Ontology highlight
ABSTRACT:
SUBMITTER: Vatine GD
PROVIDER: S-EPMC6659720 | biostudies-literature | 2017 Jun
REPOSITORIES: biostudies-literature
Vatine Gad D GD Al-Ahmad Abraham A Barriga Bianca K BK Svendsen Soshana S Salim Ariel A Garcia Leslie L Garcia Veronica J VJ Ho Ritchie R Yucer Nur N Qian Tongcheng T Lim Ryan G RG Wu Jie J Thompson Leslie M LM Spivia Weston R WR Chen Zhaohui Z Van Eyk Jennifer J Palecek Sean P SP Refetoff Samuel S Shusta Eric V EV Svendsen Clive N CN
Cell stem cell 20170516 6
Inactivating mutations in the thyroid hormone (TH) transporter Monocarboxylate transporter 8 (MCT8) cause severe psychomotor retardation in children. Animal models do not reflect the biology of the human disease. Using patient-specific induced pluripotent stem cells (iPSCs), we generated MCT8-deficient neural cells that showed normal TH-dependent neuronal properties and maturation. However, the blood-brain barrier (BBB) controls TH entry into the brain, and reduced TH availability to neural cell ...[more]