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Publication

Effects of Proximal Tubule Shortening on Protein Excretion in a Lowe Syndrome Model.

Megan L Gliozzi | Eugenel B Espiritu | Katherine E Shipman | Youssef Rbaibi | Kimberly R Long | Nairita Roy | Andrew W Duncan | Matthew J Lazzara | Neil A Hukriede | Catherine J Baty | Ora A Weisz
Journal of the American Society of Nephrology : JASN | 2020

Lowe syndrome (LS) is an X-linked recessive disorder caused by mutations in OCRL, which encodes the enzyme OCRL. Symptoms of LS include proximal tubule (PT) dysfunction typically characterized by low molecular weight proteinuria, renal tubular acidosis (RTA), aminoaciduria, and hypercalciuria. How mutant OCRL causes these symptoms isn't clear.

Pubmed ID: 31676724

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Associated grants

  • Agency: NIDDK NIH HHS, United States
    Id: R01 DK118726
  • Agency: NIDDK NIH HHS, United States
    Id: R01 DK101484
  • Agency: NIH HHS, United States
    Id: S10 OD021627
  • Agency: NIDDK NIH HHS, United States
    Id: P30 DK079307
  • Agency: NIDDK NIH HHS, United States
    Id: R01 DK069403
  • Agency: NIDDK NIH HHS, United States
    Id: R01 DK103645
  • Agency: NIDDK NIH HHS, United States
    Id: T32 DK061296
  • Agency: NIDDK NIH HHS, United States
    Id: F31 DK121394
  • Agency: NCATS NIH HHS, United States
    Id: TL1 TR001858

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RRID:CVCL_K278

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RRID:CVCL_0302

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