Home > Publications Database > Validation of Mct8/Oatp1c1 dKO mice as a model organism for the Allan-Herndon-Dudley Syndrome. > print

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005     20240918164038.0
024 7 _ |a 10.1016/j.molmet.2022.101616
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037 _ _ |a DZNE-2022-01672
041 _ _ |a English
082 _ _ |a 610
100 1 _ |a Maity-Kumar, Gandhari
|b 0
245 _ _ |a Validation of Mct8/Oatp1c1 dKO mice as a model organism for the Allan-Herndon-Dudley Syndrome.
260 _ _ |a Oxford [u.a.]
|c 2022
|b Elsevier
336 7 _ |a article
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520 _ _ |a 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.
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650 _ 7 |a Allan-Herndon Dudley Syndrome
|2 Other
650 _ 7 |a Energy metabolism
|2 Other
650 _ 7 |a Mct8
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650 _ 7 |a Motor coordination
|2 Other
650 _ 7 |a Myelination
|2 Other
650 _ 7 |a Oatp1c1
|2 Other
650 _ 7 |a Thyroid hormone
|2 Other
650 _ 2 |a Animals
|2 MeSH
650 _ 2 |a Mice
|2 MeSH
650 _ 2 |a Monocarboxylic Acid Transporters: genetics
|2 MeSH
650 _ 2 |a Symporters: genetics
|2 MeSH
650 _ 2 |a Mental Retardation, X-Linked: genetics
|2 MeSH
650 _ 2 |a Thyroid Hormones
|2 MeSH
700 1 _ |a Ständer, Lisa
|b 1
700 1 _ |a DeAngelis, Meri
|b 2
700 1 _ |a Lee, Sooyeon
|b 3
700 1 _ |a Molenaar, Anna
|b 4
700 1 _ |a Becker, Lore
|b 5
700 1 _ |a Garrett, Lillian
|b 6
700 1 _ |a Amerie, Oana V
|b 7
700 1 _ |a Hoelter, Sabine M
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700 1 _ |a Wurst, Wolfgang
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700 1 _ |a Fuchs, Helmut
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700 1 _ |a Feuchtinger, Annette
|b 11
700 1 _ |a Gailus-Durner, Valerie
|b 12
700 1 _ |a Garcia-Caceres, Cristina
|b 13
700 1 _ |a Othman, Ahmed E
|b 14
700 1 _ |a Brockmann, Caroline
|b 15
700 1 _ |a Schöffling, Vanessa I
|b 16
700 1 _ |a Beiser, Katja
|b 17
700 1 _ |a Krude, Heiko
|b 18
700 1 _ |a Mroz, Piotr A
|b 19
700 1 _ |a Hofmann, Susanna
|b 20
700 1 _ |a Tuckermann, Jan
|b 21
700 1 _ |a DiMarchi, Richard D
|b 22
700 1 _ |a Hrabe de Angelis, Martin
|b 23
700 1 _ |a Tschöp, Matthias H
|b 24
700 1 _ |a Pfluger, Paul T
|b 25
700 1 _ |a Müller, Timo D
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|e Corresponding author
773 _ _ |a 10.1016/j.molmet.2022.101616
|g Vol. 66, p. 101616 -
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|t Molecular metabolism
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|x 2212-8778
856 4 _ |u https://pub.dzne.de/record/165526/files/DZNE-2022-01672.pdf
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