Jos Jansen

3 83 TMEM199 Deficiency is characterized by elevated liverenzymes, hypercholesterolemia and abnormal glycosylation 17. Forgac, M. (2007). Vacuolar ATPases: rotary proton pumps in physiology and pathophysiology. Nat. Rev. Mol. Cell Biol. 8, 917–929. 18. Stránecký, V., Hoischen, A., Hartmannová, H., Zaki, M.S., Chaudhary, A., Zudaire, E., Nosková, L., Baresová, V., Pristoupilová, A., Hodanová, K., et al. (2013). Mutations in ANTXR1 cause GAPO syndrome. Am. J. Hum. Genet. 92, 792–799. 19. Vissers, L.E., de Ligt, J., Gilissen, C., Janssen, I., Steehouwer, M., de Vries, P., van Lier, B., Arts, P.,Wieskamp, N., del Rosario, M., et al. (2010). A de novo paradigm for mental retardation. Nat. Genet. 42, 1109–1112. 20. Calvo, P.L., Pagliardini, S., Baldi, M., Pucci, A., Sturiale, L., Garozzo, D., Vinciguerra, T., Barbera, C., and Jaeken, J. (2008). Long-standing mild hypertransaminasaemia caused by congenital disorder of glycosylation (CDG) type IIx. J. Inherit. Metab. Dis. 31 (Suppl 2), S437–S440. 21. Vanbeselaere, J., Vicogne, D., Matthijs, G., Biot, C., Foulquier, F., and Guerardel, Y. (2013). Alkynyl monosaccharide analogues as a tool for evaluating Golgi glycosylation efficiency: application to Congenital Disorders of Glycosylation (CDG). Chem. Commun. (Camb.) 49, 11293–11295. 22. Jansen, J.C., Cirak, S., Van Scherpenzeel, M., Timal, S., Reunert, J., Rust, S., Perez, B., Vicogne, D., Krawitz, P., Wada, Y., et al. (2016). CCDC115 deficiency causes a disorder of Golgi homeostasis characterized by abnormal protein glycosylation. Am. J. Hum. Genet. 98, this issue, 316–328. 23. 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. 24. Borthwick, K.J., Kandemir, N., Topaloglu, R., Kornak, U., Bakkaloglu, A., Yordam, N., Ozen, S., Mocan, H., Shah, G.N., Sly, W.S., and Karet, F.E. (2003). A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis. J. Med. Genet. 40, 115–121. 25. Karet, F.E., Finberg, K.E., Nelson, R.D., Nayir, A., Mocan, H., Sanjad, S.A., Rodriguez-Soriano, J., Santos, F., Cremers, C.W., Di Pietro, A., et al. (1999). Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. Nat. Genet. 21, 84–90. 26. 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. 27. Kortüm, F., Caputo, V., Bauer, C.K., Stella, L., Ciolfi, A., Alawi, M., Bocchinfuso, G., Flex, E., Paolacci, S., Dentici, M.L., et al. (2015). Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome. Nat. Genet. 47, 661–667. 28. 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. 29. Li, Y.P., Chen, W., Liang, Y., Li, E., and Stashenko, P. (1999). Atp6i-deficient mice exhibit severe osteopetrosis due to loss of osteoclast-mediated extracellular acidification. Nat. Genet. 23, 447–451. 30. Guillard, M., Dimopoulou, A., Fischer, B., Morava, E., Lefeber, D.J., Kornak, U., andWevers, R.A. (2009). Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa. Biochim. Biophys. Acta 1792, 903–914. 31. Guruharsha, K.G., Rual, J.F., Zhai, B., Mintseris, J., Vaidya, P., Vaidya, N., Beekman, C., Wong, C., Rhee, D.Y., Cenaj, O., et al. (2011). A protein complex network of Drosophila melanogaster. Cell 147, 690–703.