ArticleBrain communications2021
Variants in
Open access · goldAbstract read
In one paragraph
Article in Brain communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed
3.3field-weighted citation impact, top 7% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
20 citing papers in PubMed, 30 citations in OpenAlex.
- Testing the Transferability of Perturbational Similarity Maps Across Species, Cell Systems, and Assay Modalities.Neuroinformatics · 2026Article
- Refractory focal seizures occurred in clusters in a girl with a de novo mutation of the ATP6V0A1 gene: a case report.Journal of medical case reports · 2026Article
- Alzheimer's Disease: From Pathogenesis to Emerging Therapeutic Targets.Journal of clinical medicine · 2026Review
- Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia.American journal of human genetics · 2026Article
- Spatial Regulation of Lysosomal Vesicle Acidification Along the Axon via mRAVE-Dependent v-ATPase Assembly.bioRxiv : the preprint server for biology · 2025Article
- [Effect of dephosphorylation of tumor metastasis suppressor geneBeijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences · 2025Article
- Pathophysiological Mechanisms Fostering Developmental and Epileptic Encephalopathies (DEE): a Complex Interplay between Genetics, Inflammation and Neurodegeneration.Current neurology and neuroscience reports · 2025Review
- V-ATPase and Lysosomal Energy Sensing in Periodontitis and Medicine-Related Osteonecrosis of the Jaw.Biomolecules · 2025Review
- Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes.Epilepsia open · 2025Review
- Lysosomal Ion Channels and Transporters: Recent Findings, Therapeutic Potential, and Technical Approaches.Bioelectricity · 2025Review
- Article
- Golgi pH elevation due to loss of V-ATPase subunit V0a2 function correlates with tissue-specific glycosylation changes and globozoospermia.Cellular and molecular life sciences : CMLS · 2024Article
- Upregulation of ACSL, ND75, Vha26 and sesB genes by antiepileptic drugs resulted in genotoxicity in drosophila.Toxicology research · 2024Article
- Trio-whole exome sequencing reveals the importance of de novo variants in children with intellectual disability and developmental delay.Scientific reports · 2024Article
- Review
- Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances.Genes · 2024Article
- ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.Brain : a journal of neurology · 2023Article
- The cytosolic N-terminal domain of V-ATPase a-subunits is a regulatory hub targeted by multiple signals.Frontiers in molecular biosciences · 2023Review
- Structural and functional understanding of disease-associated mutations in V-ATPase subunit a1 and other isoforms.Frontiers in molecular neuroscience · 2023Review
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
29 authors at 10 institutions in 6 countries.
Laura C BottDepartment of Molecular Biosciences, Rice Institute for Biomedical Research, Northwestern University, Evanston, IL 60208, USA.
Mitra ForouhanDepartment of Paediatrics, University of Oxford, Oxford OX1 3QX, UK.
Maria LietoDepartment of Physiology, Anatomy and Genetics, Oxford OX1 3QX, UK.
Ambre J SalaDepartment of Molecular Biosciences, Rice Institute for Biomedical Research, Northwestern University, Evanston, IL 60208, USA.
Ruth ElleringtonDepartment of Paediatrics, University of Oxford, Oxford OX1 3QX, UK.
Janel O JohnsonNeuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA.
Alfina A SpecialeDepartment of Paediatrics, University of Oxford, Oxford OX1 3QX, UK.
Chiara CriscuoloDepartment of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Naples 80121, Italy.
Alessandro FillaDepartment of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, Naples 80121, Italy.
David ChitayatDivision of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario M5G 1X8, Canada.
Ebba AlkhunaiziDivision of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario M5G 1X8, Canada.
Patrick ShannonDepartment of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Ontario M5G 1X5, Canada.
Andrea H NemethNuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK.
Italian Undiagnosed Diseases Network
Francesco AngelucciDepartment of Life, Health and Environmental Sciences, University of L'Aquila, 67100 Coppito, L'Aquila, Italy.
Wooi Fang LimDepartment of Paediatrics, University of Oxford, Oxford OX1 3QX, UK.
Pasquale StrianoInstitute for Research, Hospitalization and Health Care (IRCCS) "G. Gaslini" Institute, Genova 16147, Italy.
Federico ZaraInstitute for Research, Hospitalization and Health Care (IRCCS) "G. Gaslini" Institute, Genova 16147, Italy.
Ingo HelbigDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Mikko MuonaBlueprint Genetics, 02150 Espoo, Finland.
Carolina CourageFolkhälsan Research Center, Helsinki, Finland.
Anna-Elina LehesjokiFolkhälsan Research Center, Helsinki, Finland.ORCID https://orcid.org/0000-0003-4014-3113
Samuel F BerkovicEpilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria 3010, Australia.ORCID https://orcid.org/0000-0003-4580-841X
ATPase Consortium
Kenneth H FischbeckNeurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, MD 20892, USA.
Francesco BrancatiDepartment of Life, Health and Environmental Sciences, University of L'Aquila, 67100 Coppito, L'Aquila, Italy.
Richard I MorimotoDepartment of Molecular Biosciences, Rice Institute for Biomedical Research, Northwestern University, Evanston, IL 60208, USA.
Matthew J A WoodDepartment of Paediatrics, University of Oxford, Oxford OX1 3QX, UK.
Carlo RinaldiDepartment of Paediatrics, University of Oxford, Oxford OX1 3QX, UK.ORCID https://orcid.org/0000-0002-6065-1476
University of Oxford · GBNorthwestern University · USFederico II University Hospital · ITMount Sinai Hospital · CANational Institutes of Health · USUniversity of Helsinki · FIChildren's Hospital of Philadelphia · USIstituto Giannina Gaslini · ITUniversity of L'Aquila · ITThe University of Melbourne · AU
Funding
Tissue resident macrophages regulate proteostasis in the aging lungP01AG049665 · NIA · NORTHWESTERN UNIVERSITY AT CHICAGO · PI GR Scott Budinger · 2015 to 2026
$26.9MThe proteasome in aging and neurodegenerative diseaseP01AG054407 · NIA · NORTHWESTERN UNIVERSITY · PI MORIMOTO, RICHARD I · 2018 to 2022
$14.0MC. elegans Model for Neurodegenerative Diseases of AgingR37AG026647 · NIA · NORTHWESTERN UNIVERSITY · PI MORIMOTO, RICHARD I · 2010 to 2019
$3.9MRegulation of Peripheral ProteostasisRF1AG057296 · NIA · NORTHWESTERN UNIVERSITY · PI MORIMOTO, RICHARD I · 2017 to 2017
$3.0MGenome wide SNP analysis in Parkinson's diseaseZ01AG000949 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW B · 2006 to 2008
$2.6MCell non-autonomous regulation of proteostasis in aging and longevityR56AG059579 · NIA · NORTHWESTERN UNIVERSITY · PI MORIMOTO, RICHARD I · 2018 to 2018
$377kIntramural NIH HHS Z01 AG000949NIA NIH HHS P01 AG049665NIA NIH HHS P01 AG054407NIA NIH HHS R37 AG026647NIA NIH HHS R56 AG059579NIA NIH HHS RF1 AG057296Wellcome Trust
Abstract
The vacuolar H
Indexed as
Caenorhabditis elegans disease modellingepileptic encephalopathylysosomal diseaseorganelle acidificationV-ATPase
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.