Article
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function.
HGG advances - 10 Oct 2024
Carpentieri Giovanna, Cecchetti Serena, Bocchinfuso Gianfranco, Radio Francesca Clementina, Leoni Chiara, Onesimo Roberta, Calligari Paolo, Pietrantoni Agostina, Ciolfi Andrea, Ferilli Marco, Calderan Cristina, Cappuccio Gerarda, Martinelli Simone, Messina Elena, Caputo Viviana, Hüffmeier Ulrike, Mignot Cyril, Auvin Stéphane, Capri Yline, Lourenco Charles Marques, Russell Bianca E, Neustad Ahna, Brunetti Pierri Nicola, Keren Boris, Reis André, Cohen Julie S, Heidlebaugh Alexis, Smith Clay, Thiel Christian T, Salviati Leonardo, Zampino Giuseppe, Campeau Philippe M, Stella Lorenzo, Tartaglia Marco, Flex Elisabetta
Abstract excerpt
The vacuolar H+-ATPase (V-ATPase) is a functionally conserved multimeric complex localized at the membranes of many organelles where its proton-pumping action is required for proper lumen acidification. The V-ATPase complex is composed of several subunits, some of which have been linked to human disease. We and others previously reported pathogenic dominantly acting variants in ATP6V1B2, the gene encoding the...
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