Article
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
Brain : a journal of neurology - 27 Aug 2022
Guerrini Renzo, Mei Davide, Kerti-Szigeti Katalin, Pepe Sara, Koenig Mary Kay, Von Allmen Gretchen, Cho Megan T, McDonald Kimberly, Baker Janice, Bhambhani Vikas, Powis Zöe, Rodan Lance, Nabbout Rima, Barcia Giulia, Rosenfeld Jill A, Bacino Carlos A, Mignot Cyril, Power Lillian H, Harris Catharine J, Marjanovic Dragan, Møller Rikke S, Hammer Trine B, Keski Filppula Riikka, Vieira Päivi, Hildebrandt Clara, Sacharow Stephanie, Maragliano Luca, Benfenati Fabio, Lachlan Katherine, Benneche Andreas, Petit Florence, de Sainte Agathe Jean Madeleine, Hallinan Barbara, Si Yue, Wentzensen Ingrid M, Zou Fanggeng, Narayanan Vinodh, Matsumoto Naomichi, Boncristiano Alessandra, la Marca Giancarlo, Kato Mitsuhiro, Anderson Kristin, Barba Carmen, Sturiale Luisa, Garozzo Domenico, Bei Roberto, Masuelli Laura, Conti Valerio, Novarino Gaia, Fassio Anna
Abstract excerpt
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. In humans, 22 autosomal genes encode for a redundant set of subunits allowing the composition of diverse V-ATPase complexes with specific properties and expression. Sixteen subunits have been...
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