% IMPORTANT: The following is UTF-8 encoded.  This means that in the presence
% of non-ASCII characters, it will not work with BibTeX 0.99 or older.
% Instead, you should use an up-to-date BibTeX implementation like “bibtex8” or
% “biber”.

@ARTICLE{Heger:282916,
      author       = {Heger, Leonie and Kertess, Leonie and Kaufhold, Clara
                      Margarete and Gubinelli, Francesco and Cardona-Alberich,
                      Aida and Özata, Gamze and Müller, Stephan A and Tschirner,
                      Sarah K and Stehling, Oliver and Schifferer, Martina and
                      Peron, Camille and Tiranti, Valeria and Lill, Roland and
                      Iuso, Arcangela and Zecca, Luigi and Strupp, Michael and
                      Oertel, Wolfgang and Lichtenthaler, Stefan F and Burbulla,
                      Lena F.},
      title        = {{P}atient-{D}erived {N}eurons {E}xhibit α-{S}ynuclein
                      {P}athology and {P}reviously {U}nrecognized {M}ajor
                      {H}istocompatibility {C}omplex {C}lass {I} {E}levation in
                      {M}itochondrial {M}embrane {P}rotein-{A}ssociated
                      {N}eurodegeneration.},
      journal      = {Movement disorders},
      volume       = {40},
      number       = {12},
      issn         = {0885-3185},
      address      = {New York, NY},
      publisher    = {Wiley},
      reportid     = {DZNE-2025-01377},
      pages        = {2811 - 2818},
      year         = {2025},
      abstract     = {Mitochondrial membrane protein-associated neurodegeneration
                      (MPAN) from the neurodegeneration with brain iron
                      accumulation (NBIA) family is a rare neurodegenerative
                      disease marked by α-synuclein aggregation, brain iron
                      accumulation, and midbrain dopaminergic neuron
                      degeneration.The mechanisms driving neuron vulnerability
                      remain unclear. Our study aimed to develop a patient-derived
                      disease model replicating key pathologies of patient
                      brains.We generated induced pluripotent stem cell-derived
                      midbrain dopaminergic neurons from MPAN patients and
                      examined ultrastructural and biochemical markers of
                      pathology.MPAN patient neurons displayed α-synuclein
                      aggregation, axonal swellings, iron accumulation, and severe
                      membrane destruction. In addition, levels of the major
                      histocompatibility complex class I (MHC-I), linked to
                      cellular stress and neurodegenerative processes, were
                      elevated in patient neurons. Treatment with acetyl-leucine,
                      a potentially neuroprotective compound, decreased MHC-I.This
                      first patient-derived neuronal model of MPAN provides a
                      useful tool for further research aimed at unraveling the
                      complexities of this disease and developing potential
                      therapeutic interventions. © 2025 The Author(s). Movement
                      Disorders published by Wiley Periodicals LLC on behalf of
                      International Parkinson and Movement Disorder Society.},
      keywords     = {MPAN (Other) / NBIA (Other) / dopaminergic neurons (Other)
                      / iPSC disease modeling (Other) / α‐synuclein (Other)},
      cin          = {AG Burbulla / AG Lichtenthaler / AG Misgeld},
      ddc          = {610},
      cid          = {I:(DE-2719)5000074 / I:(DE-2719)1110006 /
                      I:(DE-2719)1110000-4},
      pnm          = {352 - Disease Mechanisms (POF4-352) / 351 - Brain Function
                      (POF4-351)},
      pid          = {G:(DE-HGF)POF4-352 / G:(DE-HGF)POF4-351},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40948186},
      doi          = {10.1002/mds.70029},
      url          = {https://pub.dzne.de/record/282916},
}