Forskning
Udskriv Udskriv
Switch language
Rigshospitalet - en del af Københavns Universitetshospital
Udgivet

Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?

    Publikation: Bidrag til tidsskriftLetterForskningpeer review

  2. The Natural History of Hearing Loss in Pendred Syndrome and Non-Syndromic Enlarged Vestibular Aqueduct

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Cochlear implantation in a 10-year old boy with Pendred syndrome and extremely enlarged endolymphatic sacs

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  • Tina Storm
  • Lisbeth Tranebjærg
  • Carina Frykholm
  • Henrik Birn
  • Pierre J. Verroust
  • Tryggve Nevéus
  • Birgitta Sundelin
  • Jens Michael Hertz
  • Gerd Holmström
  • Katharina Ericson
  • Erik I Christensen
  • Rikke Skovgaard Nielsen
Vis graf over relationer
The reabsorption of filtered plasma proteins, hormones and vitamins by the renal proximal tubules is vital for body homeostasis. Studies of megalin-deficient mice suggest that the large multi-ligand endocytic receptor megalin plays an essential role in this process. In humans, dysfunctional megalin causes the extremely rare Donnai-Barrow/Facio-Oculo-Acustico-Renal (DB/FOAR) syndrome characterized by a characteristic and multifaceted phenotype including low-molecular-weight proteinuria. In this study, we examined the role of megalin for tubular protein reabsorption in humans through analysis of proximal tubular function in megalin-deficient patients.
OriginalsprogEngelsk
TidsskriftNephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
Vol/bind28
Udgave nummer3
Sider (fra-til)585-91
Antal sider7
ISSN0931-0509
DOI
StatusUdgivet - mar. 2013

ID: 42847400