ArticleNature communications2016
FAT1 mutations cause a glomerulotubular nephropathy.
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Article in Nature communications, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 73 papers, 1 of them a synthesis that pooled it.
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73citing papers in PubMed, 1 pooled it
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Who cites it
73 citing papers in PubMed, 1 synthesis or guideline pooled it, 129 citations in OpenAlex.
- Genetic and environmental factors associated with alteration of filtration slit proteins and their functions: a scoping review.Frontiers in nephrology · 2025Pooled it
- Integrative gene target mapping, RNA sequencing, in silico molecular docking, ADMET profiling and molecular dynamics simulation study of marine derived molecules for type 1 diabetes mellitus.Molecular diversity · 2026Article
- Protocadherin FAT1-associated membranous nephropathy after hematopoietic stem cell transplantation-a cohort study with clinico-pathological correlations.Clinical kidney journal · 2026Article
- Integrative analysis of DNA methylation and inflammatory protein biomarkers in hypertension.Frontiers in immunology · 2026Article
- Emerging Role of FAT Atypical Cadherin 1 in Kidney Function and Disease.Journal of the American Society of Nephrology : JASN · 2026Article
- HomozygousRenal failure · 2025Article
- Mechanisms of podocyte injury in genetic kidney disease.Pediatric nephrology (Berlin, Germany) · 2025Review
- When should the nephrologist think about genetics in patients with glomerular diseases?Clinical kidney journal · 2025Review
- Nucleoporin-associated steroid-resistant nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2025Review
- Zebrafish as a model for human epithelial pathology.Laboratory animal research · 2025Review
- Interacting Fat1 and Dchs Planar Cell Polarity Proteins Supported by Fjx1 Serve as Heterodimeric Intercellular Bridges Crucial to Support Spermatogenesis.Advances in experimental medicine and biology · 2025Review
- Genetic heterogeneity in familial forms of genetic generalized epilepsy: from mono- to oligogenism.Human genomics · 2024Article
- Concurrent glomerular PCDH7 deposits in PLA2R-associated membranous nephropathy.CEN case reports · 2024Article
- Exploring the impact of GSTM1 as a novel molecular determinant of survival in head and neck cancer patients of African descent.Journal of experimental & clinical cancer research : CR · 2024Article
- Machine Learning-Based Classification of Transcriptome Signatures of Non-Ulcerative Bladder Pain Syndrome.International journal of molecular sciences · 2024Article
- Rs4862705 in the melatonin receptor 1A gene is associated with renal function decline in type 1 diabetes individuals.Frontiers in endocrinology · 2024Article
- Review
- Endothelial FAT1 inhibits angiogenesis by controlling YAP/TAZ protein degradation via E3 ligase MIB2.Nature communications · 2023Article
- A novel variant affecting the cytoplasmic tail of the FAT1 protocadherin causing coloboma and renal failure: A case report.Ophthalmic genetics · 2023Article
- Loss of surface transport is a main cellular pathomechanism of CRB2 variants causing podocytopathies.Life science alliance · 2023Article
13 more citing papers are in PubMed but not listed here.
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Authors and funding
42 authors at 20 institutions in 10 countries.
Heon Yung GeeDivision of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.
Carolin E SadowskiDivision of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.
Pardeep K AggarwalDepartment of Pediatrics, Yale University School of Medicine, New Haven, Connecticut 06520, USA.
Jonathan D PorathDivision of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.
Toma A YakulovUniversity Freiburg Medical Center, Freiburg 79106, Germany.
Markus SchuelerDivision of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.
Svjetlana LovricDivision of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.
Shazia AshrafDivision of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.
Daniela A BraunDivision of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.
Jan HalbritterDivision of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.
Humphrey FangDivision of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.
Rannar AirikDivision of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.
Virginia Vega-WarnerDepartment of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109, USA.
Kyeong Jee ChoDepartment of Pharmacology, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine, Seoul 03722, Korea.
Timothy A ChanHuman Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA.
Luc G T MorrisHuman Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA.
Charles ffrench-ConstantMRC Centre for Regenerative Medicine, Multiple Sclerosis Society Centre for Translational Research, University of Edinburgh, Edinburgh EH16 4UU, UK.
