{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T10:08:14Z","timestamp":1790762894621,"version":"4.1.0"},"reference-count":51,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2020,4,28]],"date-time":"2020-04-28T00:00:00Z","timestamp":1588032000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100010198","name":"Ministerio de Econom\\u00EDa, Industria y Competitividad, Gobierno de Espa\\u00F1a","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100010198","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100011033","name":"Agencia Estatal de Investigaci\\u00F3n","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100011033","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000268","name":"Biotechnology and Biological Sciences Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000268","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurosci."],"DOI":"10.3389\/fnins.2020.00380","type":"journal-article","created":{"date-parts":[[2020,4,28]],"date-time":"2020-04-28T04:35:33Z","timestamp":1588048533000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":47,"title":["MCT8 Deficiency: The Road to Therapies for a Rare Disease"],"prefix":"10.3389","volume":"14","author":[{"given":"Carmen","family":"Grijota-Mart\u00ednez","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soledad","family":"B\u00e1rez-L\u00f3pez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"G\u00f3mez-Andr\u00e9s","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Guada\u00f1o-Ferraz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2020,4,28]]},"reference":[{"key":"B1","first-page":"325","article-title":"Some examples of the inheritance of mental deficiency: apparently sex-linked idiocy and microcephaly.","volume":"48","author":"Allan","year":"1944","journal-title":"Am. J. Ment. Defic."},{"key":"B2","doi-asserted-by":"publisher","first-page":"1669","DOI":"10.1089\/thy.2019.0068","article-title":"Adult mice lacking Mct8 and Dio2 proteins present alterations in peripheral thyroid hormone levels and severe brain and motor skill impairments.","volume":"29","author":"B\u00e1rez-L\u00f3pez","year":"","journal-title":"Thyroid"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0226017","article-title":"Intracerebroventricular administration of the thyroid hormone analog TRIAC increases its brain content in the absence of MCT8.","volume":"14","author":"B\u00e1rez-L\u00f3pez","year":"","journal-title":"PLoS One"},{"key":"B4","doi-asserted-by":"publisher","first-page":"1211","DOI":"10.1089\/thy.2018.0008","article-title":"Sobetirome and its amide prodrug Sob-AM2 exert thyromimetic actions in Mct8-deficient brain.","volume":"28","author":"B\u00e1rez-L\u00f3pez","year":"2018","journal-title":"Thyroid"},{"key":"B5","doi-asserted-by":"publisher","first-page":"618","DOI":"10.1089\/thy.2015.0388","article-title":"Effect of triiodothyroacetic acid treatment in Mct8 deficiency: a word of caution.","volume":"26","author":"B\u00e1rez-L\u00f3pez","year":"2016","journal-title":"Thyroid"},{"key":"B6","doi-asserted-by":"publisher","first-page":"359","DOI":"10.1530\/eje.1.01980","article-title":"Extended clinical phenotype, endocrine investigations and functional studies of a loss-of-function mutation A150V in the thyroid hormone specific transporter MCT8.","volume":"153","author":"Biebermann","year":"2005","journal-title":"Eur. J. Endocrinol."},{"key":"B7","doi-asserted-by":"publisher","first-page":"4720","DOI":"10.1210\/en.2015-1393","article-title":"Efficient activation of pathogenic DeltaPhe501 mutation in monocarboxylate transporter 8 by chemical and pharmacological chaperones.","volume":"156","author":"Braun","year":"2015","journal-title":"Endocrinology"},{"key":"B8","doi-asserted-by":"publisher","first-page":"678","DOI":"10.1210\/en.2016-1530","article-title":"The chemical chaperone phenylbutyrate rescues MCT8 mutations associated with milder phenotypes in patients with allan-herndon-dudley syndrome.","volume":"158","author":"Braun","year":"2017","journal-title":"Endocrinology"},{"key":"B9","doi-asserted-by":"publisher","first-page":"2491","DOI":"10.1210\/en.2008-1616","article-title":"Importance of monocarboxylate transporter 8 for the blood-brain barrier-dependent availability of 3,5,3\u2019-triiodo-L-thyronine.","volume":"150","author":"Ceballos","year":"2009","journal-title":"Endocrinology"},{"key":"B10","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1016\/s1074-5521(98)90168-5","article-title":"A high-affinity subtype-selective agonist ligand for the thyroid hormone receptor.","volume":"5","author":"Chiellini","year":"1998","journal-title":"Chem. Biol."