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doi: 10.1002/mds.28056 89 LiX

R.Guerrini, D.Mei, K.Kerti-Szigeti, S.Pepe, M.Kay Koenig, G.Von Allmen, M.T Cho, K.McDonald, J.Baker, V.Bhambhani, Z.Powis, L.Rodan, R.Nabbout, G.Barcia, J.A.Rosenfeld, C.A.Bacino, C.Mignot, L.H.Power, C.J.Harris, D.Marjanovic, R.S.Mller, T.B.Hammer, The DDD Study, R.K.Filppula, P.Vieira, C.Hildebrandt, S.Sacharow, Undiagnosed Diseases Network, L.Maragliano, F.Benfenati, K.Lachlan, A.Benneche, F.Petit, J.M.De Sainte Agathe, B.Hallinan, Y.Si, I.M.Wentzensen, F.Zou, V.Narayanan, N.Matsumoto, A.Boncristiano, G.La Marca, M.Kato, K.Anderson, C.Barba, L.Sturiale, D.Garozzo, R.Bei, ATP6V1A collaborators, L.Masuelli, V.Conti, G.Novarino, A.Fassio Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis Brain 145(8), 2687-2703 (2022) DOI: Abstract: Vacuolar-type H + -ATPase (V-ATPase) is a multimeric complex present in a variety of cellular membranes that acts as an ATP-dependent proton pump and plays a key role in pH homeostasis and intracellular signalling pathways

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Huynh K, Lim WL, Giles C, Jayawardana KS, Salim A, Mellett NA, Smith AA, Olshansky G, Drew BG, Chatterjee P, Martins I, Laws SM, Bush AI, Rowe CC, Villemagne VL, Ames D, Masters CL, Arnold M, Nho K, Saykin AJ, Baillie R, Han X, Kaddurah-Daouk R, Martins RN, Meikle PJ

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Most clinical observations suggest that it is well-tolerated when taken orally or used in a liposomal format