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@ARTICLE{MaityKumar:165526,
      author       = {Maity-Kumar, Gandhari and Ständer, Lisa and DeAngelis,
                      Meri and Lee, Sooyeon and Molenaar, Anna and Becker, Lore
                      and Garrett, Lillian and Amerie, Oana V and Hoelter, Sabine
                      M and Wurst, Wolfgang and Fuchs, Helmut and Feuchtinger,
                      Annette and Gailus-Durner, Valerie and Garcia-Caceres,
                      Cristina and Othman, Ahmed E and Brockmann, Caroline and
                      Schöffling, Vanessa I and Beiser, Katja and Krude, Heiko
                      and Mroz, Piotr A and Hofmann, Susanna and Tuckermann, Jan
                      and DiMarchi, Richard D and Hrabe de Angelis, Martin and
                      Tschöp, Matthias H and Pfluger, Paul T and Müller, Timo D},
      title        = {{V}alidation of {M}ct8/{O}atp1c1 d{KO} mice as a model
                      organism for the {A}llan-{H}erndon-{D}udley {S}yndrome.},
      journal      = {Molecular metabolism},
      volume       = {66},
      issn         = {2212-8778},
      address      = {Oxford [u.a.]},
      publisher    = {Elsevier},
      reportid     = {DZNE-2022-01672},
      pages        = {101616},
      year         = {2022},
      abstract     = {The Allan-Herndon-Dudley syndrome (AHDS) is a severe
                      disease caused by dysfunctional central thyroid hormone
                      transport due to functional loss of the monocarboxylate
                      transporter 8 (MCT8). In this study, we assessed whether
                      mice with concomitant deletion of the thyroid hormone
                      transporters Mct8 and the organic anion transporting
                      polypeptide (Oatp1c1) represent a valid preclinical model
                      organism for the AHDS.We generated and metabolically
                      characterized a new CRISPR/Cas9 generated Mct8/Oatp1c1
                      double-knockout (dKO) mouse line for the clinical features
                      observed in patients with AHDS.We show that Mct8/Oatp1c1 dKO
                      mice mimic key hallmarks of the AHDS, including decreased
                      life expectancy, central hypothyroidism, peripheral
                      hyperthyroidism, impaired neuronal myelination, impaired
                      motor abilities and enhanced peripheral thyroid hormone
                      action in the liver, adipose tissue, skeletal muscle and
                      bone.We conclude that Mct8/Oatp1c1 dKO mice are a valuable
                      model organism for the preclinical evaluation of drugs
                      designed to treat the AHDS.},
      keywords     = {Animals / Mice / Monocarboxylic Acid Transporters: genetics
                      / Symporters: genetics / Mental Retardation, X-Linked:
                      genetics / Thyroid Hormones / Allan-Herndon Dudley Syndrome
                      (Other) / Energy metabolism (Other) / Mct8 (Other) / Motor
                      coordination (Other) / Myelination (Other) / Oatp1c1 (Other)
                      / Thyroid hormone (Other)},
      cin          = {AG Wurst},
      ddc          = {610},
      cid          = {I:(DE-2719)1140001},
      pnm          = {352 - Disease Mechanisms (POF4-352)},
      pid          = {G:(DE-HGF)POF4-352},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:36270613},
      pmc          = {pmc:PMC9626936},
      doi          = {10.1016/j.molmet.2022.101616},
      url          = {https://pub.dzne.de/record/165526},
}