ArticleBlood2016
A new molecular link between defective autophagy and erythroid abnormalities in chorea-acanthocytosis.
Article in Blood, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 1 of them a synthesis that pooled it.
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Who cites it
43 citing papers in PubMed, 1 synthesis or guideline pooled it, 63 citations in OpenAlex.
- Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)Autophagy · 2021Guideline
- Endolysosomal iron-associated vesicular changes and ferroptosis-related vulnerability in VPS13A-knockdown cells.Molecular biology reports · 2026Article
- Evolutionary transfer learning enables organism-wide inference of mammalian enhancer landscapes.bioRxiv : the preprint server for biology · 2026Article
- VPS13A Deficiency Leads to Impaired Lipid Distribution and Alteration of Mitochondrial Calcium Homeostasis in Fibroblasts of VPS13A Disease Patients.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- Chorein Regulates Key Osteoblast Genes in UMR-106 Cells.Cell biochemistry and biophysics · 2026Article
- Mitapivat metabolically reprograms human β-thalassemic erythroblasts, increasing their responsiveness to oxidation.Blood advances · 2025Article
- Premature skeletal muscle aging in VPS13A deficiency relates to impaired autophagy.Acta neuropathologica communications · 2025Article
- Red blood cell lipid distribution in the pathophysiology and laboratory evaluation of chorea-acanthocytosis and McLeod syndrome patients.Frontiers in physiology · 2025Article
- The RhoB p.S73F mutation leads to cerebral palsy through dysregulation of lipid homeostasis.EMBO molecular medicine · 2024Article
- Physiological and Pathogenesis Significance of Chorein in Health and Disease.Physiological research · 2024Review
- Nrf2 Plays a Key Role in Erythropoiesis during Aging.Antioxidants (Basel, Switzerland) · 2024Article
- The Role of Chorein Deficiency in Late Spermatogenesis.Biomedicines · 2024Article
- Preserved VPS13A distribution and expression in Huntington's disease: divergent mechanisms of action for similar movement disorders?Frontiers in neuroscience · 2024Article
- Exploring the pathophysiological mechanisms and wet biomarkers ofFrontiers in neurology · 2024Review
- Osmotic gradient ektacytometry - a novel diagnostic approach for neuroacanthocytosis syndromes.Frontiers in neuroscience · 2024Article
- An Autopsy Series of Seven Cases of VPS13A Disease (Chorea-Acanthocytosis).Movement disorders : official journal of the Movement Disorder Society · 2023Article
- Effect of rapamycin on lysosomal accumulation in a CRISPR/Cas9-based cellular model of VPS13A deficiency.Journal of cellular and molecular medicine · 2023Article
- Autophagy and beyond: Unraveling the complexity of UNC-51-like kinase 1 (ULK1) from biological functions to therapeutic implications.Acta pharmaceutica Sinica. B · 2022Review
- Changes in Blood Cell Deformability in Chorea-Acanthocytosis and Effects of Treatment With Dasatinib or Lithium.Frontiers in physiology · 2022Article
- Human erythroid differentiation requires VDAC1-mediated mitochondrial clearance.Haematologica · 2022Article
Corrections and comments
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Authors and funding
17 authors at 7 institutions in 3 countries.
Funding
Abstract
Chorea-acanthocytosis is one of the hereditary neurodegenerative disorders known as the neuroacanthocytoses. Chorea-acanthocytosis is characterized by circulating acanthocytes deficient in chorein, a protein of unknown function. We report here for the first time that chorea-acanthocytosis red cells are characterized by impaired autophagy, with cytoplasmic accumulation of active Lyn and of autophagy-related proteins Ulk1 and Atg7. In chorea-acanthocytosis erythrocytes, active Lyn is sequestered by HSP90-70 to form high-molecular-weight complexes that stabilize and protect Lyn from its proteasomal degradation, contributing to toxic Lyn accumulation. An interplay between accumulation of active Lyn and autophagy was found in chorea-acanthocytosis based on Lyn coimmunoprecipitation with Ulk1 and Atg7 and on the presence of Ulk1 in Lyn-containing high-molecular-weight complexes. In addition, chorein associated with Atg7 in healthy but not in chorea-acanthocytosis erythrocytes. Electron microscopy detected multivesicular bodies and membrane remnants only in circulating chorea-acanthocytosis red cells. In addition, reticulocyte-enriched chorea-acanthocytosis red cell fractions exhibited delayed clearance of mitochondria and lysosomes, further supporting the impairment of authophagic flux. Because autophagy is also important in erythropoiesis, we studied in vitro CD34
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