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  • Amling M, Priemel M, Holzmann T, Chapin K, Rueger JM, Baron R, Demay MB (1999) Rescue of the skeletal phenotype of vitamin D receptor-ablated mice in the setting of normal mineral ion homeostasis: Formal histomorphometric and biomechanical analyses. Endocrinology 140: 4982-4987
  • Bao M, Booth JL, Elmendorf BJ, Canfield WM (1996) Bovine UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase. I. Purification and subunit structure. J Biol Chem 271: 31437-31445
  • Bargal R, Zeigler M, Abu-Libdeh B, Zuri V, Mandel H, Ben Neriah Z, Stewart F, Elcioglu N, Hindi T, Le Merrer M, et al (2006) When mucolipidosis III meets mucolipidosis II: GNPTA gene mutations in 24 patients. Mol Genet Metab 88: 359-363
  • Baron R, Neff L, Brown W, Courtoy PJ, Louvard D, Farquhar MG (1988) Polarized secretion of lysosomal enzymes: Co-distribution of cation-independent mannose-6-phosphate receptors and lysosomal enzymes along the osteoclast exocytic pathway. J Cell Biol 106: 1863-1872
  • Boonen M, van Meel E, Oorschot V, Klumperman J, Kornfeld S (2011) Vacuolization of mucolipidosis type II mouse exocrine gland cells represents accumulation of autolysosomes. Mol Biol Cell 22: 1135-1147
  • Boyle WJ, Simonet WS, Lacey DL (2003) Osteoclast differentiation and activation. Nature 423: 337-342
  • Braulke T, Bonifacino JS (2009) Sorting of lysosomal proteins. Biochim Biophys Acta 1793: 605-614
  • Braulke T, Gartung C, Hasilik A, von Figura K (1987) Is movement of mannose 6-phosphate-specific receptor triggered by binding of lysosomal enzymes? J Cell Biol 104: 1735-1742
  • Braulke T, Raas-Rothschild A, Kornfeld S, (2013) I-cell disease and pseudo-Hurler polydystrophy: Disorders of lysosomal enzyme phosphorylation and localization. In The Online Metabolic and Molecular Bases of Inherited Disease, Valle D, Beaudet A, Vogelstein B, Kinzler K, Antonarakis S, Ballabio A, Scriver C, Sly W, Childs B, Bunz F, et al (eds). New York City, NY: McGraw Hill
  • Cathey S. S, Kudo M, Tiede S, Raas-Rothschild A, Braulke T, Beck M, Taylor HA, Canfield WM, Leroy JG, Neufeld EF, et al (2008) Molecular order in mucolipidosis II and III nomenclature. Am J Med Genet A 146A: 512-513
  • Cathey SS, Leroy JG, Wood T, Eaves K, Simensen RJ, Kudo M, Stevenson RE, Friez MJ (2010) Phenotype and genotype in mucolipidoses II and III alpha/beta: A study of 61 probands. J Med Genet 47: 38-48
  • Cenedella RJ (2009) Cholesterol synthesis inhibitor U18666A and the role of sterol metabolism and trafficking in numerous pathophysiological processes. Lipids 44: 477-487
  • Cioffi M, Corradino M, Gazzerro P, Vietri MT, Di Macchia C, Contursi A, Colicigno R, Catalano T, Molinari AM (2000) Serum concentrations of intact parathyroid hormone in healthy children. Clin Chem 46: 863-864
  • Claussen M, Kübler B, Wendland M, Neifer K, Schmidt B, Zapf J, Braulke T (1997) Proteolysis of insulin-like growth factors (IGF) and IGF binding proteins by cathepsin D. Endocrinology 138: 3797-3803
  • Cox TM, Aerts JM, Belmatoug N, Cappellini MD, vom Dahl S, Goldblatt J, Grabowski GA, Hollak CE, Hwu P, Maas M, et al (2008) Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring. J Inherit Metab Dis 31: 319-336
  • Coxon FP, Taylor A (2008) Vesicular trafficking in osteoclasts. Semin Cell Dev Biol 19: 424-433
  • David-Vizcarra G, Briody J, Ault J, Fietz M, Fletcher J, Savarirayan R, Wilson M, McGill J, Edwards M, Munns C, et al (2010) The natural history and osteodystrophy of mucolipidosis types II and III. J Paediatr Child Health 46: 316-322
  • De Benedetti F, Rucci N, Del Fattore A, Peruzzi B, Paro R, Longo M, Vivarelli M, Muratori F, Berni S, Ballanti P, et al (2006) Impaired skeletal development in interleukin-6-transgenic mice: A model for the impact of chronic inflammation on the growing skeletal system. Arthritis Rheum 54: 3551-3563
