Endocrine Abstracts

Mutations in the gene for 3′-phospho-adenosine-5′-phosphosulfate synthase 2 (PAPSS2) are linked to bone and cartilage mal-formation. More recently, we could identify PAPSS2-mutations as mono-genetic cause for androgen excess in women due to apparent SULT2A1 deficiency, the enzyme responsible for sulfation of the testosterone precursor DHEA that relies on PAPS provision by PAPS synthases. The only human orthologue, PAPSS1, is expressed in the affected tissu...

The ability of the thyroid to accumulate iodide via the sodium-iodide symporter (NIS) can be utilised to successfully treat the majority of thyroid cancers with radioiodide. However, approximately 25% of thyroid cancers lose this functional NIS activity and become unresponsive to radioiodide therapy, resulting in a poorer prognosis. Our knowledge of NIS regulation is limited, but as dimerisation of NIS has been proposed, we sought to investigate NIS dimerisation and its impact...

The ability of the thyroid to accumulate iodide via the sodium-iodide symporter (NIS) can be utilised to successfully treat the majority of thyroid cancers with radioiodide. However, approximately 25% of thyroid cancers lose this functional NIS activity and become unresponsive to radioiodide therapy, resulting in a poorer prognosis. Our knowledge of NIS regulation is limited, but as dimerisation of NIS has been proposed, we sought to investigate NIS dimerisation and its impact...