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About 133 results

ALLMedicine™ Allan-Herndon-Dudley Syndrome Center

Research & Reviews  50 results

Role and Clinical Significance of Monocarboxylate Transporter 8 (MCT8) During Pregnancy.
https://doi.org/10.1007/s43032-022-01162-z
Reproductive Sciences (Thousand Oaks, Calif.); Thomas J, Sairoz et. al.

Jan 4th, 2023 - The review aims to summarize the available research focusing on the importance of monocarboxylate transporter (MCT8) in thyroid hormone trafficking across the placenta and fetal development. A systematic search was carried out in PubMed; studies a...

Triac Trial II in MCT8 Deficiency Patients
https://clinicaltrials.gov/ct2/show/NCT02396459

Oct 31st, 2022 - This therapeutic trial will be conducted in patients with MCT8 deficiency (also called Allan-Herndon-Dudley Syndrome (AHDS)), which is due to mutations in monocarboxylate transporter (MCT)8. MCT8 is a thyroid hormone transporter which is crucial f...

A CRISPR/Cas9-engineered avatar mouse model of monocarboxylate transporter 8 deficiency...
https://doi.org/10.1016/j.nbd.2022.105896
Neurobiology of Disease; Valcárcel-Hernández V, Guillén-Yunta M et. al.

Oct 16th, 2022 - Inactivating mutations in the specific thyroid hormone transporter monocarboxylate transporter 8 (MCT8) lead to an X-linked rare disease named MCT8 deficiency or Allan-Herndon-Dudley Syndrome. Patients exhibit a plethora of severe endocrine and ne...

Thyroid hormone regulators in human cerebral cortex development.
https://doi.org/10.1530/JOE-22-0189
The Journal of Endocrinology; Bernal J, Morte B et. al.

Oct 12th, 2022 - Brain development is critically dependent on the timely supply of thyroid hormones. The thyroid hormone transporters are central to the action of thyroid hormones in the brain, facilitating their passage through the blood-brain barrier. Mutations ...

Gene therapy targeting the blood-brain barrier improves neurological symptoms in a mode...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9762946
Brain : a Journal of Neurology; Sundaram SM, Arrulo Pereira A et. al.

Aug 6th, 2022 - A genetic deficiency of the solute carrier monocarboxylate transporter 8 (MCT8), termed Allan-Herndon-Dudley syndrome, is an important cause of X-linked intellectual and motor disability. MCT8 transports thyroid hormones across cell membranes. Whi...

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Clinicaltrials.gov  3 results

Triac Trial II in MCT8 Deficiency Patients
https://clinicaltrials.gov/ct2/show/NCT02396459

Oct 31st, 2022 - This therapeutic trial will be conducted in patients with MCT8 deficiency (also called Allan-Herndon-Dudley Syndrome (AHDS)), which is due to mutations in monocarboxylate transporter (MCT)8. MCT8 is a thyroid hormone transporter which is crucial f...

Rescue of Infants With MCT8 Deficiency
https://clinicaltrials.gov/ct2/show/NCT04143295

Mar 10th, 2022 - MCT8 deficiency (that is also known as Allan-Herndon-Dudley syndrome) is a rare X-linked inherited disorder of brain development that causes severe intellectual disability and problems with movement. This condition, which occurs almost exclusively...

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...

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