Article
Low density lipoprotein receptor-related protein 5 (LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia.
Clinical endocrinology - 1 Apr 2010
Saarinen Anne, Saukkonen Tero, Kivelä Tero, Lahtinen Ulla, Laine Christine, Somer Mirja, Toiviainen-Salo Sanna, Cole William G, Lehesjoki Anna-Elina, Mäkitie Outi
Abstract excerpt
OBJECTIVE: Mutations in the low-density lipoprotein receptor-related protein 5 gene (LRP5) underlie osteoporosis-pseudoglioma syndrome. Animal models implicate a role for LRP5 in lipid and glucose homeostasis. The objective was to evaluate metabolic consequences of LRP5 mutations in humans. DESIGN AND PATIENTS: Thirteen Finnish individuals with homozygous or heterozygous LRP5 mutations were assessed for bone...
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