},{"key":"B11","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1038\/nrendo.2015.205","article-title":"Nongenomic actions of thyroid hormone.","volume":"12","author":"Davis","year":"2016","journal-title":"Nat. Rev. Endocrinol."},{"key":"B12","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1530\/joe-16-0323","article-title":"MCT8 deficiency in Purkinje cells disrupts embryonic chicken cerebellar development.","volume":"232","author":"Delbaere","year":"2017","journal-title":"J. Endocrinol."},{"key":"B13","doi-asserted-by":"publisher","first-page":"4450","DOI":"10.1210\/en.2009-0209","article-title":"A thyroid hormone analog with reduced dependence on the monocarboxylate transporter 8 for tissue transport.","volume":"150","author":"Di Cosmo","year":"2009","journal-title":"Endocrinology"},{"key":"B14","doi-asserted-by":"publisher","first-page":"168","DOI":"10.1086\/380999","article-title":"A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.","volume":"74","author":"Dumitrescu","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"B15","doi-asserted-by":"publisher","first-page":"4036","DOI":"10.1210\/en.2006-0390","article-title":"Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (mct) 8-deficient mice.","volume":"147","author":"Dumitrescu","year":"2006","journal-title":"Endocrinology"},{"key":"B16","doi-asserted-by":"publisher","first-page":"4088","DOI":"10.1210\/en.2014-1085","article-title":"Placenta passage of the thyroid hormone analog DITPA to male wild-type and Mct8-deficient mice.","volume":"155","author":"Ferrara","year":"2014","journal-title":"Endocrinology"},{"key":"B17","doi-asserted-by":"publisher","first-page":"3889","DOI":"10.1210\/en.2015-1234","article-title":"The thyroid hormone analog DITPA ameliorates metabolic parameters of male mice with Mct8 deficiency.","volume":"156","author":"Ferrara","year":"2015","journal-title":"Endocrinology"},{"key":"B18","doi-asserted-by":"publisher","first-page":"40128","DOI":"10.1074\/jbc.m300909200","article-title":"Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter.","volume":"278","author":"Friesema","year":"2003","journal-title":"J. Biol. Chem."},{"key":"B19","doi-asserted-by":"publisher","first-page":"1435","DOI":"10.1016\/s0140-6736(04)17226-7","article-title":"Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation.","volume":"364","author":"Friesema","year":"2004","journal-title":"Lancet"},{"key":"B20","doi-asserted-by":"publisher","first-page":"695","DOI":"10.1016\/S2213-8587(19)30155-X","article-title":"Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial.","volume":"7","author":"Groeneweg","year":"2019","journal-title":"Lancet Diabetes Endocrinol."},{"key":"B21","doi-asserted-by":"publisher","first-page":"1290","DOI":"10.1210\/en.2017-00846","article-title":"Effects of chemical chaperones on thyroid hormone transport by MCT8 mutants in patient-derived fibroblasts.","volume":"159","author":"Groeneweg","year":"2018","journal-title":"Endocrinology"},{"key":"B22","doi-asserted-by":"publisher","first-page":"1328","DOI":"10.1210\/en.2016-1842","article-title":"A thyroid hormone-based strategy for correcting the biochemical abnormality in X-linked adrenoleukodystrophy.","volume":"158","author":"Hartley","year":"2017","journal-title":"Endocrinology"},{"key":"B23","doi-asserted-by":"publisher","first-page":"451","DOI":"10.1210\/edrv.22.4.0435","article-title":"Plasma membrane transport of thyroid hormones and its role in thyroid hormone metabolism and bioavailability.","volume":"22","author":"Hennemann","year":"2001","journal-title":"Endocr. Rev."