{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T20:53:30Z","timestamp":1792788810914,"version":"4.5.0"},"reference-count":64,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","funder":[{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Million dollar bike ride grant program","award":["MDBR-23-029-ML4"],"award-info":[{"award-number":["MDBR-23-029-ML4"]}]}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":["JASN"],"published-print":{"date-parts":[[2025,4]]},"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>Lack of transient receptor potential cation channel (TRPML-1) causes tubulopathy.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>Only adults affected of mucolipidosis type IV present kidney damage signs, including lower eGFR and higher levels of BUN\/creatine in blood and proteinuria.<\/jats:p>\n                        <\/jats:list-item>\n                        <jats:list-item>\n                          <jats:p>TRPML-1 deficiency links lysosomal and autophagic dysfunction with inflammation in mucolipidosis type IV kidney disease.<\/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>Loss-of-function mutations in the lysosomal channel transient receptor potential cation channel (TRPML-1) cause mucolipidosis type IV (MLIV), a rare lysosomal storage disease characterized by neurological defects, progressive vision loss, and achlorhydria. Recent reports have highlighted kidney disease and kidney failure in patients with MLIV during the second to third decade of life; however, the molecular mechanisms driving kidney dysfunction remain poorly understood.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      A cross-sectional review of medical records from 21 patients with MLIV (ages 3\u201343 years) was conducted to assess kidney function impairment. In addition, we examined the kidney phenotype of MLIV mice at various ages, along with human kidney cells silenced for TRPML-1 and primary tubular cells from wild-type and MLIV mice. Immunohistology and cell biology approaches were used to phenotype nephron structure, the endolysosomal compartment, and inflammation. Kidney function was assessed through proteomic analysis of mouse urine and\n                      <jats:italic toggle=\"yes\">in vivo<\/jats:italic>\n                      kidney filtration measurements.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Of the 21 patients with MLIV, only adults were diagnosed with stage 2\u20133 CKD. Laboratory abnormalities included lower eGFR and higher levels BUN\/creatine in blood and proteinuria. In MLIV mice, we observed significant alterations in endolysosomal morphology, function, and impaired autophagy in proximal and distal tubules. This led to the accumulation of megalin (LRP2) in the subapical region of proximal tubular cells, indicating a block in apical receptor\u2013mediated endocytosis.\n                      <jats:italic toggle=\"yes\">In vivo<\/jats:italic>\n                      and\n                      <jats:italic toggle=\"yes\">in vitro<\/jats:italic>\n                      experiments confirmed reduced fluid-phase endocytosis and impaired uptake of ligands, including\n                      <jats:italic toggle=\"yes\">\u03b2<\/jats:italic>\n                      -lactoglobulin, transferrin, and albumin in MLIV proximal tubular cells. Urine analysis revealed tubular proteinuria and enzymuria in mice with MLIV. In addition, early-stage disease was marked by increased inflammatory markers, fibrosis, and activation of the proinflammatory transcription factor NF-\u03baB, coinciding with endolysosomal defects. Importantly, adeno-associated viral\u2013mediated TRPML-1 gene delivery reversed key pathological phenotypes in MLIV mice, underscoring TRPML-1's critical role in kidney function.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Our findings link TRPML-1 dysfunction to the development of kidney disease in MLIV.