ArticleAmerican journal of human genetics2020
VPS4A Mutations in Humans Cause Syndromic Congenital Dyserythropoietic Anemia due to Cytokinesis and Trafficking Defects.
Article in American journal of human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02964494 (The Congenital Dyserythropoietic Anemia Registry), which is not on this map. Cited by 18 papers.
What it found
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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.
The Congenital Dyserythropoietic Anemia Registry (CDAR)
Who cites it
18 citing papers in PubMed, 32 citations in OpenAlex.
- Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR).Blood cells, molecules & diseases · 2021Trial
- Review
- Exploiting autophagy and related pathways: pioneering new horizons in cataract therapy.Apoptosis : an international journal on programmed cell death · 2025Review
- Review
- Defects in Exosome Biogenesis Are Associated with Sensorimotor Defects in ZebrafishThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2024Article
- Loss of HD-PTP function results in lipodystrophy, defective cellular signaling and altered lipid homeostasis.Journal of cell science · 2024Article
- Germ fate determinants protect germ precursor cell division by reducing septin and anillin levels at the cell division plane.Molecular biology of the cell · 2024Article
- The human AAA-ATPase VPS4A isoform and its co-factor VTA1 have a unique function in regulating mammalian cytokinesis abscission.PLoS biology · 2024Article
- A neurodevelopmental disorder associated with a loss-of-function missense mutation in RAB35.The Journal of biological chemistry · 2024Article
- EHBP1L1, an apicobasal polarity regulator, is critical for nuclear polarization during enucleation of erythroblasts.Blood advances · 2023Article
- Review
- Genomic sequencing has a high diagnostic yield in children with congenital anomalies of the heart and urinary system.Frontiers in pediatrics · 2023Article
- Lipid Polarization during Cytokinesis.Cells · 2022Review
- Anemia in the pediatric patient.Blood · 2022Article
- Centrosome function is critical during terminal erythroid differentiation.The EMBO journal · 2022Article
- Transcriptional profiles in olfactory pathway-associated brain regions of African green monkeys: Associations with age and Alzheimer's disease neuropathology.Alzheimer's & dementia (New York, N. Y.) · 2022Article
- PI(3,4)P2-mediated cytokinetic abscission prevents early senescence and cataract formation.Science (New York, N.Y.) · 2021Article
- De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.American journal of human genetics · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 4 institutions in 1 country.
Funding
Abstract
The Congenital Dyserythropoietic Anemia (CDA) Registry was established with the goal to facilitate investigations of natural history, biology, and molecular pathogenetic mechanisms of CDA. Three unrelated individuals enrolled in the registry had a syndrome characterized by CDA and severe neurodevelopmental delay. They were found to have missense mutations in VPS4A, a gene coding for an ATPase that regulates the ESCRT-III machinery in a variety of cellular processes including cell division, endosomal vesicle trafficking, and viral budding. Bone marrow studies showed binucleated erythroblasts and erythroblasts with cytoplasmic bridges indicating abnormal cytokinesis and abscission. Circulating red blood cells were found to retain transferrin receptor (CD71) in their membrane, demonstrating that VPS4A is critical for normal reticulocyte maturation. Using proband-derived induced pluripotent stem cells (iPSCs), we have successfully modeled the hematologic aspects of this syndrome in vitro, recapitulating their dyserythropoietic phenotype. Our findings demonstrate that VPS4A mutations cause cytokinesis and trafficking defects leading to a human disease with detrimental effects to erythropoiesis and neurodevelopment.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.