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Showing 1–6 of 6 results
Advanced filters: Author: Carolin E. Sadowski Clear advanced filters

  • Steroid-sensitive nephrotic syndrome (SRNS) can cause CKD and necessitate kidney transplant. Here the authors identify FAT1 mutations by homozygosity mapping and whole-exome sequencing in families with SRNS and provide functional mouse and zebrafish evidence that FAT1 is required for normal glomerular and tubular function and that FAT1 mutations can cause SRNS.

    • Heon Yung Gee
    • Carolin E. Sadowski
    • Friedhelm Hildebrandt
    ResearchOpen Access
    Nature Communications
    Volume: 7, P: 1-11

  • Nephrotic syndrome is the second most common chronic kidney disease but there are no targeted treatment strategies available. Here the authors identify mutations of six genes codifying for proteins involved in cytoskeleton remodelling and modulation of small GTPases in 17 families with nephrotic syndrome.

    • Shazia Ashraf
    • Hiroki Kudo
    • Friedhelm Hildebrandt
    ResearchOpen Access
    Nature Communications
    Volume: 9, P: 1-14

  • Cholesterol is important for axonal myelination during development. Here the authors show that cholesterol levels are reduced in a cuprizone mouse model of multiple sclerosis and that dietary cholesterol supplementation enhances remyelination and recovery.

    • Stefan A. Berghoff
    • Nina Gerndt
    • Gesine Saher
    ResearchOpen Access
    Nature Communications
    Volume: 8, P: 1-15

  • In Alzheimer’s disease, neurons are considered the sole source of amyloid-β (Aβ) peptides that form plaques. Here the authors show that oligodendrocytes, the myelinating glial cells of the brain, also contribute to Aβ plaque burden alongside neurons.

    • Andrew Octavian Sasmita
    • Constanze Depp
    • Klaus-Armin Nave
    ResearchOpen Access
    Nature Neuroscience
    Volume: 27, P: 1668-1674

  • Martin Zenker, Corinne Antignac, Friedhelm Hildebrandt and colleagues report that mutations in OSGEP, TP53RK, TPRKB and LAGE3, genes encoding KEOPS-complex subunits, cause Galloway–Mowat syndrome, a recessive disease characterized by early-onset steroid-resistant nephrotic syndrome and microcephaly. Functional studies suggest that the phenotypes result from impaired protein translation, thus leading to endoplasmic reticulum stress and apoptosis.

    • Daniela A Braun
    • Jia Rao
    • Friedhelm Hildebrandt
    Research
    Nature Genetics
    Volume: 49, P: 1529-1538