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000165526 0247_ $$2doi$$a10.1016/j.molmet.2022.101616
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000165526 1001_ $$aMaity-Kumar, Gandhari$$b0
000165526 245__ $$aValidation of Mct8/Oatp1c1 dKO mice as a model organism for the Allan-Herndon-Dudley Syndrome.
000165526 260__ $$aOxford [u.a.]$$bElsevier$$c2022
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000165526 520__ $$aThe Allan-Herndon-Dudley syndrome (AHDS) is a severe disease caused by dysfunctional central thyroid hormone transport due to functional loss of the monocarboxylate transporter 8 (MCT8). In this study, we assessed whether mice with concomitant deletion of the thyroid hormone transporters Mct8 and the organic anion transporting polypeptide (Oatp1c1) represent a valid preclinical model organism for the AHDS.We generated and metabolically characterized a new CRISPR/Cas9 generated Mct8/Oatp1c1 double-knockout (dKO) mouse line for the clinical features observed in patients with AHDS.We show that Mct8/Oatp1c1 dKO mice mimic key hallmarks of the AHDS, including decreased life expectancy, central hypothyroidism, peripheral hyperthyroidism, impaired neuronal myelination, impaired motor abilities and enhanced peripheral thyroid hormone action in the liver, adipose tissue, skeletal muscle and bone.We conclude that Mct8/Oatp1c1 dKO mice are a valuable model organism for the preclinical evaluation of drugs designed to treat the AHDS.
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000165526 650_7 $$2Other$$aAllan-Herndon Dudley Syndrome
000165526 650_7 $$2Other$$aEnergy metabolism
000165526 650_7 $$2Other$$aMct8
000165526 650_7 $$2Other$$aMotor coordination
000165526 650_7 $$2Other$$aMyelination
000165526 650_7 $$2Other$$aOatp1c1
000165526 650_7 $$2Other$$aThyroid hormone
000165526 650_2 $$2MeSH$$aAnimals
000165526 650_2 $$2MeSH$$aMice
000165526 650_2 $$2MeSH$$aMonocarboxylic Acid Transporters: genetics
000165526 650_2 $$2MeSH$$aSymporters: genetics
000165526 650_2 $$2MeSH$$aMental Retardation, X-Linked: genetics
000165526 650_2 $$2MeSH$$aThyroid Hormones
000165526 7001_ $$aStänder, Lisa$$b1
000165526 7001_ $$aDeAngelis, Meri$$b2
000165526 7001_ $$aLee, Sooyeon$$b3
000165526 7001_ $$aMolenaar, Anna$$b4
000165526 7001_ $$aBecker, Lore$$b5
000165526 7001_ $$aGarrett, Lillian$$b6
000165526 7001_ $$aAmerie, Oana V$$b7
000165526 7001_ $$aHoelter, Sabine M$$b8
000165526 7001_ $$0P:(DE-2719)2000028$$aWurst, Wolfgang$$b9$$udzne
000165526 7001_ $$aFuchs, Helmut$$b10
000165526 7001_ $$aFeuchtinger, Annette$$b11
000165526 7001_ $$aGailus-Durner, Valerie$$b12
000165526 7001_ $$aGarcia-Caceres, Cristina$$b13
000165526 7001_ $$aOthman, Ahmed E$$b14
000165526 7001_ $$aBrockmann, Caroline$$b15
000165526 7001_ $$aSchöffling, Vanessa I$$b16
000165526 7001_ $$aBeiser, Katja$$b17
000165526 7001_ $$aKrude, Heiko$$b18
000165526 7001_ $$aMroz, Piotr A$$b19
000165526 7001_ $$aHofmann, Susanna$$b20
000165526 7001_ $$aTuckermann, Jan$$b21
000165526 7001_ $$aDiMarchi, Richard D$$b22
000165526 7001_ $$aHrabe de Angelis, Martin$$b23
000165526 7001_ $$aTschöp, Matthias H$$b24
000165526 7001_ $$aPfluger, Paul T$$b25
000165526 7001_ $$0P:(DE-HGF)0$$aMüller, Timo D$$b26$$eCorresponding author
000165526 773__ $$0PERI:(DE-600)2708735-9$$a10.1016/j.molmet.2022.101616$$gVol. 66, p. 101616 -$$p101616$$tMolecular metabolism$$v66$$x2212-8778$$y2022
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