},{"key":"B24","doi-asserted-by":"publisher","first-page":"968","DOI":"10.1210\/en.2012-1628","article-title":"Tetrac can replace thyroid hormone during brain development in mouse mutants deficient in the thyroid hormone transporter mct8.","volume":"154","author":"Horn","year":"2013","journal-title":"Endocrinology"},{"key":"B25","doi-asserted-by":"publisher","first-page":"1311","DOI":"10.1089\/thy.2016.0060","article-title":"Adeno associated virus 9-based gene therapy delivers a functional monocarboxylate transporter 8, improving thyroid hormone availability to the brain of Mct8-deficient mice.","volume":"26","author":"Iwayama","year":"2016","journal-title":"Thyroid"},{"key":"B26","doi-asserted-by":"publisher","first-page":"1961","DOI":"10.1210\/me.2014-1135","article-title":"In vitro and mouse studies support therapeutic utility of triiodothyroacetic acid in MCT8 deficiency.","volume":"28","author":"Kersseboom","year":"2015","journal-title":"Mol. Endocrinol."},{"key":"B27","doi-asserted-by":"publisher","first-page":"2103","DOI":"10.1007\/s00429-019-01896-8","article-title":"Thyroid hormones availability in the human fetal brain: novel entry pathways and role of radial glia.","volume":"224","author":"L\u00f3pez-Esp\u00edndola","year":"2019","journal-title":"Brain Struct. Funct."},{"key":"B28","doi-asserted-by":"publisher","first-page":"E2799","DOI":"10.1210\/jc.2014-2162","article-title":"Mutations of the thyroid hormone transporter MCT8 cause prenatal brain damage and persistent hypomyelination.","volume":"99","author":"L\u00f3pez-Esp\u00edndola","year":"2014","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"B29","doi-asserted-by":"publisher","first-page":"1565","DOI":"10.1007\/s11011-019-00464-7","article-title":"Novel mutations in SLC16A2 associated with a less severe phenotype of MCT8 deficiency.","volume":"34","author":"Masnada","year":"2019","journal-title":"Metab Brain Dis"},{"key":"B30","doi-asserted-by":"publisher","first-page":"1987","DOI":"10.1172\/jci70324","article-title":"Transporters MCT8 and OATP1C1 maintain murine brain thyroid hormone homeostasis.","volume":"124","author":"Mayerl","year":"2014","journal-title":"J. Clin. Invest."},{"key":"B31","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1016\/s0303-7207(00)00266-5","article-title":"Triac regulation of transcription is T(3) receptor isoform- and response element-specific.","volume":"165","author":"Messier","year":"2000","journal-title":"Mol. Cell. Endocrinol."},{"key":"B32","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1089\/thy.2007.0248","article-title":"Metabolic effects of thyroid hormone derivatives.","volume":"18","author":"Moreno","year":"2008","journal-title":"Thyroid"},{"key":"B33","doi-asserted-by":"publisher","first-page":"2694","DOI":"10.1210\/en.2017-00108","article-title":"Functional characterization of Xenopus thyroid hormone transporters mct8 and oatp1c1.","volume":"158","author":"Mughal","year":"2017","journal-title":"Endocrinology"},{"key":"B34","doi-asserted-by":"publisher","first-page":"785","DOI":"10.1007\/s00431-007-0589-6","article-title":"Clinical phenotype and endocrinological investigations in a patient with a mutation in the MCT8 thyroid hormone transporter.","volume":"167","author":"Namba","year":"2008","journal-title":"Eur. J. Pediatr."},{"key":"B35","doi-asserted-by":"publisher","first-page":"443","DOI":"10.1002\/(sici)1097-0223(199605)16:5<443::aid-pd892>3.0.co;2-2","article-title":"Prenatal treatment of fetal hypothyroidism: is there more than one option?","volume":"16","author":"Nicolini","year":"1996","journal-title":"Prenat. Diagn."},{"key":"B36","doi-asserted-by":"publisher","first-page":"e199","DOI":"10.1542\/peds.2007-1247","article-title":"A novel monocarboxylate transporter 8 gene mutation as a cause of severe neonatal hypotonia and developmental delay.","volume":"121","author":"Papadimitriou","year":"2008","journal-title":"Pediatrics"},{"key":"B37","first-page":"163","article-title":"Cardiac effects of 3,5-diiodothyropropionic acid, a thyroid hormone analog with inotropic selectivity.","volume":"263","author":"Pennock","year":"1992","journal-title":"J. Pharmacol. Exp. Ther."},{"key":"B38","doi-asserted-by":"publisher","first-page":"1439","DOI":"10.1111\/dmcn.14332","article-title":"Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations.","volume":"61","author":"Remerand","year":"2019","journal-title":"Dev. Med. Child Neurol."