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1681\/asn.0000000567","type":"journal-article","created":{"date-parts":[[2024,12,4]],"date-time":"2024-12-04T12:01:19Z","timestamp":1733313679000},"page":"587-601","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":6,"title":["TRPML-1 Dysfunction and Renal Tubulopathy in Mucolipidosis Type IV"],"prefix":"10.1681","volume":"36","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6466-3047","authenticated-orcid":false,"given":"Giuseppina","family":"Grieco","sequence":"first","affiliation":[{"name":"Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandro","family":"Montefusco","sequence":"additional","affiliation":[{"name":"Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edoardo","family":"Nusco","sequence":"additional","affiliation":[{"name":"Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonella","family":"Capuozzo","sequence":"additional","affiliation":[{"name":"Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1926-540X","authenticated-orcid":false,"given":"Francesca","family":"Cervellini","sequence":"additional","affiliation":[{"name":"Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Polishchuk","sequence":"additional","affiliation":[{"name":"Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martha","family":"Bishop","sequence":"additional","affiliation":[{"name":"Department of Neurology, Massachusetts General Hospital Center for Genomic Medicine, Harvard Medical School, Boston, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8959-1780","authenticated-orcid":false,"given":"Antonio","family":"Miele","sequence":"additional","affiliation":[{"name":"Department of Medical Translational Sciences, University of Campania \u201cLuigi Vanvitelli,\u201d Naples, Italy"},{"name":"Institute of Molecular Biology and Genetics, Biogem, Ariano Irpino, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4109-3680","authenticated-orcid":false,"given":"Luciano","family":"D\u2019Apolito","sequence":"additional","affiliation":[{"name":"Department of Medical Translational Sciences, University of Campania \u201cLuigi Vanvitelli,\u201d Naples, Italy"},{"name":"Institute of Molecular Biology and Genetics, Biogem, Ariano Irpino, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"La Vecchia","sequence":"additional","affiliation":[{"name":"Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6641-3321","authenticated-orcid":false,"given":"Miriam","family":"Aurilia","sequence":"additional","affiliation":[{"name":"Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michela","family":"Schiavo","sequence":"additional","affiliation":[{"name":"Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7017-1516","authenticated-orcid":false,"given":"Leopoldo","family":"Staiano","sequence":"additional","affiliation":[{"name":"Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy"},{"name":"Institute for Genetic and Biomedical Research, National Research Council (CNR), Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9099-8681","authenticated-orcid":false,"given":"Marcella","family":"Cesana","sequence":"additional","affiliation":[{"name":"Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy"},{"name":"Department of Advanced Biomedical Sciences, Federico II University, Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Oberman","sequence":"additional","affiliation":[{"name":"Mucolipidosis Type IV Foundation, Atlanta, Georgia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna V.","family":"Lynch","sequence":"additional","affiliation":[{"name":"Department of Neurology, Massachusetts General Hospital Center for Genomic Medicine, Boston, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8724-5649","authenticated-orcid":false,"given":"Patricia","family":"Musolino","sequence":"additional","affiliation":[{"name":"Department of Neurology, Massachusetts General Hospital Center for Genomic Medicine, Harvard Medical School, Boston, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0622-6612","authenticated-orcid":false,"given":"Francesco","family":"Trepiccione","sequence":"additional","affiliation":[{"name":"Department of Medical Translational Sciences, University of Campania \u201cLuigi Vanvitelli,\u201d Naples, Italy"},{"name":"Institute of Molecular Biology and Genetics, Biogem, Ariano