Deletion of aspartate 182 in OPG causes juvenile Paget's disease by impairing both protein secretion and binding to RANKL

Mutations in the OPG gene cause idiopathic hyperphosphatasia. We characterized the effects of one such mutation and found that the mutant OPG is poorly secreted and has reduced biological activity compared with the wildtype protein. Therefore, correct structure and cellular processing of OPG is esse...

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Veröffentlicht in:	Journal of bone and mineral research 2006-03, Vol.21 (3), p.438-445
Hauptverfasser:	MIDDLETON-HARDIE, Catherine, QING ZHU, CUNDY, Harry, LIN, Jian-Ming, CALLON, Karen, PAK CHEUNG TONG, JIAKE XU, GREY, Andrew, CORNISH, Jill, NAOT, Dorit
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Aspartic Acid - chemistry Aspartic Acid - genetics Biological and medical sciences Carrier Proteins - metabolism Cells, Cultured Fundamental and applied biological sciences. Psychology Glycoproteins - chemistry Glycoproteins - genetics Glycoproteins - metabolism Glycosylation Humans Membrane Glycoproteins - metabolism Mice Osteitis Deformans - genetics Osteitis Deformans - metabolism Osteoprotegerin Protein Transport RANK Ligand Receptor Activator of Nuclear Factor-kappa B Receptors, Cytoplasmic and Nuclear - chemistry Receptors, Cytoplasmic and Nuclear - genetics Receptors, Cytoplasmic and Nuclear - metabolism Receptors, Tumor Necrosis Factor - chemistry Receptors, Tumor Necrosis Factor - genetics Receptors, Tumor Necrosis Factor - metabolism Sequence Deletion Skeleton and joints Vertebrates: osteoarticular system, musculoskeletal system
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