ArticleEBioMedicine2019
A subunit of V-ATPases, ATP6V1B2, underlies the pathology of intellectual disability.
Article in EBioMedicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 41 citations in OpenAlex.
- Aberrant protein S-nitrosylation disrupts axonal development and metabolic homeostasis in a Cntnap2 mouse model of autism.Redox biology · 2026Article
- Therapeutic potential of cAMP-mediated lysosomal pH modulation in ATP6V1B2-related neuropathology.Cell death discovery · 2026Article
- Identification of genes associated with smell dysfunction in Parkinson's disease.Clinical parkinsonism & related disorders · 2026Article
- Single Administration of AAV-mAtp6v1b2 Gene Therapy Rescues Hearing and Vestibular Disorders Caused by Atp6v1b2-Induced Lysosomal Dysfunction in Hair Cells.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Clinical Insights into Bilateral Cochlear Implantation for a Child with Dominant Deafness-Onychodystrophy Syndrome.Journal of the American Academy of Audiology · 2025Article
- UtilizingJournal of developmental biology · 2025Review
- Case Report: Dominant deafness-onychodystrophy syndrome and hypokalemic periodic paralysis in a single patient: a rare syndromic overlap.Frontiers in pediatrics · 2025Article
- Malate initiates a proton-sensing pathway essential for pH regulation of inflammation.Signal transduction and targeted therapy · 2024Article
- Review
- TheGenes · 2023Article
- Novel Mutations in the Non-Structure Protein 2 of SARS-CoV-2.Mediterranean journal of hematology and infectious diseases · 2023Article
- Bioinformatics Analysis of Next Generation Sequencing Data Identifies Molecular Biomarkers Associated With Type 2 Diabetes Mellitus.Clinical medicine insights. Endocrinology and diabetes · 2023Article
- Loss of neurodevelopmental-associated miR-592 impairs neurogenesis and causes social interaction deficits.Cell death & disease · 2022Article
- Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes.Human genetics · 2022Review
- Changes in the expression of the B subunit of vacuolar HIranian journal of basic medical sciences · 2021Article
- Correspondence on "DOORS syndrome and a recurrent truncating ATP6V1B2 variant" by Beauregard-Lacroix et al.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- The HAmerican journal of physiology. Cell physiology · 2021Review
- Gene4HL: An Integrated Genetic Database for Hearing Loss.Frontiers in genetics · 2021Article
- DOORS syndrome and a recurrent truncating ATP6V1B2 variant.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Syndromic Deafness GeneFrontiers in cell and developmental biology · 2021Article
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10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDominant deafness-onychodystrophy (DDOD) syndrome is a rare disorder mainly characterized by severe deafness, onychodystrophy and brachydactyly. We previously identified c.1516C > T (p.Arg506X) in ATP6V1B2 as cause of DDOD syndrome, accounting for all cases of this genetic disorder. Clinical follow-up of DDOD syndrome patients with cochlear implantation revealed the language rehabilitation was unsatisfactory although the implanted cochlea worked well, which indicates there might be learning and memory problems in DDOD syndrome patients. However, the underlying mechanisms were unknown.
methodsatp6v1b2 knockdown zebrafish and Atp6v1b2 c.1516C > T knockin mice were constructed to explore the phenotypes and related mechanism. In mutant mice, auditory brainstem response test and cochlear morphology analysis were performed to evaluate the auditory function. Behavioral tests were used to investigate various behavioral and cognitive domains. Resting-state functional magnetic resonance imaging was used to evaluate functional connectivity in the mouse brain. Immunofluorescence, Western blot, and co-immunoprecipitation were performed to examine the expression and interactions between the subunits of V-ATPases.
findingsatp6v1b2 knockdown zebrafish showed developmental defects in multiple organs and systems. However, Atp6v1b2 c.1516C > T knockin mice displayed obvious cognitive defects but normal hearing and cochlear morphology. Impaired hippocampal CA1 region and weaker interaction between the V1E and B2 subunits in Atp6v1b2
interpretationOur study extends the phenotypic range of DDOD syndrome. The impaired hippocampal CA1 region may be the pathological basis of the behavioral defects in mutant mice. The molecular mechanism underlying V-ATPases dysfunction involves a weak interaction between subunits, although the assembly of V-ATPases can still take place.
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