ArticleActa neuropathologica communications2021
Therapeutic targeting of Lyn kinase to treat chorea-acanthocytosis.
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Article in Acta neuropathologica communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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25citing papers in PubMed
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25 citing papers in PubMed, 33 citations in OpenAlex.
- Article
- Four subtypes of disease-causing missense mutations underlie pathogenic protein interactions in neurodegenerative VPS13A disease.The Journal of clinical investigation · 2026Article
- Targeting of kinases to treat neurodegenerative diseases.Pharmacological reviews · 2026Review
- 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
- Chorea-acanthocytosis masquerading as a progressive seizure disorder with apparent early immunotherapy responsiveness.BMJ neurology open · 2026Article
- Regulation of hepatic organic anion transporting polypeptide 1B-type transport function by the protein kinase LYN.Drug metabolism and disposition: the biological fate of chemicals · 2025Article
- Impaired hematopoiesis and embryonic lethality at midgestation of mice lacking both lipid transfer proteins VPS13A and VPS13C.PLoS biology · 2025Article
- Premature skeletal muscle aging in VPS13A deficiency relates to impaired autophagy.Acta neuropathologica communications · 2025Article
- Experimental and clinical tests of FDA-approved kinase inhibitors for the treatment of neurological disorders (update 2024).Exploration of drug science · 2025Article
- Red blood cell lipid distribution in the pathophysiology and laboratory evaluation of chorea-acanthocytosis and McLeod syndrome patients.Frontiers in physiology · 2025Article
- Physiological and Pathogenesis Significance of Chorein in Health and Disease.Physiological research · 2024Review
- Exploring the pathophysiological mechanisms and wet biomarkers ofFrontiers in neurology · 2024Review
- 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
- Duality of Nrf2 in iron-overload cardiomyopathy.Haematologica · 2023Article
- FDA-Approved Kinase Inhibitors in Preclinical and Clinical Trials for Neurological Disorders.Pharmaceuticals (Basel, Switzerland) · 2022Review
- A partnership between the lipid scramblase XK and the lipid transfer protein VPS13A at the plasma membrane.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Yeast as a Model to Find New Drugs and Drug Targets forInternational journal of molecular sciences · 2022Review
- XK-Associated McLeod Syndrome: Nonhematological Manifestations and Relation to VPS13A Disease.Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie · 2022Review
- Changes in Blood Cell Deformability in Chorea-Acanthocytosis and Effects of Treatment With Dasatinib or Lithium.Frontiers in physiology · 2022Article
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Authors and funding
37 authors at 11 institutions in 3 countries.
Kevin Peikert *Translational Neurodegeneration Section "Albrecht-Kossel", Department of Neurology, University Medical Center Rostock, University of Rostock, Gehlsheimer Straße 20, 18147, Rostock, Germany.
Enrica Federti *Department of Medicine, University of Verona, Policlinico GB Rossi, P.Le L. Scuro, 10, 37134, Verona, Italy.
Alessandro MatteDepartment of Medicine, University of Verona, Policlinico GB Rossi, P.Le L. Scuro, 10, 37134, Verona, Italy.
Gabriela ConstantinDepartment of Medicine, University of Verona, Policlinico GB Rossi, P.Le L. Scuro, 10, 37134, Verona, Italy.
Enrica Caterina PietronigroDepartment of Medicine, University of Verona, Policlinico GB Rossi, P.Le L. Scuro, 10, 37134, Verona, Italy.
Paolo Francesco FabeneDepartment of Neuroscience, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.
Paola DefilippiDepartment of Biotecnologie Molecolari E Scienze Per La Salute, University of Torino, Turin, Italy.
Emilia TurcoDepartment of Biotecnologie Molecolari E Scienze Per La Salute, University of Torino, Turin, Italy.
Federico Del GalloDepartment of Neuroscience, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.
Pietro PucciDepartment of Chemical Sciences, University Federico II of Napoli, Naples, Italy.
Angela AmoresanoDepartment of Chemical Sciences, University Federico II of Napoli, Naples, Italy.
