Monocarboxylat-Transporter 8

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Wirth EK et al. (2009) Neuronal 3',3,5-triiodothyronine (T3) uptake and behavioral phenotype of mice deficient in Mct8, the neuronal T3 transporter mutated in Allan-Herndon-Dudley syndrome.

Roberts LM et al. (2008) Expression of the thyroid hormone transporters monocarboxylate transporter-8 (SLC16A2) and organic ion transporter-14 (SLCO1C1) at the blood-brain barrier.

Jansen J et al. (2008) Genotype-phenotype relationship in patients with mutations in thyroid hormone transporter MCT8.

Trajkovic M et al. (2007) Abnormal thyroid hormone metabolism in mice lacking the monocarboxylate transporter 8.

Dumitrescu AM et al. (2006) Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (mct) 8-deficient mice.

Friesema EC et al. (2003) Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter.

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Frints SG et al. (2008) MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.

Maranduba CM et al. (2006) Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter.

Schwartz CE et al. (2005) Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.

Dumitrescu AM et al. (2004) A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.

Visser WE et al. (2010) Transcriptional profiling of fibroblasts from patients with mutations in MCT8 and comparative analysis with the human brain transcriptome.

Orphanet article

NCBI article

OMIM.ORG article