Zobrazeno 1 - 10
of 576
pro vyhledávání: '"Mct8"'
Publikováno v:
European Thyroid Journal, Vol 13, Iss 6, Pp 1-9 (2024)
Patients with an inactive thyroid hormone (TH) transporter MCT8 (Allan–Herndon–Dudley Syndrome, AHDS) display severe neurological impairments and motor disabilities, indicating an indispensable function of MCT8 in facilitating TH access to the hu
Externí odkaz:
https://doaj.org/article/d7f6a6ea3dda416a8b666029fb3f2f1a
Autor:
Marina Guillén-Yunta, Ángel García-Aldea, Víctor Valcárcel-Hernández, Ainara Sanz-Bógalo, Emma Muñoz-Moreno, Maria Gisele Matheus, Carmen Grijota-Martínez, Ana Montero-Pedrazuela, Ana Guadaño-Ferraz, Soledad Bárez-López
Publikováno v:
Neurobiology of Disease, Vol 200, Iss , Pp 106621- (2024)
Allan-Herndon-Dudley syndrome (AHDS) is a rare X-linked disorder that causes severe neurological damage, for which there is no effective treatment. AHDS is due to inactivating mutations in the thyroid hormone transporter MCT8 that impair the entry of
Externí odkaz:
https://doaj.org/article/00765c84013245a289fc2b187923a54b
Autor:
Andrew J. Bauer, Bethany Auble, Amy L. Clark, Tina Y. Hu, Amber Isaza, Kyle P. McNerney, Daniel L. Metzger, Lindsey Nicol, Samuel R. Pierce, Richard Sidlow
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
Monocarboxylate transporter 8 (MCT8) deficiency is a rare, X-linked disorder arising from mutations in the SLC16A2 gene and resulting from dysfunctional thyroid hormone transport. This disorder is characterized by profound neurodevelopmental delay an
Externí odkaz:
https://doaj.org/article/9aa8cd96d30c4def9908a9d3f71c8e2b
Autor:
Ángel García-Aldea, Marina Guillén-Yunta, Víctor Valcárcel-Hernández, Ana Montero-Pedrazuela, Ana Guadaño-Ferraz, Soledad Bárez-López
Publikováno v:
European Thyroid Journal, Vol 13, Iss 2, Pp 1-9 (2024)
Thyroid hormones play an important role during the development and functioning of the different sensory systems. In order to exert their actions, thyroid hormones need to access their target cells through transmembrane transporter proteins, among whi
Externí odkaz:
https://doaj.org/article/930b764a158e4966b968db305a3dbaad
Autor:
Yağmur Ünsal, Gamze Hayran
Publikováno v:
JCRPE, Vol 16, Iss 1, Pp 116-122 (2024)
Monocarboxylate transporter 8 (MCT8) deficiency is a rare genetic disorder characterized by peripheral thyrotoxicosis and severe cognitive and motor disability due to cerebral hypothyroidism. 3,3',5-triiodothyroacetic acid (Triac) was shown to improv
Externí odkaz:
https://doaj.org/article/fd71fab89a524055b58d8ca71b01f049
Publikováno v:
JCRPE, Vol 16, Iss 1, Pp 1-3 (2024)
Externí odkaz:
https://doaj.org/article/b3b5f59f17d647eb87afdd3228cb8486
Autor:
Marina Guillén-Yunta, Víctor Valcárcel-Hernández, Ángel García-Aldea, Guadalupe Soria, José Manuel García-Verdugo, Ana Montero-Pedrazuela, Ana Guadaño-Ferraz
Publikováno v:
Fluids and Barriers of the CNS, Vol 20, Iss 1, Pp 1-20 (2023)
Abstract Background The monocarboxylate transporter 8 (MCT8) plays a vital role in maintaining brain thyroid hormone homeostasis. This transmembrane transporter is expressed at the brain barriers, as the blood–brain barrier (BBB), and in neural cel
Externí odkaz:
https://doaj.org/article/0eeb6dae8d194ee1ad7e04172c78f784
Publikováno v:
Neuropsychiatric Disease and Treatment, Vol Volume 19, Pp 2195-2216 (2023)
Nina-Maria Wilpert,1,2 Davide Tonduti,3 Ylenia Vaia,3 Heiko Krude,4 Catherine Sarret,5 Markus Schuelke1,2,6 1Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute
Externí odkaz:
https://doaj.org/article/6649c0f03e284adbb621aac95998025c
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