Irpino, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4684-4159","authenticated-orcid":false,"given":"Yulia","family":"Grishchuk","sequence":"additional","affiliation":[{"name":"Department of Neurology, Massachusetts General Hospital Center for Genomic Medicine, Harvard Medical School, Boston, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7347-2645","authenticated-orcid":false,"given":"Diego Luis","family":"Medina","sequence":"additional","affiliation":[{"name":"Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy"},{"name":"Medical Genetics Unit, Department of Medical and Translational Science, Federico II University, Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2024,12,4]]},"reference":[{"issue":"4","key":"B1-20250930","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1152\/physiol.00022.2012","article-title":"Endocytic receptors in the renal proximal tubule","volume":"27","author":"Christensen","year":"2012","journal-title":"Physiology."},{"issue":"3","key":"B2-20250930","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1038\/sj.ki.5000141","article-title":"Renal albumin absorption in physiology and pathology","volume":"69","author":"Birn","year":"2006","journal-title":"Kidney Int."},{"issue":"11","key":"B3-20250930","doi-asserted-by":"crossref","first-page":"3446","DOI":"10.1093\/ndt\/gfr525","article-title":"Mouse model of proximal tubule endocytic dysfunction","volume":"26","author":"Weyer","year":"2011","journal-title":"Nephrol Dial Transplant."},{"issue":"5","key":"B4-20250930","doi-asserted-by":"crossref","first-page":"F1284","DOI":"10.1152\/ajprenal.00030.2020","article-title":"Distinct functions of megalin and cubilin receptors in recovery of normal and nephrotic levels of filtered albumin","volume":"318","author":"Ren","year":"2020","journal-title":"Am J Physiol Renal Physiol."},{"issue":"4","key":"B5-20250930","doi-asserted-by":"crossref","first-page":"F562","DOI":"10.1152\/ajprenal.2001.280.4.F562","article-title":"Megalin and cubilin: synergistic endocytic receptors in renal proximal tubule","volume":"280","author":"Christensen","year":"2001","journal-title":"Am J Physiol Renal Physiol."},{"issue":"4","key":"B6-20250930","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1038\/nrm778","article-title":"Megalin and cubilin: multifunctional endocytic receptors","volume":"3","author":"Christensen","year":"2002","journal-title":"Nat Rev Mol Cell Biol."},{"issue":"8","key":"B7-20250930","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1038\/nrneph.2017.83","article-title":"The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2","volume":"13","author":"De Matteis","year":"2017","journal-title":"Nat Rev Nephrol."},{"issue":"7","key":"B8-20250930","doi-asserted-by":"crossref","first-page":"e52173","DOI":"10.15252\/embr.202052173","article-title":"OCRL regulates lysosome positioning and mTORC1 activity through SSX2IP-mediated microtubule anchoring","volume":"22","author":"Wang","year":"2021","journal-title":"EMBO Rep."},{"issue":"5","key":"B9-20250930","doi-asserted-by":"crossref","first-page":"1243","DOI":"10.1016\/j.kint.2016.12.017","article-title":"The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis","volume":"91","author":"Palazzo","year":"2017","journal-title":"Kidney Int."},{"issue":"3","key":"B10-20250930","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1002\/mgg3.205","article-title":"Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families","volume":"4","author":"Escobar","year":"2016","journal-title":"Mol Genet Genomic Med."},{"issue":"14","key":"B11-20250930","doi-asserted-by":"crossref","first-page":"8472","DOI":"10.1073\/pnas.1432873100","article-title":"Loss of chloride channel ClC-5 impairs endocytosis by defective trafficking of megalin and cubilin in kidney proximal tubules","volume":"100","author":"Christensen","year":"2003","journal-title":"Proc Natl Acad Sci U S A."},{"issue":"6","key":"B12-20250930","doi-asserted-by":"crossref","first-page":"1256","DOI":"10.1681\/ASN.2013060598","article-title":"Time course of pathogenic and adaptation mechanisms in cystinotic mouse kidneys","volume":"25","author":"Gaide Chevronnay","year":"2014","journal-title":"J Am Soc Nephrol."