Transporter defects; a novel mechanism of thyroid hormone resistance with dramatic consequences
Mentale retardatie kan worden veroorzaakt door stoornissen in de stofwisseling van het schildklierhormoon TH. De onderzoekers hebben 945 patiënten met onverklaarde mentale retardatie onderzocht en diverse (onbekende) afwijkingen gevonden in genen die te maken hebben met de TH-stofwisseling. Bijvoorbeeld afwijkingen in schildklierhormoon transporterende eiwitten. De concentratie van het schildklierhormoon van deze patiënten werd dikwijls sterk beïnvloed door de anti-epilepsie medicijnen die zij gebruikten. In experimenten met menselijke cellen en in muizen zijn diverse eigenschappen van de betreffende enzymen en transportmoleculen bestudeerd.
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Titel: Evidence for a homodimeric structure of human monocarboxylate transporter 8.
Auteur: Visser WE, Philp NJ, van Dijk TB, Klootwijk W, Friesema EC, Jansen J, Beesley PW, Ianculescu AG, Visser TJ.
Magazine: Endocrinology
Auteur: Visser WE, Philp NJ, van Dijk TB, Klootwijk W, Friesema EC, Jansen J, Beesley PW, Ianculescu AG, Visser TJ.
Magazine: Endocrinology
Titel: Thyroid hormone transport by the human monocarboxylate transporter 8 and its rate-limiting role in intracellular metabolism.
Auteur: Friesema EC, Kuiper GG, Jansen J, Visser TJ, Kester MH.
Magazine: Molecular Endocrinology
Auteur: Friesema EC, Kuiper GG, Jansen J, Visser TJ, Kester MH.
Magazine: Molecular Endocrinology
Titel: Thyroid status in a large cohort of patients with mental retardation: the TOP-R (Thyroid Origin of Psychomotor Retardation) study.
Auteur: Visser WE, de Rijke YB, van Toor H, Visser TJ.
Magazine: Clinical Endocrinology
Auteur: Visser WE, de Rijke YB, van Toor H, Visser TJ.
Magazine: Clinical Endocrinology
Titel: Physiological thyroid hormone levels regulate numerous skeletal muscle transcripts.
Auteur: Visser WE, Heemstra KA, Swagemakers SM, Ozgür Z, Corssmit EP, Burggraaf J, van IJcken WF, van der Spek PJ, Smit JW, Visser TJ.
Magazine: Journal of Clinical Endocrinology & Metabolism
Auteur: Visser WE, Heemstra KA, Swagemakers SM, Ozgür Z, Corssmit EP, Burggraaf J, van IJcken WF, van der Spek PJ, Smit JW, Visser TJ.
Magazine: Journal of Clinical Endocrinology & Metabolism
Titel: . Identification, functional analysis, prevalence and treatment of monocarboxylate transporter 8 (MCT8) mutations in a cohort of adult patients with mental retardation.
Auteur: Visser WE, Vrijmoeth P, Visser FE, Arts WF, van Toor H, Visser TJ.
Magazine: Clinical Endocrinology
Auteur: Visser WE, Vrijmoeth P, Visser FE, Arts WF, van Toor H, Visser TJ.
Magazine: Clinical Endocrinology
Titel: Abnormal thyroid hormone metabolism in mice lacking the monocarboxylate transporter 8.
Auteur: Trajkovic M, Visser TJ, Mittag J, Horn S, Lukas J, Darras VM, Raivich G, Bauer K, Heuer H.
Magazine: Journal of Clinical Investigation
Auteur: Trajkovic M, Visser TJ, Mittag J, Horn S, Lukas J, Darras VM, Raivich G, Bauer K, Heuer H.
Magazine: Journal of Clinical Investigation
Titel: Pathophysiological importance of thyroid hormone transporters.
Auteur: Heuer H, Visser TJ.
Magazine: Endocrinology
Auteur: Heuer H, Visser TJ.
Magazine: Endocrinology
Titel: Study of the transport of thyroid hormone by transporters of the SLC10 family.
Auteur: Visser WE, Wong WS, van Mullem AA, Friesema EC, Geyer J, Visser TJ.
