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@ARTICLE{Nalbach:255139,
      author       = {Nalbach, Karsten and Schifferer, Martina and Bhattacharya,
                      Debjani and Ho-Xuan, Hung and Tseng, Wei and Williams, Luis
                      A and Stolz, Alexandra and Lichtenthaler, Stefan F and
                      Elazar, Zvulun and Behrends, Christian},
      title        = {{S}patial proteomics reveals secretory pathway disturbances
                      caused by neuropathy-associated {TECPR}2.},
      journal      = {Nature Communications},
      volume       = {14},
      number       = {1},
      issn         = {2041-1723},
      address      = {[London]},
      publisher    = {Nature Publishing Group UK},
      reportid     = {DZNE-2023-00258},
      pages        = {870},
      year         = {2023},
      note         = {CC BY},
      abstract     = {Hereditary sensory and autonomic neuropathy 9 (HSAN9) is a
                      rare fatal neurological disease caused by mis- and nonsense
                      mutations in the gene encoding for Tectonin β-propeller
                      repeat containing protein 2 (TECPR2). While TECPR2 is
                      required for lysosomal consumption of autophagosomes and
                      ER-to-Golgi transport, it remains elusive how exactly TECPR2
                      is involved in autophagy and secretion and what downstream
                      sequels arise from defective TECPR2 due to its involvement
                      in these processes. To address these questions, we determine
                      molecular consequences of TECPR2 deficiency along the
                      secretory pathway. By employing spatial proteomics, we
                      describe pronounced changes with numerous proteins important
                      for neuronal function being affected in their intracellular
                      transport. Moreover, we provide evidence that TECPR2's
                      interaction with the early secretory pathway is not
                      restricted to COPII carriers. Collectively, our systematic
                      profiling of a HSAN9 cell model points to specific
                      trafficking and sorting defects which might precede
                      autophagy dysfunction upon TECPR2 deficiency.},
      keywords     = {Carrier Proteins: metabolism / Secretory Pathway /
                      Proteomics / Protein Transport / Autophagosomes / Autophagy:
                      genetics / Golgi Apparatus / Nerve Tissue Proteins:
                      metabolism / Carrier Proteins (NLM Chemicals) / Nerve Tissue
                      Proteins (NLM Chemicals)},
      cin          = {AG Misgeld / AG Lichtenthaler},
      ddc          = {500},
      cid          = {I:(DE-2719)1110000-4 / I:(DE-2719)1110006},
      pnm          = {351 - Brain Function (POF4-351) / 352 - Disease Mechanisms
                      (POF4-352)},
      pid          = {G:(DE-HGF)POF4-351 / G:(DE-HGF)POF4-352},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:36797266},
      pmc          = {pmc:PMC9935918},
      doi          = {10.1038/s41467-023-36553-6},
      url          = {https://pub.dzne.de/record/255139},
}