},{"issue":"1","key":"B13-20250930","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1007\/s00424-009-0716-5","article-title":"The tissue-specific expression of TRPML2 (MCOLN-2) gene is influenced by the presence of TRPML1","volume":"459","author":"Samie","year":"2009","journal-title":"Pflugers Arch."},{"key":"B14-20250930","article-title":"A structural overview of TRPML1 and the TRPML family. In:","volume":"278","author":"Fine","journal-title":"Endolysosomal Voltage-Dependent Cation Channels. Handbook of Experimental Pharmacology,"},{"key":"B15-20250930","article-title":"Lysosomal TRPML1 channel: implications in cardiovascular and kidney diseases. In:","volume":"1349","author":"Li","journal-title":"Ion Channels in Biophysics and Physiology. Advances in Experimental Medicine and Biology,"},{"issue":"5","key":"B16-20250930","doi-asserted-by":"crossref","first-page":"1070","DOI":"10.1086\/521954","article-title":"Neurologic, gastric, and opthalmologic pathologies in a murine model of mucolipidosis type IV","volume":"81","author":"Venugopal","year":"2007","journal-title":"Am J Hum Genet."},{"issue":"54","key":"B17-20250930","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1186\/1471-2121-8-54","article-title":"Lysosomal trafficking functions of mucolipin-1 in murine macrophages","volume":"8","author":"Thompson","year":"2007","journal-title":"BMC Cell Biol."},{"issue":"3","key":"B18-20250930","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1016\/j.devcel.2011.07.016","article-title":"Transcriptional activation of lysosomal exocytosis promotes cellular clearance","volume":"21","author":"Medina","year":"2011","journal-title":"Dev Cell."},{"issue":"3","key":"B19-20250930","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1053\/j.gastro.2010.11.040","article-title":"A role for the Ca2+ channel TRPML1 in gastric acid secretion, based on analysis of knockout mice","volume":"140","author":"Chandra","year":"2011","journal-title":"Gastroenterology."},{"issue":"11","key":"B20-20250930","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1007\/s12098-017-2401-6","article-title":"Mucolipidosis type IV due to novel MCOLN1 mutation","volume":"84","author":"Gowda","year":"2017","journal-title":"Indian J Pediatr."},{"issue":"7","key":"B21-20250930","doi-asserted-by":"crossref","first-page":"dmm044230","DOI":"10.1242\/dmm.044230","article-title":"Early evidence of delayed oligodendrocyte maturation in the mouse model of mucolipidosis type IV","volume":"13","author":"Mepyans","year":"2020","journal-title":"Dis Model Mech."},{"key":"B22-20250930","doi-asserted-by":"crossref","first-page":"135944","DOI":"10.1016\/j.neulet.2021.135944","article-title":"Progress in elucidating pathophysiology of mucolipidosis IV","volume":"755","author":"Misko","year":"2021","journal-title":"Neurosci Lett."},{"issue":"3","key":"B23-20250930","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1038\/ncb3114","article-title":"Lysosomal calcium signalling regulates autophagy through calcineurin and TFEB","volume":"17","author":"Medina","year":"2015","journal-title":"Nat Cell Biol."},{"issue":"11","key":"B24-20250930","doi-asserted-by":"crossref","first-page":"1677","DOI":"10.1038\/s41556-022-01017-4","article-title":"Author Correction: LC3 lipidation is essential for TFEB activation during the lysosomal damage response to kidney injury","volume":"24","author":"Nakamura","year":"2022","journal-title":"Nat Cell Biol."},{"issue":"3","key":"B25-20250930","doi-asserted-by":"crossref","first-page":"C481","DOI":"10.1152\/ajpcell.00150.2019","article-title":"Control of lysosomal TRPML1 channel activity and exosome release by acid ceramidase in mouse podocytes","volume":"317","author":"Li","year":"2019","journal-title":"Am J Physiol Cell Physiol."},{"issue":"133","key":"B27-20250930","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1186\/s40478-014-0133-7","article-title":"Behavioral deficits, early gliosis, dysmyelination and synaptic dysfunction in a mouse model of mucolipidosis IV","volume":"2","author":"Grishchuk","year":"2014","journal-title":"Acta Neuropathol Commun."