Low density lipoprotein receptor-related protein 5 (LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia

Summary 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....

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Veröffentlicht in:	Clinical endocrinology (Oxford) 2010-04, Vol.72 (4), p.481-488
Hauptverfasser:	Saarinen, Anne, Saukkonen, Tero, Kivelä, Tero, Lahtinen, Ulla, Laine, Christine, Somer, Mirja, Toiviainen-Salo, Sanna, Cole, William G., Lehesjoki, Anna-Elina, Mäkitie, Outi
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Aged Amino Acid Sequence Biological and medical sciences Bone Density - genetics Diseases of the osteoarticular system Endocrinopathies Female Femur Neck - metabolism Fundamental and applied biological sciences. Psychology Glioma - genetics Glucose Intolerance - genetics Humans Hypercholesterolemia - genetics LDL-Receptor Related Proteins - genetics Lipid Metabolism Low Density Lipoprotein Receptor-Related Protein-5 Lumbar Vertebrae - metabolism Male Medical sciences Middle Aged Molecular Sequence Data Mutation Osteoporosis - genetics Osteoporosis. Osteomalacia. Paget disease Syndrome Vertebrates: endocrinology
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