Magazine: Molecular and Cellular Endocrinology
Auteur: Visser WE, Wong WS, van Mullem AA, Friesema EC, Geyer J, Visser TJ.
Magazine: Molecular and Cellular Endocrinology
Titel: Functional analysis of monocarboxylate transporter 8 mutations identified in patients with X-linked psychomotor retardation and elevated serum triiodothyronine.
Auteur: Jansen J, Friesema EC, Kester MH, Milici C, Reeser M, Gruters A, Barrett TG, Mancilla EE, Svensson J, Wemeau JL, Busi da Silva Canalli MH, Lundgren J, McEntagart ME, Hopper N, Arts WF, Visser TJ.
Magazine: Journal of Clinical Endocrinology and Metabolism
Auteur: Jansen J, Friesema EC, Kester MH, Milici C, Reeser M, Gruters A, Barrett TG, Mancilla EE, Svensson J, Wemeau JL, Busi da Silva Canalli MH, Lundgren J, McEntagart ME, Hopper N, Arts WF, Visser TJ.
Magazine: Journal of Clinical Endocrinology and Metabolism
Titel: Consequences of monocarboxylate transporter 8 deficiency for renal transport and metabolism of thyroid hormones in mice.
Auteur: Trajkovic-Arsic M, Visser TJ, Darras VM, Friesema EC, Schlott B, Mittag J, Bauer K, Heuer H.
Magazine: Endocrinology
Auteur: Trajkovic-Arsic M, Visser TJ, Darras VM, Friesema EC, Schlott B, Mittag J, Bauer K, Heuer H.
Magazine: Endocrinology
Titel: Transcriptional profiling of fibroblasts from patients with mutations in MCT8 and comparative analysis with the human brain transcriptome.
Auteur: Visser WE, Swagemakers SM, Ozgur Z, Schot R, Verheijen FW, van IJcken WF, van der Spek PJ, Visser TJ.
Magazine: Human Molecular Genetics
Auteur: Visser WE, Swagemakers SM, Ozgur Z, Schot R, Verheijen FW, van IJcken WF, van der Spek PJ, Visser TJ.
Magazine: Human Molecular Genetics
Titel: Impact of monocarboxylate transporter-8 deficiency on the hypothalamus-pituitary-thyroid axis in mice.
Auteur: Trajkovic-Arsic M, Müller J, Darras VM, Groba C, Lee S, Weih D, Bauer K, Visser TJ, Heuer H.
Magazine: Endocrinology
Auteur: Trajkovic-Arsic M, Müller J, Darras VM, Groba C, Lee S, Weih D, Bauer K, Visser TJ, Heuer H.
Magazine: Endocrinology
Titel: The thyroid hormone transporters MCT8 and MCT10 transport the affinity-label N-bromoacetyl-[(125)I]T3 but are not modified by it.
Auteur: Visser WE, van Mullem AA, Jansen J, Visser TJ.
Magazine: Molecular and Cellular Endocrinology
Auteur: Visser WE, van Mullem AA, Jansen J, Visser TJ.
Magazine: Molecular and Cellular Endocrinology
Titel: Thyroid hormone transport and metabolism by OATP1C1 and consequences of genetic variation.
Auteur: Van der Deure WM, Hansen PS, Peeters RP, Kyvik KO, Friesema EC, Hegedüs L, Visser TJ.
Magazine: Endocrinology
Auteur: Van der Deure WM, Hansen PS, Peeters RP, Kyvik KO, Friesema EC, Hegedüs L, Visser TJ.
Magazine: Endocrinology
Titel: Effective cellular uptake and efflux of thyroid hormone by human monocarboxylate transporter 10 (MCT10).
Auteur: Friesema ECH, Jansen J, Jachtenberg JW, Visser WE, Kester MHA, Visser TJ.
Magazine: Molecular Endocrinology
Auteur: Friesema ECH, Jansen J, Jachtenberg JW, Visser WE, Kester MHA, Visser TJ.
Magazine: Molecular Endocrinology
Titel: Transport of thyroxine and 3,3',5-triiodothyronine in human umbilical vein endothelial cells.
Auteur: Visser WE, Friesema ECH, Visser TJ.