  • Doty SB, Schofield BH (1972) Electron microscopic localization of hydrolytic enzymes in osteoclasts. Histochem J 4: 245-258
  • Ducy P, Starbuck M, Priemel M, Shen J, Pinero G, Geoffroy V, Amling M, Karsenty G (1999) A Cbfa1-dependent genetic pathway controls bone formation beyond embryonic development. Genes Dev 13: 1025-1036
  • Edgar R, Domrachev M, Lash AE (2002) Gene Expression Omnibus: NCBI gene expression and hybridization array data repository. Nucleic Acids Res 30: 207-210
  • Edwards JR, Mundy GR (2011) Advances in osteoclast biology: Old findings and new insights from mouse models. Nat Rev Rheumatol 7: 235-243
  • Glickman JN, Kornfeld S (1993) Mannose 6-phosphate-independent targeting of lysosomal enzymes in I-cell disease B lymphoblasts. J Cell Biol 123: 99-108
  • Glorieux FH, Travers R, Taylor A, Bowen JR, Rauch F, Norman M, Parfitt AM (2000) Normative data for iliac bone histomorphometry in growing children. Bone 26: 103-109
  • Henriksen K, Karsdal MA, John Martin T (2013) Osteoclast-derived coupling factors in bone remodeling. Calcif Tissue Int, DOI 10.1007/s00223-013-9741-7
  • Huebner AK, Schinke T, Priemel M, Schilling S, Schilling AF, Emeson RB, Rueger JM, Amling M (2006) Calcitonin deficiency in mice progressively results in high bone turnover. J Bone Miner Res 21: 1924-1934
  • Husain SM, Mughal Z, Williams G, Ward K, Smith CS, Dutton J, Fraser WD (1999) Urinary excretion of pyridinium crosslinks in healthy 4–10 year olds. Arch Dis Child 80: 370-373
  • Ishimi Y, Miyaura C, Jin CH, Akatsu T, Abe E, Nakamura Y, Yamaguchi A, Yoshiki S, Matsuda T, Hirano T, et al (1990) IL-6 is produced by osteoblasts and induces bone resorption. J Immunol 145: 3297-3303
  • Kollmann K, Damme M, Markmann S, Morelle W, Schweizer M, Hermans-Borgmeyer I, Röchert AK, Pohl S, Lübke T, Michalski JC, et al (2012) Lysosomal dysfunction causes neurodegeneration in mucolipidosis II ‘knock-in’ mice. Brain 135: 2661-2675
  • Kollmann K, Pohl S, Marschner K, Encarnacao M, Sakwa I, Tiede S, Poorthuis BJ, Lübke T, Müller-Loennies S, Storch S, et al (2010) Mannose phosphorylation in health and disease. Eur J Cell Biol 89: 117-123
  • Kong YY, Feige U, Sarosi I, Bolon B, Tafuri A, Morony S, Capparelli C, Li J, Elliott R, McCabe S, et al (1999) Activated T cells regulate bone loss and joint destruction in adjuvant arthritis through osteoprotegerin ligand. Nature 402: 304-309
  • Kudo M, Bao M, D'Souza A, Ying F, Pan H, Roe BA, Canfield WM (2005) The alpha- and beta-subunits of the human UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase [corrected] are encoded by a single cDNA. J Biol Chem 280: 36141-36149
  • Kudo O, Sabokbar A, Pocock A, Itonaga I, Fujikawa Y, Athanasou NA (2003) Interleukin-6 and interleukin-11 support human osteoclast formation by a RANKL-independent mechanism. Bone 32: 1-7
  • Lucht U (1971) Acid phosphatase of osteoclasts demonstrated by electron microscopic histochemistry. Histochemie 28: 103-117
  • Marschner K, Kollmann K, Schweizer M, Braulke T, Pohl S (2011) A key enzyme in the biogenesis of lysosomes is a protease that regulates cholesterol metabolism. Science 333: 87-90
  • McLeod MJ (1980) Differential staining of cartilage and bone in whole mouse fetuses by alcian blue and alizarin red S. Teratology 22: 299-301
  • Nakashima T, Hayashi M, Fukunaga T, Kurata K, Oh-Hora M, Feng JQ, Bonewald LF, Kodama T, Wutz A, Wagner EF, et al (2011) Evidence for osteocyte regulation of bone homeostasis through RANKL expression. Nat Med 17: 1231-1234
  • Otomo T, Yamamoto T, Fujikawa Y, Shimotsuji T, Ozono K (2011) Elevated bone turnover in an infantile patient with mucolipidosis II; no association with hyperparathyroidism. Clin Pediatr Endocrinol 20: 7-12
