TY  - JOUR
AU  - Valcárcel Hernández, Víctor
AU  - Guillén Yunta, Marina
AU  - Bueno Arribas, Miranda
AU  - Montero Pedrazuela, Ana
AU  - Grijota Martínez, María Carmen
AU  - Markossian, Suzy
AU  - García Aldea, Ángel
AU  - Flamant, Frédéric
AU  - Bárez López, Soledad
AU  - Guadaño Ferraz, Ana
PY  - 2022
DO  - 10.1016/j.nbd.2022.105896
SN  - 0969-9961
UR  - https://hdl.handle.net/20.500.14352/92141
T2  - Neurobiology of Disease
AB  - 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...
LA  - eng
M2  - 1
PB  - Elsevier
KW  - Thyroid hormones
KW  - Thyroid hormone transport
KW  - MCT8
KW  - Murine model
KW  - GABAergic system
KW  - CRISPR/Cas9
TI  - A CRISPR/Cas9-engineered avatar mouse model of monocarboxylate transporter 8 deficiency displays distinct neurological alterations
TY  - journal article
VL  - 174
ER  -