Nicholas AllenSchool of Biosciences, Cardiff University, Museum Avenue, Cardiff CF10 3AX, UK.
Helen McNeillDepartment of Molecular Genetics, Samuel Lunenfeld-Tanenbaum Research Institute, University of Toronto, Mount Sinai Hospital, Toronto, Ontario, Canada M5G 1X5.
Rainer BüscherDepartment of Pediatrics II, University Hospital of Essen, Essen 45147, Germany.
Henriette KyrieleisDepartment of Pediatrics, Bethanien Hospital, Moers 47441, Germany.
Michael WallotDepartment of Pediatrics, Bethanien Hospital, Moers 47441, Germany.
Ariana GaspertInstitute of Surgical Pathology, University Hospital Zurich, Zurich 8091, Switzerland.
Thomas KistlerDivision of Nephrology, Kantonsspital Winterthur, Winterthur 8401, Switzerland.
David V MilfordDepartment of Paediatric Nephrology, Birmingham Children's Hospital, Birmingham B4 6NH, UK.
Moin A SaleemChildren's and Academic Renal Unit, University of Bristol, Bristol BS1 5NB, UK.
Wee Teik KengDepartment of Genetics, Hospital Kuala Lumpur, Kuala Lumpur 50586, Malaysia.
Stephen I AlexanderCentre for Kidney Research, Children's Hospital at Westmead, Westmead 2145, Australia.
Rudolph P ValentiniDepartment of Pediatrics, Division of Pediatric Nephrology, Children's Hospital of Michigan/Wayne State University, Detroit, Michigan 48201, USA.
Christoph LichtDivision of Nephrology, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada M5G 1X8.
Jun C TehDivision of Nephrology, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada M5G 1X8.
Radovan BogdanovicInstitute for Mother and Child Health Care of Serbia "Dr Vukan Čupić", Department of Nephrology, University of Belgrade, Faculty of Medicine, Belgrade 11000, Serbia.
Ania KoziellDepartment of Experimental Immunobiology, Division of Transplantation Immunology &Mucosal Biology, King's College London, Faculty of Life Sciences &Medicine, 5th floor Tower Wing, Guy's Hospital, Great Maze Pond, London SE1 9RT, UK.
Agnieszka BierzynskaChildren's and Academic Renal Unit, University of Bristol, Bristol BS1 5NB, UK.
Neveen A SolimanDepartment of Pediatrics, Center of Pediatric Nephrology &Transplantation, Kasr Al Ainy School of Medicine, Cairo University, Cairo 11562, Egypt.
Edgar A OttoDepartment of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109, USA.ORCID http://orcid.org/0000-0002-2387-9973
Richard P LiftonDepartment of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520, USA.
Lawrence B HolzmanRenal-Electrolyte and Hypertension Division, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
Nicholas E S SibingaWilf Family Cardiovascular Research Institute and Department of Medicine/Cardiology, Albert Einstein College of Medicine, Bronx, New York 10461, USA.
Gerd WalzUniversity Freiburg Medical Center, Freiburg 79106, Germany.
Alda TufroDepartment of Pediatrics, Yale University School of Medicine, New Haven, Connecticut 06520, USA.
Friedhelm HildebrandtDivision of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.
