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@ARTICLE{Peikert:277726,
      author       = {Peikert, Kevin and Spranger, Adrian and
                      Miltenberger-Miltenyi, Gabriel and Glaß, Hannes and
                      Falkenburger, Björn and Klose, Christian and Tyteca,
                      Donatienne and Hermann, Andreas},
      title        = {{P}hosphatidylethanolamines are the {M}ain {L}ipid {C}lass
                      {A}ltered in {R}ed {B}lood {C}ells from {P}atients with
                      {VPS}13{A} {D}isease/{C}horea-{A}canthocytosis.},
      journal      = {Movement disorders},
      volume       = {40},
      number       = {3},
      issn         = {0885-3185},
      address      = {New York, NY},
      publisher    = {Wiley},
      reportid     = {DZNE-2025-00447},
      pages        = {544 - 549},
      year         = {2025},
      abstract     = {VPS13A disease is an ultra-rare disorder caused by loss of
                      function mutations in VPS13A characterized by striatal
                      degeneration and by red blood cell (RBC) acanthocytosis.
                      VPS13A is a bridge-like protein mediating lipid transfer at
                      membrane contact sites.To assess the lipid composition of
                      patient-derived RBCs.RBCs collected from 5 VPS13A disease
                      patients and 12 control subjects were analyzed by mass
                      spectrometry (lipidomics).While we found no significant
                      differences in the overall lipid class level, alterations in
                      certain species were detected: phosphatidylethanolamine
                      species with both longer chain length and higher
                      unsaturation were increased in VPS13A disease samples.
                      Specific ceramide, phosphatidylcholine, and sphingomyelin
                      species were also altered.The presented alterations of
                      particular lipid species in RBCs in VPS13A disease may
                      contribute to (1) the understanding of acanthocyte
                      formation, and (2) future biomarker identification. Lipid
                      distribution seems to play a key role in the pathophysiology
                      of VPS13A disease. © 2024 The Author(s). Movement Disorders
                      published by Wiley Periodicals LLC on behalf of
                      International Parkinson and Movement Disorder Society.},
      keywords     = {Humans / Neuroacanthocytosis: genetics /
                      Neuroacanthocytosis: metabolism / Neuroacanthocytosis: blood
                      / Neuroacanthocytosis: pathology /
                      Phosphatidylethanolamines: metabolism / Erythrocytes:
                      metabolism / Male / Vesicular Transport Proteins: genetics /
                      Vesicular Transport Proteins: metabolism / Female / Adult /
                      Middle Aged / Lipidomics: methods / Acanthocytes: metabolism
                      / Acanthocytes: pathology / VPS13A protein, human (NLM
                      Chemicals) / Phosphatidylethanolamines (NLM Chemicals) /
                      Vesicular Transport Proteins (NLM Chemicals)},
      cin          = {AG Hermann / AG Falkenburger},
      ddc          = {610},
      cid          = {I:(DE-2719)1511100 / I:(DE-2719)1710012},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:39665525},
      pmc          = {pmc:PMC11926492},
      doi          = {10.1002/mds.30086},
      url          = {https://pub.dzne.de/record/277726},
}