  • Owada M, Neufeld EF (1982) Is there a mechanism for introducing acid hydrolases into liver lysosomes that is independent of mannose 6-phosphate recognition? Evidence from I-cell disease. Biochem Biophys Res Commun 105: 814-820
  • Parfitt AM, Drezner MK, Glorieux FH, Kanis JA, Malluche H, Meunier PJ, Ott SM, Recker RR (1987) Bone histomorphometry: Standardization of nomenclature, symbols, and units. Report of the ASBMR Histomorphometry Nomenclature Committee. J Bone Miner Res 2: 595-610
  • Parisien M, Silverberg SJ, Shane E, Dempster DW, Bilezikian JP (1990) Bone disease in primary hyperparathyroidism. Endocrinol Metab Clin North Am 19: 19-34
  • Poli V, Balena R, Fattori E, Markatos A, Yamamoto M, Tanaka H, Ciliberto G, Rodan GA, Costantini F (1994) Interleukin-6 deficient mice are protected from bone loss caused by estrogen depletion. EMBO J 13: 1189-1196
  • Raas-Rothschild A, Cormier-Daire V, Bao M, Genin E, Salomon R, Brewer K, Zeigler M, Mandel H, Toth S, Roe B, et al (2000) Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC). J Clin Invest 105: 673-681
  • Raggatt LJ, Partridge NC (2010) Cellular and molecular mechanisms of bone remodeling. J Biol Chem 285: 25103-25108
  • Robinson C, Baker N, Noble J, King A, David G, Sillence D, Hofman P, Cundy T (2002) The osteodystrophy of mucolipidosis type III and the effects of intravenous pamidronate treatment. J Inherit Metab Dis 25: 681-693
  • Russell RG (2011) Bisphosphonates: The first 40 years. Bone 49: 2-19
  • Schenk RK, Spiro D, Wiener J (1967) Cartilage resorption in the tibial epiphyseal plate of growing rats. J Cell Biol 34: 275-291
  • Schmidt K, Schinke T, Haberland M, Priemel M, Schilling AF, Mueldner C, Rueger JM, Sock E, Wegner M, Amling M (2005) The high mobility group transcription factor Sox8 is a negative regulator of osteoblast differentiation. J Cell Biol 168: 899-910
  • Scott BL (1967) The occurrence of specific cytoplasmic granules in the osteoclast. J Ultrastruct Res 19: 417-431
  • Silverman SL (2011) Bisphosphonate use in conditions other than osteoporosis. Ann N Y Acad Sci 1218: 33-37
  • Spranger JW, Wiedemann HR (1970) The genetic mucolipidoses. Diagnosis and differential diagnosis. Humangenetik 9: 113-139
  • Suzuki M, Sugimoto Y, Ohsaki Y, Ueno M, Kato S, Kitamura Y, Hosokawa H, Davies JP, Ioannou YA, Vanier MT, et al (2007) Endosomal accumulation of Toll-like receptor 4 causes constitutive secretion of cytokines and activation of signal transducers and activators of transcription in Niemann-Pick disease type C (NPC) fibroblasts: A potential basis for glial cell activation in the NPC brain. J Neurosci 27: 1879-1891
  • Teitelbaum SL, Ross FP (2003) Genetic regulation of osteoclast development and function. Nat Rev Genet 4: 638-649
  • Tiede S, Storch S, Lübke T, Henrissat B, Bargal R, Raas-Rothschild A, Braulke T (2005) Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. Nat Med 11: 1109-1112
  • Unger S, Paul DA, Nino MC, McKay CP, Miller S, Sochett E, Braverman N, Clarke JT, Cole DE, Superti-Furga A (2005) Mucolipidosis II presenting as severe neonatal hyperparathyroidism. Eur J Pediatr 164: 236-243
  • van Meel E, Boonen M, Zhao H, Oorschot V, Ross FP, Kornfeld S, Klumperman J (2011) Disruption of the Man-6-P targeting pathway in mice impairs osteoclast secretory lysosome biogenesis. Traffic 12: 912-924
  • Weinert S, Jabs S, Supanchart C, Schweizer M, Gimber N, Richter M, Rademann J, Stauber T, Kornak U, Jentsch TJ (2010) Lysosomal pathology and osteopetrosis upon loss of H+-driven lysosomal Cl– accumulation. Science 328: 1401-1403
  • Xiong J, Onal M, Jilka RL, Weinstein RS, Manolagas SC, O'Brien CA (2011) Matrix-embedded cells control osteoclast formation. Nat Med 17: 1235-1241