Magazine: Endocrinology
Auteur: Visser WE, Friesema ECH, Visser TJ.
Magazine: Endocrinology
Titel: Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations.
Auteur: Visser WE, Jansen J, Friesema ECH, Kester MHA, Mancilla E, Lundgren J, van der Knaap MS, Lunsing RJ, Brouwer OF, Visser TJ.
Magazine: Human Mutation
Auteur: Visser WE, Jansen J, Friesema ECH, Kester MHA, Mancilla E, Lundgren J, van der Knaap MS, Lunsing RJ, Brouwer OF, Visser TJ.
Magazine: Human Mutation
Titel: Transport of thyroid hormones is selectively inhibited by 3-iodothyronamine.
Auteur: Ianculescu AG, Friesema EC, Visser TJ, Giacomini KM, Scanlan TS.
Magazine: Molecular BioSystems
Auteur: Ianculescu AG, Friesema EC, Visser TJ, Giacomini KM, Scanlan TS.
Magazine: Molecular BioSystems
Titel: Impact of monocarboxylate transporter-8 deficiency on the hypothalamus-pituitary-thyroid axis in mice.
Auteur: Trajkovic-Arsic M, Müller J, Darras VM, Groba C, Lee S, Weih D, Bauer K, Visser TJ, Heuer H.
Magazine: Endocrinology
Auteur: Trajkovic-Arsic M, Müller J, Darras VM, Groba C, Lee S, Weih D, Bauer K, Visser TJ, Heuer H.
Magazine: Endocrinology
Titel: Minireview: Thyroid hormone transporters: the knowns and the unknowns.
Auteur: Visser WE, Friesema EC, Visser TJ.
Magazine: Molecular Endocrinology
Auteur: Visser WE, Friesema EC, Visser TJ.
Magazine: Molecular Endocrinology
Titel: Beneficial effects of propylthiouracil plus L-thyroxine treatment in a patient with a mutation in MCT8.
Auteur: Wémeau JL, Pigeyre M, Proust-Lemoine E, d'Herbomez M, Gottrand F, Jansen J, Visser TJ, M Ladsous M.
Magazine: Journal of Clinical Endocrinology and Metabolism
Auteur: Wémeau JL, Pigeyre M, Proust-Lemoine E, d'Herbomez M, Gottrand F, Jansen J, Visser TJ, M Ladsous M.
Magazine: Journal of Clinical Endocrinology and Metabolism
Titel: Finding the way into the brain without MCT8.
Auteur: Visser WE, Visser TJ.
Magazine: Journal of Clinical Endocrinology & Metabolism
Auteur: Visser WE, Visser TJ.
Magazine: Journal of Clinical Endocrinology & Metabolism
Titel: Genetics and phenomics of thyroid hormone transport by MCT8.
Auteur: Friesema EC, Visser WE, Visser TJ.
Magazine: Molecular and Cellular Endocrinology
Auteur: Friesema EC, Visser WE, Visser TJ.
Magazine: Molecular and Cellular Endocrinology
Titel: Genotype-phenotype relationship in patients with mutations in thyroid hormone transporter MCT8.
Auteur: Jansen J, Friesema EC, Kester MH, Schwartz CE, Visser TJ.
Magazine: Endocrinology
Auteur: Jansen J, Friesema EC, Kester MH, Schwartz CE, Visser TJ.
Magazine: Endocrinology
Titel: Thyroid hormone transport by monocarboxylate transporters.
Auteur: Visser WE, Friesema EC, Jansen J, Visser TJ.
Magazine: Best Practice and Research Clinical Endocrinology and Metabolism
Auteur: Visser WE, Friesema EC, Jansen J, Visser TJ.
Magazine: Best Practice and Research Clinical Endocrinology and Metabolism
Titel: Thyroid hormone transport in and out of cells.
Auteur: Visser WE, Friesema ECH, Jansen J, Visser TJ.
Magazine: Trends in Endocrinology and Metabolism
Auteur: Visser WE, Friesema ECH, Jansen J, Visser TJ.
Magazine: Trends in Endocrinology and Metabolism
Titel: Thyroid hormone and development.
Auteur: W.E. Visser.
Auteur: W.E. Visser.