Visualitza per autoria "Kohlschmidt, Nicolai"

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  • Molecular pathophysiology of human MICU1 deficiency
    Kohlschmidt, Nicolai; Elbracht, Miriam; Czech, Artur; Häusler, Martin; Phan, Vietxuan; Töpf, Ana; Huang, Kai-Ting; Bartok, Adam; Eggermann, Katja; Zippel, Stephanie; Eggermann, Thomas; Freier, Erik; Groß, Claudia; Lochmüller, Hanns; Horvath, Rita; Hajnóczky, György; Weis, Joachim; Roos, Andreas (Wiley, 2021)
    Aims: MICU1 encodes the gatekeeper of the mitochondrial Ca2+ uniporter, MICU1 and biallelic loss-of-function mutations cause a complex, neuromuscular disorder in children. Although the role of the protein is well understood, ...
  • Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects
    Arlt, Annabelle; Kohlschmidt, Nicolai; Hentschel, Andreas; Bartels, Enrika; Groß, Claudia; Töpf, Ana; Edem, Pinar; Szabo, Nora; Sickmann, Albert; Meyer, Nancy; Schara-Schmidt, Ulrike; Lau, Jarred; Lochmüller, Hanns; Horvath, Rita; Oktay, Yavuz; Roos, Andreas; Hiz, Semra (BioMed Central, 2022)
    Background: Goltz syndrome (GS) is a X-linked disorder defined by defects of mesodermal- and ectodermal-derived structures and caused by PORCN mutations. Features include striated skin-pigmentation, ocular and skeletal ...

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