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Showing 1–13 of 13 results
Advanced filters: Author: "Olivier Devuyst" Clear advanced filters
  • Variation in the promoter of the gene encoding uromodulin, the most abundant protein in urine, affects the individual risk of developing hypertension or chronic kidney disease. Luca Rampoldi, Olivier Devuyst and their colleagues show that the uromodulin risk alleles are associated with higher levels of uromodulin expression. This can promote hypertension, by stimulating sodium reabsorption by the loop of Henle in the kidney, and kidney damage in both mice and humans.

    • Matteo Trudu
    • Sylvie Janas
    • Luca Rampoldi
    Research
    Nature Medicine
    Volume: 19, P: 1655-1660
  • Cystinosis is a lysosomal storage disease that affects the kidney. Here, the authors use preclinical models and advanced profiling techniques to discover the mechanism by which defective cystine mobilization from lysosomes disrupts kidney cell function, offering insights into potential therapies.

    • Marine Berquez
    • Zhiyong Chen
    • Alessandro Luciani
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-21
  • Nephropathic cystinosis is a lysosomal storage disease characterized by proximal tubular cell dysfunction. Here Festa and colleagues show that these lysosomal alterations lead to defective autophagic clearance of mitochondria and increased oxidative stress that, in turn, activates the transcription factor ZONAB leading to impaired cell differentiation.

    • Beatrice Paola Festa
    • Zhiyong Chen
    • Alessandro Luciani
    ResearchOpen Access
    Nature Communications
    Volume: 9, P: 1-17
  • Methylmalonic acidemia is an inherited metabolic disease caused by loss or mutation of the enzyme MMUT. Here the authors use cell and animal models to show that MMUT mutations lead to defective mitophagy and stress in kidney cells, contributing to the pathogenesis in methylmalonic acidemia patients.

    • Alessandro Luciani
    • Anke Schumann
    • Olivier Devuyst
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-21
  • Recessive loss-of-function mutations in genes involved in renal NaCl handling cause rare diseases characterized by salt wasting and reduced blood pressure of variable severity. A new study shows that the carrier state for rare inactivating mutations in three genes involved in NaCl transport in the kidney is associated with a significant blood pressure reduction and a reduced risk of hypertension in the general population.

    • Olivier Devuyst
    News & Views
    Nature Genetics
    Volume: 40, P: 495-496
  • Uromodulin is the most abundant urinary protein. Here, the authors discuss the physiological roles of uromodulin, the mechanisms by which mutations in theUMOD gene, which encodes uromodulin, cause autosomal dominant tubulointerstitial kidney disease and the association of common UMODvariants with complex disorders in the general population.

    • Olivier Devuyst
    • Eric Olinger
    • Luca Rampoldi
    Reviews
    Nature Reviews Nephrology
    Volume: 13, P: 525-544
  • Technical advances in genome sequencing and association studies have yielded critical insights into the genetic architecture of kidney diseases. Here, I summarize four key studies from 2017 that deciphered the genetic basis of known and novel diseases and provided insights into the mechanisms of glomerular, developmental defects and manifestations of kidney disorders.

    • Olivier Devuyst
    News & Views
    Nature Reviews Nephrology
    Volume: 14, P: 80-82
  • Renal transplantation is the preferred treatment option for patients with autosomal dominant polycystic kidney disease (ADPKD) and end-stage renal disease. Here, the authors discuss special considerations for pretransplant screening and living-related kidney donation in patients with ADPKD, as well as post-transplant outcomes and complications in these patients.

    • Nada Kanaan
    • Olivier Devuyst
    • Yves Pirson
    Reviews
    Nature Reviews Nephrology
    Volume: 10, P: 455-465
  • Autosomal dominant tubulointerstitial disease (ADTKD) is an entity that includes rare kidney diseases caused by mutations in various genes that lead to inescapable progression to end-stage renal disease. This Primer highlights the different types of ADTKD and their distinct genetic and clinical features.

    • Olivier Devuyst
    • Eric Olinger
    • Anthony J. Bleyer
    Reviews
    Nature Reviews Disease Primers
    Volume: 5, P: 1-20
  • Dysfunction of endolysosomal pathways can lead to generalized dysfunction of the proximal tubule. Here, De Matteis and colleagues describe the role of the inositol polyphosphate 5-phosphatase, OCRL, in the endolysosomal pathway and how mutations in the encoding gene lead to the clinical manifestations of Lowe syndrome and Dent disease 2.

    • Maria Antonietta De Matteis
    • Leopoldo Staiano
    • Olivier Devuyst
    Reviews
    Nature Reviews Nephrology
    Volume: 13, P: 455-470