Signal peptide mutations in RANK prevent downstream activation of NF‐κB

Familial expansile osteolysis and related disorders are caused by heterozygous tandem duplication mutations in the signal peptide region of the gene encoding receptor activator of NF‐κB (RANK), a receptor critical for osteoclast formation and function. Previous studies have shown that overexpression...

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Veröffentlicht in:	Journal of bone and mineral research 2011-08, Vol.26 (8), p.1926-1938
Hauptverfasser:	Crockett, Julie C, Mellis, David J, Shennan, Kathleen IJ, Duthie, Angela, Greenhorn, John, Wilkinson, Debbie I, Ralston, Stuart H, Helfrich, Miep H, Rogers, Michael J
Format:	Artikel
Sprache:	eng
Schlagworte:	Base Sequence Biological and medical sciences Cell Line DNA Nucleotidyltransferases - metabolism EARLY‐ONSET PAGET'S DISEASE EXPANSILE SKELETAL HYPERPHOSPHATASIA FAMILIAL EXPANSILE OSTEOLYSIS Fundamental and applied biological sciences. Psychology Gene Expression Regulation HEK293 Cells Humans Molecular Sequence Data Molecular Weight Mutant Proteins - metabolism Mutant Proteins - ultrastructure Mutation - genetics NF-kappa B - metabolism NFκB Original OSTEOCLAST Osteoclasts - metabolism Osteoclasts - ultrastructure Protein Sorting Signals - genetics Protein Transport RANK Receptor Activator of Nuclear Factor-kappa B - genetics Receptor Activator of Nuclear Factor-kappa B - metabolism Receptor Activator of Nuclear Factor-kappa B - ultrastructure Reproducibility of Results Skeleton and joints Subcellular Fractions - metabolism Transfection Vertebrates: osteoarticular system, musculoskeletal system
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