"2014","journal-title":"J Cell Sci"}],"container-title":["Journal of the American Society of Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/00001751-201808000-00015","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T19:31:03Z","timestamp":1786131063000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/00001751-201808000-00015"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,6,29]]},"references-count":81,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2018]]}},"URL":"https:\/\/doi.org\/10.1681\/asn.2017121312","relation":{},"ISSN":["1046-6673","1533-3450"],"issn-type":[{"value":"1046-6673","type":"print"},{"value":"1533-3450","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,6,29]]}}}