Associated Papers
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function.
Carpentieri G et al.
Hgg Advances, 2024
39210597 (PubMed )
Supplement: mmc2.xlsx › Table_S3
V-ATPase Dysfunction in the Brain: Genetic Insights and Therapeutic Opportunities.
Falace A et al.
Cells, 2024
ATP6V1B2-related disorders featuring Lennox-Gastaut-syndrome: A case-based overview.
Amore G et al.
Brain & Development, 2023
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