ArticlePloS one2015
Abnormal red cell structure and function in neuroacanthocytosis.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 33 citations in OpenAlex.
- Red blood cell lipid distribution in the pathophysiology and laboratory evaluation of chorea-acanthocytosis and McLeod syndrome patients.Frontiers in physiology · 2025Article
- Case report: Neuroacanthocytosis associated with novel variants in theFrontiers in neuroscience · 2024Article
- Osmotic gradient ektacytometry - a novel diagnostic approach for neuroacanthocytosis syndromes.Frontiers in neuroscience · 2024Article
- Morphometric and Nanomechanical Screening of Peripheral Blood Cells with Atomic Force Microscopy for Label-Free Assessment of Alzheimer's Disease, Parkinson's Disease, and Amyotrophic Lateral Sclerosis.International journal of molecular sciences · 2023Review
- Probing Red Blood Cell Membrane Microviscosity Using Fluorescence Anisotropy Decay Curves of the Lipophilic Dye PKH26.International journal of molecular sciences · 2022Article
- Changes in Blood Cell Deformability in Chorea-Acanthocytosis and Effects of Treatment With Dasatinib or Lithium.Frontiers in physiology · 2022Article
- Morphometry and Stiffness of Red Blood Cells-Signatures of Neurodegenerative Diseases and Aging.International journal of molecular sciences · 2021Article
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- COVID-19 Lung Pathogenesis in SARS-CoV-2 Autopsy Cases.Frontiers in immunology · 2021Article
- The impact of circulation in a heart-lung machine on function and survival characteristics of red blood cells.Artificial organs · 2020Article
- The Relationship Between Aggregation and Deformability of Red Blood Cells in Health and Disease.Frontiers in physiology · 2020Review
- Red Blood Cell Homeostasis and Altered Vesicle Formation in Patients With Paroxysmal Nocturnal Hemoglobinuria.Frontiers in physiology · 2019Article
- Disturbed Red Blood Cell Structure and Function: An Exploration of the Role of Red Blood Cells in Neurodegeneration.Frontiers in medicine · 2018Article
- Oxidative Stress in Autistic Children Alters Erythrocyte Shape in the Absence of Quantitative Protein Alterations and of Loss of Membrane Phospholipid Asymmetry.Oxidative medicine and cellular longevity · 2018Article
- A new molecular link between defective autophagy and erythroid abnormalities in chorea-acanthocytosis.Blood · 2016Article
- The Proteome of the Red Blood Cell: An Auspicious Source of New Insights into Membrane-Centered Regulation of Homeostasis.Proteomes · 2016Review
- Red Blood Cell Homeostasis: Pharmacological Interventions to Explore Biochemical, Morphological and Mechanical Properties.Frontiers in molecular biosciences · 2016Article
- Neuroacanthocytosis: Observations, Theories and Perspectives on the Origin and Significance of Acanthocytes.Tremor and other hyperkinetic movements (New York, N.Y.) · 2015Review
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Authors and funding
9 authors at 5 institutions in 4 countries.
Funding
Abstract
backgroundPanthothenate kinase-associated neurodegeneration (PKAN) belongs to a group of hereditary neurodegenerative disorders known as neuroacanthocytosis (NA). This genetically heterogeneous group of diseases is characterized by degeneration of neurons in the basal ganglia and by the presence of deformed red blood cells with thorny protrusions, acanthocytes, in the circulation.
objectiveThe goal of our study is to elucidate the molecular mechanisms underlying this aberrant red cell morphology and the corresponding functional consequences. This could shed light on the etiology of the neurodegeneration.
methodsWe performed a qualitative and semi-quantitative morphological, immunofluorescent, biochemical and functional analysis of the red cells of several patients with PKAN and, for the first time, of the red cells of their family members.
resultsWe show that the blood of patients with PKAN contains not only variable numbers of acanthocytes, but also a wide range of other misshapen red cells. Immunofluorescent and immunoblot analyses suggest an altered membrane organization, rather than quantitative changes in protein expression. Strikingly, these changes are not limited to the red blood cells of PKAN patients, but are also present in the red cells of heterozygous carriers without neurological problems. Furthermore, changes are not only present in acanthocytes, but also in other red cells, including discocytes. The patients' cells, however, are more fragile, as observed in a spleen-mimicking device.
conclusionThese morphological, molecular and functional characteristics of red cells in patients with PKAN and their family members offer new tools for diagnosis and present a window into the pathophysiology of neuroacanthocytosis.
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