},{"issue":"1","key":"B28-20250930","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/j.ajpath.2015.09.017","article-title":"Retinal dystrophy and optic nerve pathology in the mouse model of mucolipidosis IV","volume":"186","author":"Grishchuk","year":"2016","journal-title":"Am J Pathol."},{"issue":"1","key":"B29-20250930","doi-asserted-by":"crossref","first-page":"14133","DOI":"10.1038\/s41598-018-32389-z","article-title":"Vps34\/PI3KC3 deletion in kidney proximal tubules impairs apical trafficking and blocks autophagic flux, causing a Fanconi-like syndrome and renal insufficiency","volume":"8","author":"Grieco","year":"2018","journal-title":"Sci Rep."},{"issue":"1","key":"B30-20250930","doi-asserted-by":"crossref","first-page":"3911","DOI":"10.1038\/s41467-023-39643-7","article-title":"Loss of the batten disease protein CLN3 leads to mis-trafficking of M6PR and defective autophagic-lysosomal reformation","volume":"14","author":"Calcagni\u2019","year":"2023","journal-title":"Nat Commun."},{"issue":"4","key":"B31-20250930","doi-asserted-by":"crossref","first-page":"1173","DOI":"10.1053\/j.gastro.2018.11.032","article-title":"Activation of autophagy, observed in liver tissues from patients with wilson disease and from ATP7B-deficient animals, protects hepatocytes from copper-induced apoptosis","volume":"156","author":"Polishchuk","year":"2019","journal-title":"Gastroenterology."},{"issue":"6","key":"B32-20250930","doi-asserted-by":"crossref","first-page":"1339","DOI":"10.1681\/ASN.2020010031","article-title":"Dysregulation of principal cell miRNAs facilitates epigenetic regulation of AQP2 and results in nephrogenic diabetes insipidus","volume":"32","author":"Petrillo","year":"2021","journal-title":"J Am Soc Nephrol."},{"issue":"10","key":"B33-20250930","doi-asserted-by":"crossref","first-page":"908","DOI":"10.1093\/hmg\/ddab093","article-title":"MCOLN1 gene therapy corrects neurologic dysfunction in the mouse model of mucolipidosis IV","volume":"30","author":"DeRosa","year":"2021","journal-title":"Hum Mol Genet."},{"issue":"11","key":"B34-20250930","doi-asserted-by":"crossref","first-page":"1254","DOI":"10.1038\/ki.2011.31","article-title":"Transcutaneous assessment of renal function in conscious rats with a device for measuring FITC-sinistrin disappearance curves","volume":"79","author":"Schock-Kusch","year":"2011","journal-title":"Kidney Int."},{"issue":"2","key":"B35-20250930","doi-asserted-by":"crossref","first-page":"F476","DOI":"10.1152\/ajprenal.00363.2006","article-title":"A primary culture of mouse proximal tubular cells, established on collagen-coated membranes","volume":"293","author":"Terryn","year":"2007","journal-title":"Am J Physiol Renal Physiol."},{"issue":"720","key":"B36-20250930","doi-asserted-by":"crossref","first-page":"eabn4214","DOI":"10.1126\/scitranslmed.abn4214","article-title":"The SGLT2 inhibitor dapagliflozin improves kidney function in glycogen storage disease XI","volume":"15","author":"Trepiccione","year":"2023","journal-title":"Sci Transl Med."},{"issue":"1","key":"B37-20250930","doi-asserted-by":"crossref","first-page":"5630","DOI":"10.1038\/s41467-019-13572-w","article-title":"TRPML1 links lysosomal calcium to autophagosome biogenesis through the activation of the CaMKK\u03b2\/VPS34 pathway","volume":"10","author":"Scotto Rosato","year":"2019","journal-title":"Nat Commun."},{"issue":"5","key":"B38-20250930","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1016\/j.devcel.2013.08.003","article-title":"A TRP channel in the lysosome regulates large particle phagocytosis via focal exocytosis","volume":"26","author":"Samie","year":"2013","journal-title":"Dev Cell."},{"issue":"3","key":"B39-20250930","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1042\/BST20140311","article-title":"Regulation of TRPML1 function","volume":"43","author":"Waller-Evans","year":"2015","journal-title":"Biochem Soc Trans."