Jos Jansen

54 Chapter 2 32. Ramachandran, N., Munteanu, I., Wang, P., Ruggieri, A., Rilstone, J.J., Israelian, N., Naranian, T., Paroutis, P., Guo, R., Ren, Z.P., et al. (2013). VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy. Acta Neuropathol. 125, 439–457. 33. Jansen, J.C., Timal, S., Van Scherpenzeel, M., Michelakakis, H., Vicogne, D., Moraitou, M., Hoischen, A., Huijben, K., Steenbergen, G., van den Boogaard, M.A.W., et al. (2015). TMEM199 deficiency causes a Golgi homeostasis disorder characterized by elevated aminotransferases, alkaline phosphatase, and cholesterol and abnormal glycosylation. Am. J. Hum. Genet. 98, this issue, 329–337. 34. =Janssen, M.J.,Waanders, E.,Woudenberg, J., Lefeber, D.J., and Drenth, J.P. (2010). Congenital disorders of glycosylation in hepatology: the example of polycystic liver disease. J. Hepatol. 52, 432–440. 35. Mercier, S., Magot, A., Caillon, F., Isidor, B., David, A., Ferrer, X., Vital, A., Coquet, M., Penttilã, S., Udd, B., et al. (2015). Muscle magnetic resonance imaging abnormalities in X-linked myopathy with excessive autophagy. Muscle Nerve 52, 673–680. 36. Ruggieri, A., Ramachandran, N., Wang, P., Haan, E., Kneebone, C., Manavis, J., Morandi, L., Moroni, I., Blumbergs, P., Mora, M., and Minassian, B.A. (2015). Non-coding VMA21 deletions cause X-linked myopathy with excessive autophagy. Neuromuscul. Disord. 25, 207–211. 37. Frattini, A., Orchard, P.J., Sobacchi, C., Giliani, S., Abinun,M., Mattsson, J.P., Keeling, D.J., Andersson, A.K., Wallbrandt, P., Zecca, L., et al. (2000). Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. Nat. Genet. 25, 343–346. 38. Smith, A.N., Skaug, J., Choate, K.A., Nayir, A., Bakkaloglu, A., Ozen, S., Hulton, S.A., Sanjad, S.A., Al-Sabban, E.A., Lifton, R.P., et al. (2000). Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Nat. Genet. 26, 71–75. 39. Fischer, B., Dimopoulou, A., Egerer, J., Gardeitchik, T., Kidd, A., Jost, D., Kayserili, H., Alanay, Y., Tantcheva-Poor, I., Mangold, E., et al. (2012). Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Hum. Genet. 131, 1761–1773. 40. Guillard, M., Dimopoulou, A., Fischer, B., Morava, E., Lefeber, D.J., Kornak, U., and Wevers, R.A. (2009). Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa. Biochim. Biophys. Acta 1792, 903–914. 41. Vanier,M.T. (2010). Niemann-Pick disease type C. Orphanet J. Rare Dis. 5, 16. 42. Vanier, M.T. (2015). Complex lipid trafficking in Niemann-Pick disease type C. J. Inherit. Metab. Dis. 38, 187–199. 43. Storch, J., and Xu, Z. (2009). Niemann-Pick C2 (NPC2) and intracellular cholesterol trafficking. Biochim. Biophys. Acta 1791, 671–678. 44. Howard, M.F., Murakami, Y., Pagnamenta, A.T., Daumer-Haas, C., Fischer, B., Hecht, J., Keays, D.A., Knight, S.J., Kölsch, U., Krüger, U., et al. (2014). Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation. Am. J. Hum. Genet. 94, 278–287. 45. Krawitz, P.M., Murakami, Y., Hecht, J., Krüger, U., Holder, S.E., Mortier, G.R., Delle Chiaie, B., De Baere, E., Thompson, M.D., Roscioli, T., et al. (2012). Mutations in PIGO, a member of the GPI- anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. Am. J. Hum. Genet. 91, 146–151. 46. Muñiz, M., and Zurzolo, C. (2014). Sorting of GPI-anchored proteins from yeast to mammals–common pathways at different sites? J. Cell Sci. 127, 2793–2801.

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