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About 95 results

ALLMedicine™ Allan-herndon-dudley Syndrome Center

Research & Reviews  37 results

Glycerol-Phenylbutyrate Treatment in Children With MCT Mutation (Allan-Herndon- Dudley Syndrome)
https://clinicaltrials.gov/ct2/show/NCT05019417

Aug 24th, 2021 - Introduction and rationale Thyroid hormone (TH) is crucial for the development and metabolic state of virtually all tissues. TH signaling is regulated at the tissue level by intracellular conversion of the prohormone thyroxine (T4) to receptor-act...

Design and Characterization of a Fluorescent Reporter Enabling Live-cell Monitoring of ...
https://doi.org/10.1055/a-1522-8535
Experimental and Clinical Endocrinology & Diabetes : Offi... Graffunder AS, Paisdzior S et. al.

Aug 6th, 2021 - The monocarboxylate transporter 8 (MCT8) is a specific thyroid hormone transporter and plays an essential role in fetal development. Inactivating mutations in the MCT8 encoding gene SLC16A2 (solute carrier family 16, member 2) lead to the Allan-He...

Brain Gene Expression in Systemic Hypothyroidism and Mouse Models of MCT8 Deficiency: T...
https://doi.org/10.1089/thy.2020.0649
Thyroid : Official Journal of the American Thyroid Associ... Morte B, Gil-Ibañez P et. al.

Dec 15th, 2020 - Background: The monocarboxylate transporter 8 (Mct8) protein is a primary thyroxine (T4) and triiodothyronine (T3) (thyroid hormone [TH]) transporter. Mutations of the MCT8-encoding, SLC16A2 gene alter thyroid function and TH metabolism and severe...

Spatiotemporal Changes of Cerebral Monocarboxylate Transporter 8 Expression.
https://doi.org/10.1089/thy.2019.0544
Thyroid : Official Journal of the American Thyroid Associ... Wilpert NM, Krueger M et. al.

Mar 8th, 2020 - Background: Mutations of monocarboxylate transporter 8 (MCT8), a thyroid hormone (TH)-specific transmembrane transporter, cause a severe neurodevelopmental disorder, the Allan-Herndon-Dudley syndrome. In MCT8 deficiency, TH is not able to reach th...

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Clinicaltrials.gov  1 results

Glycerol-Phenylbutyrate Treatment in Children With MCT Mutation (Allan-Herndon- Dudley Syndrome)
https://clinicaltrials.gov/ct2/show/NCT05019417

Aug 24th, 2021 - Introduction and rationale Thyroid hormone (TH) is crucial for the development and metabolic state of virtually all tissues. TH signaling is regulated at the tissue level by intracellular conversion of the prohormone thyroxine (T4) to receptor-act...

see more →