},{"key":"B39","doi-asserted-by":"publisher","first-page":"6251","DOI":"10.1210\/en.2008-0378","article-title":"Expression of the thyroid hormone transporters monocarboxylate transporter-8 (SLC16A2) and organic ion transporter-14 (SLCO1C1) at the blood-brain barrier.","volume":"149","author":"Roberts","year":"2008","journal-title":"Endocrinology"},{"key":"B40","doi-asserted-by":"publisher","first-page":"2033","DOI":"10.1210\/jc.80.7.2033","article-title":"Triiodothyroacetic acid has unique potential for therapy of resistance to thyroid hormone.","volume":"80","author":"Takeda","year":"1995","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"B41","doi-asserted-by":"publisher","first-page":"627","DOI":"10.1172\/jci28253","article-title":"Abnormal thyroid hormone metabolism in mice lacking the monocarboxylate transporter 8.","volume":"117","author":"Trajkovic","year":"2007","journal-title":"J. Clin. Invest."},{"key":"B42","doi-asserted-by":"crossref","first-page":"831.e5","DOI":"10.1016\/j.stem.2017.04.002","article-title":"Modeling psychomotor retardation using iPSCs from MCT8-deficient patients indicates a prominent role for the blood-brain barrier.","volume":"20","author":"Vatine","year":"2017","journal-title":"Cell Stem Cell"},{"key":"B43","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1074\/jbc.M112.413831","article-title":"Zebrafish as a model for monocarboxyl transporter 8-deficiency.","volume":"288","author":"Vatine","year":"2013","journal-title":"J. Biol. Chem."},{"key":"B44","doi-asserted-by":"publisher","first-page":"4515","DOI":"10.1210\/jc.2012-2556","article-title":"Diiodothyropropionic acid (DITPA) in the treatment of MCT8 deficiency.","volume":"97","author":"Verge","year":"2012","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"B45","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1111\/cen.12023","article-title":"Identification, functional analysis, prevalence and treatment of monocarboxylate transporter 8 (MCT8) mutations in a cohort of adult patients with mental retardation.","volume":"78","author":"Visser","year":"2013","journal-title":"Clin. Endocrinol."},{"key":"B46","doi-asserted-by":"publisher","first-page":"2084","DOI":"10.1210\/jc.2007-2719","article-title":"Beneficial effects of propylthiouracil plus L-thyroxine treatment in a patient with a mutation in MCT8.","volume":"93","author":"Wemeau","year":"2008","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"B47","doi-asserted-by":"publisher","DOI":"10.1089\/thy.2019.0544","article-title":"Spatiotemporal changes of cerebral monocarboxylate transporter 8 expression.","author":"Wilpert","year":"2020","journal-title":"Thyroid"},{"key":"B48","doi-asserted-by":"publisher","first-page":"9439","DOI":"10.1523\/JNEUROSCI.6055-08.2009","article-title":"Neuronal 3\u2019,3,5-triiodothyronine (T3) uptake and behavioral phenotype of mice deficient in Mct8, the neuronal T3 transporter mutated in Allan-Herndon-Dudley syndrome.","volume":"29","author":"Wirth","year":"2009","journal-title":"J. Neurosci."},{"key":"B49","doi-asserted-by":"publisher","first-page":"1339","DOI":"10.1242\/dmm.027227","article-title":"Pharmacological treatment and BBB-targeted genetic therapy for MCT8-dependent hypomyelination in zebrafish.","volume":"9","author":"Zada","year":"2016","journal-title":"Dis. Model. Mech."},{"key":"B50","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1004615","article-title":"Altered behavioral performance and live imaging of circuit-specific neural deficiencies in a zebrafish model for psychomotor retardation.","volume":"10","author":"Zada","year":"2014","journal-title":"PLoS Genet."},{"key":"B51","doi-asserted-by":"publisher","first-page":"823","DOI":"10.1530\/EJE-11-0358","article-title":"A child with a deletion in the monocarboxylate transporter 8 gene: 7-year follow-up and effects of thyroid hormone treatment.","volume":"165","author":"Zung","year":"2011","journal-title":"Eur. J. Endocrinol."}],"container-title":["Frontiers in Neuroscience"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fnins.2020.00380\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,4,28]],"date-time":"2020-04-28T04:35:36Z","timestamp":1588048536000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fnins.2020.00380\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,4,28]]},"references-count":51,"alternative-id":["10.3389\/fnins.2020.00380"],"URL":"https:\/\/doi.org\/10.3389\/fnins.2020.00380","relation":{},"ISSN":["1662-453X"],"issn-type":[{"value":"1662-453X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,4,28]]},"article-number":"380"}}