Associated Papers
Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration.
Groeneweg S et al.
Nature Communications, 2025
40075072 (PubMed )
Supplement: 41467_2025_56628_MOESM1_ESM.pdf
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG22
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Thyroid hormone availability in the human fetal brain: novel entry pathways and role of radial glia.
López-Espíndola D et al.
Brain Structure & Function, 2019
Disorder of thyroid hormone transport into the tissues.
Groeneweg S et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2017
Mutations of the thyroid hormone transporter MCT8 cause prenatal brain damage and persistent hypomyelination.
López-Espíndola D et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
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