Anna IllianoDepartment of Chemical Sciences, University Federico II of Napoli, Naples, Italy.
Flora CozzolinoDepartment of Chemical Sciences, University Federico II of Napoli, Naples, Italy.
Maria MontiDepartment of Chemical Sciences, University Federico II of Napoli, Naples, Italy.
Francesca GarelloMolecular Imaging Center - Department of Molecular Biotechnology and Health Sciences, University of Torino, Turin, Italy.
Enzo TerrenoMolecular Imaging Center - Department of Molecular Biotechnology and Health Sciences, University of Torino, Turin, Italy.
Seth Leo AlperDivision of Nephrology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA.
Hannes GlaßTranslational Neurodegeneration Section "Albrecht-Kossel", Department of Neurology, University Medical Center Rostock, University of Rostock, Gehlsheimer Straße 20, 18147, Rostock, Germany.
Lisann PelzlDepartment of Physiology I, Eberhard Karl University, Tübingen, Germany.
Katja AkgünDepartment of Neurology, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Tjalf ZiemssenDepartment of Neurology, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Rainer OrdemannMedical Department I, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Florian LangDepartment of Physiology I, Eberhard Karl University, Tübingen, Germany.
Anna Maria BrunatiDepartment of Molecular Medicine, University of Padua, Padua, Italy.
Elena TibaldiDepartment of Molecular Medicine, University of Padua, Padua, Italy.
Immacolata AndolfoDepartment of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy.
Achille IolasconDepartment of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy.
Giuseppe BertiniDepartment of Neuroscience, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.
Mario BuffelliDepartment of Neuroscience, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.
Carlo ZancanaroDepartment of Neuroscience, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.
Erika LorenzettoDepartment of Neuroscience, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.
Angela SicilianoDepartment of Medicine, University of Verona, Policlinico GB Rossi, P.Le L. Scuro, 10, 37134, Verona, Italy.
Massimiliano BonifacioDepartment of Medicine, University of Verona, Policlinico GB Rossi, P.Le L. Scuro, 10, 37134, Verona, Italy.
Adrian DanekDepartment of Neurology, Ludwig Maximilians University of Munich, Munich, Germany.
Ruth Helen WalkerDepartment of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx, NY, USA.
Andreas Hermann *Translational Neurodegeneration Section "Albrecht-Kossel", Department of Neurology, University Medical Center Rostock, University of Rostock, Gehlsheimer Straße 20, 18147, Rostock, Germany. Andreas.Hermann@med.uni-rostock.de.
Lucia De Franceschi *Department of Medicine, University of Verona, Policlinico GB Rossi, P.Le L. Scuro, 10, 37134, Verona, Italy. lucia.defranceschi@univr.it.ORCID 0000-0001-7093-777X
University of Verona · ITCeinge Biotecnologie Avanzate (Italy) · ITUniversity of Turin · ITUniversity Hospital Carl Gustav Carus · DEUniversity of Rostock · DEUniversity of Naples Federico II · ITUniversity of Padua · ITUniversity of Tübingen · DEBeth Israel Deaconess Medical Center · USJames J. Peters VA Medical Center · USLudwig-Maximilians-Universität München · DE
Funding
No grant is acknowledged in the PubMed record.
Abstract
Chorea-Acanthocytosis (ChAc) is a devastating, little understood, and currently untreatable neurodegenerative disease caused by VPS13A mutations. Based on our recent demonstration that accumulation of activated Lyn tyrosine kinase is a key pathophysiological event in human ChAc cells, we took advantage of Vps13a
Indexed as
AnimalsDasatinibDrug Delivery SystemsFemaleMaleMiceMice, Inbred C57BLMice, KnockoutNeuroacanthocytosisProtein Kinase InhibitorsPyrimidinessrc-Family KinasesVesicular Transport ProteinsDasatiniblyn protein-tyrosine kinasenilotinibProtein Kinase InhibitorsPyrimidinessrc-Family KinasesVesicular Transport ProteinsVps13a protein, mouseBasal gangliaCell signalingChoreinLynNeurodegeneration
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