Associated Papers
Utilizing C. elegans Spermatogenesis and Fertilization Mutants as a Model for Human Disease.
Perez SM et al.
Journal of Developmental Biology, 2025
Epilepsy due to potential loss of ATP6V1B2 function with mechanistic insight by a Drosophila Vha55 model.
Sheng W et al.
Clinical Genetics, 2024
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
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Kliche J et al.
Molecular Systems Biology, 2024
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
The ATP6V1B2 DDOD/DOORS-Associated p.Arg506* Variant Causes Hyperactivity and Seizures in Mice.
Rousseau J et al.
Genes, 2023
A novel pathogenic ATP6V1B2 variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype.
Veltra D et al.
American Journal of Medical Genetics. Part A, 2022
Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes.
Gao X et al.
Human Genetics, 2022
DOORS syndrome and a recurrent truncating ATP6V1B2 variant.
Beauregard-Lacroix E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
ATP6V1B2-related epileptic encephalopathy.
Inuzuka LM et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2020
Clinicopathological Relationships in an Aged Case of DOORS Syndrome With a p.Arg506X Mutation in the ATP6V1B2 Gene.
Zádori D et al.
Frontiers in Neurology, 2020
A subunit of V-ATPases, ATP6V1B2, underlies the pathology of intellectual disability.
Zhao W et al.
Ebiomedicine, 2019
Dominant deafness-onychodystrophy syndrome caused by an ATP6V1B2 mutation.
Menendez I et al.
Clinical Case Reports, 2017
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.
Kortüm F et al.
Nature Genetics, 2015