Vacuolar Proton-Translocating ATPases

Displaying 1 - 3 of 3CSV
Mattison, K. A., Tossing, G., Mulroe, F., Simmons, C., Butler, K. M., Schreiber, A., Alsadah, A., Neilson, D. E., Naess, K., Wedell, A., Wredenberg, A., Sorlin, A., McCann, E., Burghel, G. J., Menendez, B., Hoganson, G. E., Botto, L. D., Filloux, F. M., Aledo-Serrano, Á., … Escayg, A. (2022). ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy. Brain, 146(4), 1357–1372. https://doi.org/10.1093/brain/awac330
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Columbia Affiliation
Alharbi, H., Daniel, E. J. P., Thies, J., Chang, I., Goldner, D. L., Ng, B. G., Witters, P., Aqul, A., Velez‐Bartolomei, F., Enns, G. M., Hsu, E., Kichula, E., Lee, E., Lourenco, C., Poskanzer, S. A., Rasmussen, S., Saarela, K., Wang, Y. M., Raymond, K. M., … He, M. (2023). Fractionated plasma N‐glycan profiling of novel cohort of ATP6AP1‐CDG subjects identifies phenotypic association. Journal of Inherited Metabolic Disease, 46(2), 300–312. Portico. https://doi.org/10.1002/jimd.12589
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Barua, S., Berger, S., Pereira, E. M., & Jobanputra, V. (2022). Expanding the phenotype of ATP6AP1 deficiency. Molecular Case Studies, 8(4), a006195. https://doi.org/10.1101/mcs.a006195
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