Lisbeth Birk Møller


Affiliation: Copenhagen University Hospital
Country: Denmark


  1. Møller L, Rea G, Yasmeen S, Skjørringe T, Thorborg S, Morrison P, et al. A silent nucleotide substitution in the ATP7A gene in a child with Menkes disease. Mol Genet Metab. 2013;110:490-2 pubmed publisher
    ..This is the first report of a synonymous ATP7A substitution being responsible for MD. ..
  2. Hey C, Saltõkowa K, Larsen L, Tumer Z, Brøndum Nielsen K, Grønskov K, et al. Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT. Stem Cell Res. 2018;33:46-50 pubmed publisher
    ..Here we describe the successful generation of an induced pluripotent stem cell (iPSC) line KCi002-A from a male with BBS, homozygous for the disease causing variant c.271insT, p.(Cys91fsX95) in BBS10. Resource table. ..
  3. Hey C, Saltõkowa K, Larsen L, Tumer Z, Brøndum Nielsen K, Grønskov K, et al. Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C. Stem Cell Res. 2018;31:235-239 pubmed publisher
    ..1169T>G, p. (Met390Arg)/c.1135G>C, p.(Gly370Arg). Resource table. ..
  4. Møller L. Small amounts of functional ATP7A protein permit mild phenotype. J Trace Elem Med Biol. 2015;31:173-7 pubmed publisher
    ..In conclusion, small amounts of copper at the right location seem to relieve the symptoms. ..
  5. Nasser A, Ali S, Wilsbech S, Bjerrum O, Møller L. Intraplantar injection of tetrahydrobiopterin induces nociception in mice. Neurosci Lett. 2015;584:247-52 pubmed publisher
    ..However, this appears not to be mediated through nitric oxide and prostaglandin release or by activation of the transient receptor potential vanilloid 1. ..
  6. Rosengren T, Larsen L, Pedersen L, Christensen S, Møller L. TSC1 and TSC2 regulate cilia length and canonical Hedgehog signaling via different mechanisms. Cell Mol Life Sci. 2018;75:2663-2680 pubmed publisher
    ..In summary, our results support distinct functions of Tsc1 and Tsc2 in cellular signaling as the two genes affect ciliary length control and HH signaling via different mechanisms. ..
  7. Møller L, Schönewolf Greulich B, Rosengren T, Larsen L, Ostergaard J, Sommerlund M, et al. Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex. Mol Genet Metab. 2017;120:384-391 pubmed publisher
    ..Furthermore, the finding establishes the pathogenic effect of the "silent" c.4149C>T substitution and emphasizes the need for awareness when interpreting silent substitutions in general. ..
  8. Skjørringe T, Amstrup Pedersen P, Salling Thorborg S, Nissen P, Gourdon P, Birk Møller L. Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease. Sci Rep. 2017;7:757 pubmed publisher