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@ARTICLE{Sadikoglou:282293,
      author       = {Sadikoglou, Eldem and Domingo-Fernández, Daniel and
                      Savytska, Natalia and Fernandes, Noemia and Rizzu, Patrizia
                      and Illarionova, Anastasia and Strauß, Tabea and Schwarz,
                      Sigrid and Kodamullil, Alpha and Höglinger, Günter U and
                      Dhingra, Ashutosh and Gasser, Thomas and Heutink, Peter},
      title        = {{C}hr:17q21.31 locus risk haplotype {H}1 susceptibility to
                      ferroptosis is mediated by endolysosomal pathway.},
      journal      = {Cell death $\&$ disease},
      volume       = {16},
      number       = {1},
      issn         = {2041-4889},
      address      = {London [u.a.]},
      publisher    = {Nature Publishing Group},
      reportid     = {DZNE-2025-01263},
      pages        = {828},
      year         = {2025},
      abstract     = {Human chr:17q21.31 locus is a complex genomic region of
                      high linkage disequilibrium with two main haplotypes, named
                      H1 and H2. The H1 haplotype is genetically associated with a
                      wide spectrum of neurodegenerative diseases (NDs), including
                      tauopathies and synucleinopathies, with the underlying
                      mechanism remaining unknown. We investigated the interplay
                      of environmental and genetic risk factors on neurons derived
                      from iPSCs of both haplotypes under Mild Chronic Oxidative
                      Stress (MCOS) conditions. The observed increased
                      susceptibility of H1 neurons to MCOS leading to an earlier
                      neuronal death, was mediated by ferroptosis.
                      Characterization of the phenotype revealed spatiotemporal
                      propagation and spreading of axonal deterioration and
                      neuronal death in accordance with NDs pathology.
                      Transcriptional profiling pointed to ferroptosis hallmarks
                      and endo-lysosomal vesicles as implicated pathways, while
                      FDA-approved drugs prevented the induced death in H1
                      neurons. Finally, ROS and lysosomal dynamics during the
                      neuronal maturation shed further light to the differential
                      response of haplotypes to MCOS, which could explain the risk
                      association of the H1 haplotype with NDs.},
      keywords     = {Humans / Lysosomes: metabolism / Ferroptosis: genetics /
                      Haplotypes: genetics / Neurons: metabolism / Neurons:
                      pathology / Oxidative Stress / Genetic Predisposition to
                      Disease / Endosomes: metabolism / Induced Pluripotent Stem
                      Cells: metabolism / Reactive Oxygen Species: metabolism /
                      Neurodegenerative Diseases: genetics / Neurodegenerative
                      Diseases: pathology / Reactive Oxygen Species (NLM
                      Chemicals)},
      cin          = {AG Heutink / AG Bansal / AG Rizzu / ICRU / Clinical
                      Research (Munich) / AG Gasser},
      ddc          = {570},
      cid          = {I:(DE-2719)1210002 / I:(DE-2719)1210013 /
                      I:(DE-2719)1210009 / I:(DE-2719)1240005 / I:(DE-2719)1111015
                      / I:(DE-2719)1210000},
      pnm          = {354 - Disease Prevention and Healthy Aging (POF4-354) / 353
                      - Clinical and Health Care Research (POF4-353) / 899 - ohne
                      Topic (POF4-899)},
      pid          = {G:(DE-HGF)POF4-354 / G:(DE-HGF)POF4-353 /
                      G:(DE-HGF)POF4-899},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:41238560},
      pmc          = {pmc:PMC12618564},
      doi          = {10.1038/s41419-025-08147-1},
      url          = {https://pub.dzne.de/record/282293},
}