Research ArticleKidney Disease

Kidney disease genetic risk variants alter lysosomal beta-mannosidase (MANBA) expression and disease severity

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Science Translational Medicine  13 Jan 2021:
Vol. 13, Issue 576, eaaz1458
DOI: 10.1126/scitranslmed.aaz1458

Article Information

vol. 13 no. 576

PubMed: 
Print ISSN: 
Online ISSN: 
History: 
  • Received for publication August 20, 2019
  • Resubmitted April 8, 2020
  • Accepted for publication December 9, 2020
  • .

Author Information

  1. Xiangchen Gu1,2,*,
  2. Hongliu Yang1,3,*,
  3. Xin Sheng1,*,
  4. Yi-An Ko1,
  5. Chengxiang Qiu1,
  6. Jihwan Park1,
  7. Shizheng Huang1,
  8. Rachel Kember4,
  9. Renae L. Judy5,
  10. Joseph Park4,6,
  11. Scott M. Damrauer5,7,
  12. Girish Nadkarni8,9,10,
  13. Ruth J. F. Loos9,
  14. Vy Thi Ha My9,
  15. Kumardeep Chaudhary9,
  16. Erwin P. Bottinger9,10,
  17. Ishan Paranjpe9,
  18. Aparna Saha9,
  19. Christopher Brown6,
  20. Shreeram Akilesh11,
  21. Adriana M. Hung12,13,
  22. Matthew Palmer14,
  23. Aris Baras15,
  24. John D. Overton15,
  25. Jeffrey Reid15,
  26. Marylyn Ritchie4,6,
  27. Daniel J. Rader1,4,6 and
  28. Katalin Susztak1,6,
  1. 1Department of Medicine Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  2. 2Division of Nephrology, Yueyang Hospital of Integrative Traditional Chinese and Western Medicine, Affiliated to Shanghai University of Traditional Chinese Medicine, Shanghai 200437, China.
  3. 3Division of Nephrology, West China Hospital of Sichuan University, Chengdu 610041, China.
  4. 4Institute for Translational Medicine and Therapeutics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
  5. 5Department of Surgery, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
  6. 6Department of Genetics Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  7. 7Corporal Michael J. Crescenz VA Medical Center, Philadelphia, PA 19104, USA.
  8. 8Division of Nephrology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
  9. 9The Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
  10. 10The Hasso Plattner Institute of Digital Health, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
  11. 11Department of Pathology, University of Washington, Seattle, WA 98195, USA.
  12. 12Nashville VA Medical Center, Nashville, TN 37212, USA.
  13. 13Vanderbilt Center for Kidney Disease, Vanderbilt University Medical Center, Nashville, TN 37212, USA.
  14. 14Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
  15. 15Regeneron Genetics Center (RGC), 777 Old Saw Mill River Rd., Tarrytown, NY 10591, USA.
  1. Corresponding author. Email: ksusztak{at}pennmedicine.upenn.edu
  • * These authors contributed equally to this work.

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