Boston Children's Hospital · USKrankenhaus Bethanien · DEMemorial Sloan Kettering Cancer Center · USUniversity Medical Center Freiburg · DEUniversity of Bristol · GBUniversity of Michigan · USUniversity of Toronto · CAYale University · USAlbert Einstein College of Medicine · USBirmingham Children's Hospital · GBCairo University · EGCardiff University · GBChildren's Hospital at Westmead · AUEssen University Hospital · DEGuy's Hospital · GBHospital Kuala Lumpur · MYHoward Hughes Medical Institute · USKantonsspital Winterthur · CHMount Sinai Hospital · CAMultiple Sclerosis Society · GB
Funding
X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4MWORD PROCESSORP30CA013330 · NCI · YESHIVA UNIVERSITY · PI THOMAS E ROHAN · 1985 to 2026
$111.2MRenal Physiology and Phenotyping CoreP30DK079310 · NIDDK · YALE UNIVERSITY · PI ARONSON, PETER S. · 2008 to 2022
$16.8MYale Center for Mendelian GenomicsUM1HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2016 to 2020
$14.8MNovel genetics, pathobiology & therapy of nephronophthisis-related ciliopathiesR01DK068306 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI HILDEBRANDT, FRIEDHELM · 2004 to 2022
$6.6MIdentification and function of new genes causing childhood nephrotic syndromeR01DK076683 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI HILDEBRANDT, FRIEDHELM · 2007 to 2021
$5.3MSlit Diaphragm and Actin DynamicsR01DK080751 · NIDDK · UNIVERSITY OF PENNSYLVANIA · PI HOLZMAN, LAWRENCE B. · 2008 to 2017
$3.6MKidney Vascularization-- VEGF-mediated MechanismsR01DK059333 · NIDDK · YESHIVA UNIVERSITY · PI TUFRO, ALDA · 2001 to 2011
$2.9MThe Fat1 Cadherin in Atherosclerotic Vascular DiseaseR01HL104518 · NHLBI · ALBERT EINSTEIN COLLEGE OF MEDICINE · PI SIBINGA, NICHOLAS E · 2011 to 2014
$1.6MIdentifying all Meckel-like ciliopathy genes by established total exome capture aRC4DK090917 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI OTTO, EDGAR A · 2010 to 2010
$1.2MFunction of semaphorin3a in diabetic nephropathyR01DK098824 · NIDDK · YALE UNIVERSITY · PI TUFRO, ALDA · 2013 to 2016
$999kFunctionalizing recurrent FAT1 mutations and deletions in oral cancerK08DE024774 · NIDCR · SLOAN-KETTERING INST CAN RESEARCH · PI MORRIS, LUC GORDON TRANG · 2014 to 2018
$682kHoward Hughes Medical InstituteMedical Research Council G0800571Medical Research Council MR/J006742/1NCI NIH HHS P30 CA008748NCI NIH HHS P30 CA013330NHGRI NIH HHS UM1 HG006504NHLBI NIH HHS HL104518NHLBI NIH HHS R01 HL104518NIDCR NIH HHS K08 DE024774NIDDK NIH HHS DK059333NIDDK NIH HHS DK068306NIDDK NIH HHS DK076683NIDDK NIH HHS DK090917NIDDK NIH HHS P30 DK079310NIDDK NIH HHS R01 DK059333NIDDK NIH HHS R01 DK068306NIDDK NIH HHS R01 DK076683NIDDK NIH HHS R01 DK080751NIDDK NIH HHS R01 DK098824NIDDK NIH HHS RC4 DK090917
Abstract
Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease (CKD). Here we show that recessive mutations in FAT1 cause a distinct renal disease entity in four families with a combination of SRNS, tubular ectasia, haematuria and facultative neurological involvement. Loss of FAT1 results in decreased cell adhesion and migration in fibroblasts and podocytes and the decreased migration is partially reversed by a RAC1/CDC42 activator. Podocyte-specific deletion of Fat1 in mice induces abnormal glomerular filtration barrier development, leading to podocyte foot process effacement. Knockdown of Fat1 in renal tubular cells reduces migration, decreases active RAC1 and CDC42, and induces defects in lumen formation. Knockdown of fat1 in zebrafish causes pronephric cysts, which is partially rescued by RAC1/CDC42 activators, confirming a role of the two small GTPases in the pathogenesis. These findings provide new insights into the pathogenesis of SRNS and tubulopathy, linking FAT1 and RAC1/CDC42 to podocyte and tubular cell function.
Indexed as
AnimalsCadherinscdc42 GTP-Binding ProteinCell AdhesionCell MovementDilatation, PathologicFibroblastsGene Knockdown TechniquesHematuriaHumansKidney TubulesLissencephalyMiceMutationNephrotic SyndromePodocytesCadherinscdc42 GTP-Binding Proteinfat1a protein, zebrafishFAT1 protein, humanfat1 protein, mouserac1 GTP-Binding ProteinZebrafish Proteins
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