Jos Jansen

6 145 Discussion and conclusion 20. Polishchuk R, Lutsenko S. Golgi in copper homeostasis: a view from the membrane trafficking field. Histochemistry and cell biology. 2013;140(3):285-95. 21. Nyasae LK, Schell MJ, Hubbard AL. Copper directs ATP7B to the apical domain of hepatic cells via basolateral endosomes. Traffic. 2014;15(12):1344-65. 22. Lutsenko S, Barnes NL, Bartee MY, Dmitriev OY. Function and regulation of human copper- transporting ATPases. Physiological reviews. 2007;87(3):1011-46. 23. Holloway ZG, Velayos-Baeza A, Howell GJ, Levecque C, Ponnambalam S, Sztul E, et al. Trafficking of the Menkes copper transporter ATP7A is regulated by clathrin-, AP-2-, AP-1-, and Rab22- dependent steps. Molecular biology of the cell. 2013;24(11):1735-48, S1-8. 24. Polishchuk EV, Concilli M, Iacobacci S, Chesi G, Pastore N, Piccolo P, et al. Wilson disease protein ATP7B utilizes lysosomal exocytosis to maintain copper homeostasis. Developmental cell. 2014;29(6):686-700. 25. Yang DQ, Feng S, Chen W, Zhao H, Paulson C, Li YP. V-ATPase subunit ATP6AP1 (Ac45) regulates osteoclast differentiation, extracellular acidification, lysosomal trafficking, and protease exocytosis in osteoclast-mediated bone resorption. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 2012;27(8):1695-707. 26. Nilsson L, Aden J, Niemiec MS, Nam K, Wittung-Stafshede P. Small pH and salt variations radically alter the thermal stability of metal-binding domains in the copper transporter, Wilson disease protein. The journal of physical chemistry B. 2013;117(42):13038-50. 27. Safaei R, Otani S, Larson BJ, Rasmussen ML, Howell SB. Transport of cisplatin by the copper efflux transporter ATP7B. Molecular pharmacology. 2008;73(2):461-8. 28. Carter A, Brackley SM, Gao J, Mann JP. The global prevalence and genetic spectrum of lysosomal acid lipase deficiency: A rare condition that mimics NAFLD. Journal of hepatology. 2019;70(1):142- 50. 29. Burton BK, Balwani M, Feillet F, Baric I, Burrow TA, Camarena Grande C, et al. A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency. The New England journal of medicine. 2015;373(11):1010-20. 30. Reiner Z, Guardamagna O, Nair D, Soran H, Hovingh K, Bertolini S, et al. Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction. Atherosclerosis. 2014;235(1):21-30. 31. Wheeler S, Sillence DJ. Niemann-Pick type C disease: cellular pathology and pharmacotherapy. Journal of neurochemistry. 2019. 32. Vanier MT. Complex lipid trafficking in Niemann-Pick disease type C. Journal of inherited metabolic disease. 2015;38(1):187-99. 33. Vanier MT. Niemann-Pick disease type C. Orphanet journal of rare diseases. 2010;5:16. 34. Yerushalmi B, Sokol RJ, Narkewicz MR, Smith D, Ashmead JW, Wenger DA. Niemann-pick disease type C in neonatal cholestasis at a North American Center. Journal of pediatric gastroenterology and nutrition. 2002;35(1):44-50. 35. Walter M, Chen FW, Tamari F, Wang R, Ioannou YA. Endosomal lipid accumulation in NPC1 leads to inhibition of PKC, hypophosphorylation of vimentin and Rab9 entrapment. Biology of the cell / under the auspices of the European Cell Biology Organization. 2009;101(3):141-52. 36. Sarria AJ, Panini SR, Evans RM. A functional role for vimentin intermediate filaments in the metabolism of lipoprotein-derived cholesterol in human SW-13 cells. The Journal of biological chemistry. 1992;267(27):19455-63.

RkJQdWJsaXNoZXIy ODAyMDc0