Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice

Author:

Majmundar Amar J.1ORCID,Buerger Florian1ORCID,Forbes Thomas A.234ORCID,Klämbt Verena1,Schneider Ronen1ORCID,Deutsch Konstantin1ORCID,Kitzler Thomas M.15,Howden Sara E.23,Scurr Michelle2,Tan Ker Sin2,Krzeminski Mickaël6,Widmeier Eugen1ORCID,Braun Daniela A.1,Lai Ethan1,Ullah Ihsan1ORCID,Amar Ali1ORCID,Kolb Amy1ORCID,Eddy Kaitlyn1,Chen Chin Heng1,Salmanullah Daanya1ORCID,Dai Rufeng1,Nakayama Makiko1,Ottlewski Isabel1,Kolvenbach Caroline M.1ORCID,Onuchic-Whitford Ana C.17ORCID,Mao Youying1,Mann Nina1,Nabhan Marwa M.8,Rosen Seymour9,Forman-Kay Julie D.610ORCID,Soliman Neveen A.8ORCID,Heilos Andreas11,Kain Renate12ORCID,Aufricht Christoph11,Mane Shrikant13ORCID,Lifton Richard P.1314,Shril Shirlee1ORCID,Little Melissa H.23ORCID,Hildebrandt Friedhelm1ORCID

Affiliation:

1. Department of Medicine, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA.

2. Kidney Development, Disease and Regeneration Group, Murdoch Children’s Research Institute, Parkville, Victoria, Australia.

3. Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.

4. Department of Nephrology, Royal Children’s Hospital, Parkville, Victoria, Australia.

5. The Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.

6. Molecular Medicine Program, The Hospital for Sick Children, Toronto, ON, Canada.

7. Renal Division, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA, USA.

8. Department of Pediatrics, Center for Pediatric Nephrology and Transplantation, Kasr Al Ainy Medical School, Cairo University, Cairo, Egypt.

9. Department of Pathology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA.

10. Department of Biochemistry, University of Toronto, Toronto, ON, Canada.

11. Department of Pediatrics, Medical University of Vienna, Vienna, Austria.

12. Department of Pathology, Medical University of Vienna, Vienna, Austria.

13. Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.

14. Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA.

Abstract

NOS1AP variants impair actin remodeling in podocytes and cause glomerular disease in humans, kidney organoids, and mice.

Funder

National Institutes of Health

National Human Genome Research Institute

National Institute of Diabetes and Digestive and Kidney Diseases

American Society of Nephrology

Harvard Stem Cell Institute

National Health and Medical Research Council

Victorian Government’s Operational Infrastructure Support Program

Stafford Fox Foundation

Methuselah Foundation

Organovo Inc

German National Academy of Sciences

Natural Sciences and Engineering Research Council of Canada

Deutsche Forschungsgemeinschaft

Royal Australasian College of Physicians Jacquot Award

GSP Coordinating Center

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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