},{"issue":"12","key":"B40-20250930","doi-asserted-by":"crossref","first-page":"e1004833","DOI":"10.1371\/journal.pgen.1004833","article-title":"Mucolipin co-deficiency causes accelerated endolysosomal vacuolation of enterocytes and failure-to-thrive from birth to weaning","volume":"10","author":"Remis","year":"2014","journal-title":"PLoS Genet."},{"issue":"1","key":"B41-20250930","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/S0002-9440(10)64357-X","article-title":"Podocin localizes in the kidney to the slit diaphragm area","volume":"160","author":"Roselli","year":"2002","journal-title":"Am J Pathol."},{"issue":"1","key":"B42-20250930","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1038\/s41467-017-02536-7","article-title":"Impaired autophagy bridges lysosomal storage disease and epithelial dysfunction in the kidney","volume":"9","author":"Festa","year":"2018","journal-title":"Nat Commun."},{"issue":"2","key":"B43-20250930","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1080\/0968768031000089546","article-title":"Membrane dynamics and the biogenesis of lysosomes","volume":"20","author":"Luzio","year":"2003","journal-title":"Mol Membr Biol."},{"issue":"11","key":"B44-20250930","doi-asserted-by":"crossref","first-page":"1867","DOI":"10.1093\/ndt\/17.11.1867","article-title":"Megalin and cubilin--the story of two multipurpose receptors unfolds","volume":"17","author":"Verroust","year":"2002","journal-title":"Nephrol Dial Transplant."},{"key":"B45-20250930","doi-asserted-by":"crossref","first-page":"11550","DOI":"10.1038\/ncomms11550","article-title":"The fast-recycling receptor Megalin defines the apical recycling pathway of epithelial cells","volume":"7","author":"Perez Bay","year":"2016","journal-title":"Nat Commun."},{"issue":"8","key":"B46-20250930","doi-asserted-by":"crossref","first-page":"1333","DOI":"10.1038\/sj.ki.5000272","article-title":"Characterization of proteinuria and tubular protein uptake in a new model of oral L-lysine administration in rats","volume":"69","author":"Thelle","year":"2006","journal-title":"Kidney Int."},{"issue":"9","key":"B47-20250930","doi-asserted-by":"crossref","first-page":"1456","DOI":"10.1093\/ndt\/gfu377","article-title":"Renal Fanconi syndrome: taking a proximal look at the nephron","volume":"30","author":"Klootwijk","year":"2015","journal-title":"Nephrol Dial Transplant."},{"issue":"6","key":"B48-20250930","doi-asserted-by":"crossref","first-page":"e0178796","DOI":"10.1371\/journal.pone.0178796","article-title":"Megalin dependent urinary cystatin C excretion in ischemic kidney injury in rats","volume":"12","author":"Jensen","year":"2017","journal-title":"PLoS One."},{"issue":"11","key":"B49-20250930","doi-asserted-by":"crossref","first-page":"108312","DOI":"10.1016\/j.jdiacomp.2022.108312","article-title":"Urinary A- and C-megalin predict progression of diabetic kidney disease: an exploratory retrospective cohort study","volume":"36","author":"Iida","year":"2022","journal-title":"J Diabetes Complications."},{"issue":"6","key":"B51-20250930","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1038\/ki.1981.200","article-title":"The Fanconi syndrome and mechanisms of tubular transport dysfunction","volume":"20","author":"Roth","year":"1981","journal-title":"Kidney Int."},{"issue":"2","key":"B52-20250930","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1038\/nrneph.2016.182","article-title":"The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives","volume":"13","author":"Cherqui","year":"2017","journal-title":"Nat Rev Nephrol."},{"issue":"15","key":"B53-20250930","doi-asserted-by":"crossref","first-page":"2725","DOI":"10.1093\/hmg\/ddy182","article-title":"Fingolimod phosphate inhibits astrocyte inflammatory activity in mucolipidosis IV","volume":"27","author":"Weinstock","year":"2018","journal-title":"Hum Mol Genet."},{"issue":"1","key":"B54-20250930","doi-asserted-by":"crossref","first-page":"3997","DOI":"10.1038\/s41467-023-39716-7","article-title":"Induction of lysosomal exocytosis and biogenesis via TRPML1 activation for the treatment of uranium-induced nephrotoxicity","volume":"14","author":"Zhong","year":"2023","journal-title":"Nat Commun."