FriesemaEC, GruetersA, BiebermannH, KrudeH, von MoersA, ReeserM, BarrettTG, MancillaEE, SvenssonJ, KesterMH, KuiperGG, BalkassmiS, UitterlindenAG, KoehrleJ, RodienP, HalestrapAP, VisserTJ. 2004. Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. Lancet, 364:1435–1437.
2.
DumitrescuAM, LiaoXH, BestTB, BrockmannK, RefetoffS. 2004. A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am J Hum Genet, 74:168–175.
3.
VisserWE, FriesemaEC, VisserTJ. 2011. Minireview: thyroid hormone transporters: the knowns and the unknowns. Mol Endocrinol, 25:1–14.
DumitrescuAM, LiaoXH, WeissRE, MillenK, RefetoffS. 2006. Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (mct) 8-deficient mice. Endocrinology, 147:4036–4043.
6.
CeballosA, BelinchonMM, Sanchez-MendozaE, Grijota-MartinezC, DumitrescuAM, RefetoffS, MorteB, BernalJ. 2009. Importance of monocarboxylate transporter 8 for the blood–brain barrier-dependent availability of 3,5,3′-triiodo-L-thyronine. Endocrinology, 150:2491–2496.
7.
MayerlS, VisserTJ, DarrasVM, HornS, HeuerH. 2012. Impact of Oatp1c1 deficiency on thyroid hormone metabolism and action in the mouse brain. Endocrinology, 153:1528–1537.
WémeauJL, PigeyreM, Proust-LemoineE, d'HerbomezM, GottrandF, JansenJ, VisserTJ, LadsousM. 2008. Beneficial effects of propylthiouracil plus L-thyroxine treatment in a patient with a mutation in MCT8. J Clin Endocrinol Metab, 93:2084–2088.
10.
VisserWE, VrijmoethP, VisserFE, ArtsWF, van ToorH, VisserTJ. 2013. Identification, functional analysis, prevalence and treatment of monocarboxylate transporter 8 (MCT8) mutations in a cohort of adult patients with mental retardation. Clin Endocrinol (Oxf), 78:310–315.
11.
FerraraAM, LiaoXH, YeH, WeissRE, DumitrescuAM, RefetoffS. 2015. The thyroid hormone analog DITPA ameliorates metabolic parameters of male mice with Mct8 deficiency. Endocrinology, 156:3889–3894.
12.
VergeCF, KonradD, CohenM, Di CosmoC, DumitrescuAM, MarcinkowskiT, HameedS, HamiltonJ, WeissRE, RefetoffS. 2012. Diiodothyropropionic acid (DITPA) in the treatment of MCT8 deficiency. J Clin Endocrinol Metab, 97:4515–4523.
13.
KersseboomS, HornS, VisserWE, ChenJ, FriesemaEC, Vaurs-BarrièreC, PeetersRP, HeuerH, VisserTJ. 2014. In vitro and mouse studies supporting therapeutic utility of triiodothyroacetic acid in MCT8 deficiency. Mol Endocrinol, 28:1961–1970.
14.
Bárez-LópezS, ObregonMJ, Martínez-de-MenaR, BernalJ, Guadaño-FerrazA, MorteB. 2016. Effect of triiodothyroacetic acid treatment in Mct8 deficiency: a word of caution. Thyroid, 26:618–626.
15.
López-EspíndolaD, Morales-BastosC, Grijota-MartínezC, LiaoXH, LevD, SugoE, VergeCF, RefetoffS, BernalJ, Guadaño-FerrazA. 2014. Mutations of the thyroid hormone transporter MCT8 cause prenatal brain damage and persistent hypomyelination. J Clin Endocrinol Metab, 99:E2799–2804.
16.
WeissRE, DumitrescuA, RefetoffS. 2010. Approach to the patient with resistance to thyroid hormone and pregnancy. J Clin Endocrinol Metab, 95:3094–3102.
17.
NCT02060474. Available at https://clinicaltrials.gov/ (accessed March1, 2016).