Searchable abstracts of presentations at key conferences in endocrinology

ea0015p145 | Diabetes, metabolism and cardiovascular | SFEBES2008

Tamm-Horsfall glycoprotein mutants, which cause familial juvenile hyperuricaemic nephropathy are retained in the endoplasmic reticulum, resulting in delayed maturation and trafficking to the plasma membrane

Williams Sian , Reed Anita , Antignac Corinne , Galvanovskis Juris , Thakker Rajesh

Background: Mutations in the UMOD gene, which encodes the Tamm-Horsfall Glycoprotein (THP), cause FJHN, an autosomal dominant disorder characterised by gout and renal failure. THP is a 640 amino acid glycosylphosphatidylinositol-anchored protein, containing three Epidermal Growth Factor (EGF)-like domains, a cysteine-rich region and a Zona Pelllucida (ZP) domain. THP is translated into the Endoplasmic Reticulum (ER) lumen, glycosylated in the Golgi apparatus, trafficked...

ea0015p156 | Diabetes, metabolism and cardiovascular | SFEBES2008

Familial juvenile hyperuricaemic nephropathy is due to mutations in Tamm-Horsfall protein and hepatocyte nuclear factor 1β: further evidence for genetic heterogeneity

Williams Sian , Reed Anita , Reilly Jennifer , Karet Fiona , Lhotta Karl , Strehlau Juergen , Turner Neil , Thakker Rajesh

Familial Juvenile Hyperuricaemic Nephropathy (FJHN) is an autosomal dominant disorder that is associated with gout and progressive renal failure. FJHN in 43 families has been reported to be caused by mutations in the UMOD gene, which encodes Uromodulin, also known as the Tamm-Horsfall Glycoprotein, and two families have been reported to have mutations in the transcription factor Hepatocyte Nuclear Factor 1β (HNF-1β), mutations of which usually cause maturity-o...

ea0015oc37 | Thyroid | SFEBES2008

Endocytosis involves a CLC-5 and KIF3B interaction: relevance to thyroid and renal tubular function

Reed Anita AC , Loh Nellie , Lippiat Jonathan , Partridge Chris , Galvanovskis Juris , Williams Sian , Jouret Francois , Wu Fiona , Courtoy Pierre , Nesbit M Andrew , Devuyst Olivier , Rorsman Patrik , Ashcroft Frances , Thakker Rajesh V

Endocrine cells utilise endocytosis to scavenge polypeptide hormones, and to generate signals from inactive precursors, such as release of thyroid hormones from thyroglobulin in thyrocytes, and activation of vitamin D after reabsorption of ultrafiltrated pro-vitamin D binding protein complex by renal proximal tubular cells (PTC). We have investigated the role of CLC-5, a chloride/proton antiporter expressed in apical endosomes and the apical plasma membrane of thyrocytes and P...