},{"issue":"225","key":"B55-20250930","doi-asserted-by":"crossref","first-page":"225","DOI":"10.3389\/fimmu.2020.00225","article-title":"TRPML cation channels in inflammation and immunity","volume":"11","author":"Spix","year":"2020","journal-title":"Front Immunol."},{"key":"B56-20250930","doi-asserted-by":"crossref","first-page":"102013","DOI":"10.1016\/j.redox.2021.102013","article-title":"Regulation of TRPML1 channel activity and inflammatory exosome release by endogenously produced reactive oxygen species in mouse podocytes","volume":"43","author":"Li","year":"2021","journal-title":"Redox Biol."},{"issue":"5","key":"B57-20250930","doi-asserted-by":"crossref","first-page":"918","DOI":"10.1016\/j.cell.2007.07.009","article-title":"NF-kappaB is a negative regulator of IL-1beta secretion as revealed by genetic and pharmacological inhibition of IKKbeta","volume":"130","author":"Greten","year":"2007","journal-title":"Cell."},{"issue":"9","key":"B58-20250930","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1369\/0022155419849388","article-title":"Extracellular matrix in kidney fibrosis: more than just a scaffold","volume":"67","author":"B\u00fclow","year":"2019","journal-title":"J Histochem Cytochem."},{"issue":"9","key":"B59-20250930","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1369\/0022155419852932","article-title":"Renal inflammation and fibrosis: a double-edged sword","volume":"67","author":"Black","year":"2019","journal-title":"J Histochem Cytochem."},{"issue":"3","key":"B60-20250930","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1016\/j.kint.2019.08.029","article-title":"A collagen-binding protein enables molecular imaging of kidney fibrosis in vivo","volume":"97","author":"Baues","year":"2020","journal-title":"Kidney Int."},{"issue":"4","key":"B61-20250930","doi-asserted-by":"crossref","first-page":"2650","DOI":"10.4049\/jimmunol.180.4.2650","article-title":"Regulation of alternative macrophage activation by galectin-3","volume":"180","author":"MacKinnon","year":"2008","journal-title":"J Immunol."},{"issue":"119","key":"B62-20250930","doi-asserted-by":"crossref","first-page":"S22","DOI":"10.1038\/ki.2010.418","article-title":"Mechanistic connection between inflammation and fibrosis","volume":"78","author":"Lee","year":"2010","journal-title":"Kidney Int."},{"issue":"2","key":"B63-20250930","doi-asserted-by":"crossref","first-page":"288","DOI":"10.2353\/ajpath.2008.070726","article-title":"Galectin-3 expression and secretion links macrophages to the promotion of renal fibrosis","volume":"172","author":"Henderson","year":"2008","journal-title":"Am J Pathol."},{"issue":"2","key":"B64-20250930","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1016\/j.kint.2019.01.029","article-title":"Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis","volume":"96","author":"Lobry","year":"2019","journal-title":"Kidney Int."},{"issue":"16","key":"B65-20250930","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1186\/1750-1172-1-16","article-title":"Lowe syndrome","volume":"1","author":"Loi","year":"2006","journal-title":"Orphanet J Rare Dis."},{"issue":"8","key":"B66-20250930","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1038\/ncb3386","article-title":"Autophagosome\u2013lysosome fusion triggers a lysosomal response mediated by TLR9 and controlled by OCRL","volume":"18","author":"De Leo","year":"2016","journal-title":"Nat Cell Biol."}],"container-title":["Journal of the American Society of Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.1681\/ASN.0000000567","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T19:42:13Z","timestamp":1786131733000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.1681\/ASN.0000000567"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,4]]},"references-count":64,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025]]}},"URL":"https:\/\/doi.org\/10.1681\/asn.0000000567","relation":{},"ISSN":["1046-6673","1533-3450"],"issn-type":[{"value":"1046-6673","type":"print"},{"value":"1533-3450","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,12,4]]},"assertion":[{"value":"2024-07-25","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-11-27","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}