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@ARTICLE{Freisem:281633,
      author       = {Freisem, Dennis and Hoenigsperger, Helene and Catanese,
                      Alberto and Sparrer, Konstantin},
      title        = {{I}nborn errors of canonical autophagy in neurodegenerative
                      diseases.},
      journal      = {Human molecular genetics},
      volume       = {34},
      number       = {R1},
      issn         = {0964-6906},
      address      = {Oxford},
      publisher    = {Oxford Univ. Press},
      reportid     = {DZNE-2025-01156},
      pages        = {R23 - R34},
      year         = {2025},
      abstract     = {Neurodegenerative disorders (NDDs), characterized by a
                      progressive loss of neurons and cognitive function, are a
                      severe burden to human health and mental fitness worldwide.
                      A hallmark of NDDs such as Alzheimer's disease, Huntington's
                      disease, Parkinson's disease (PD), amyotrophic lateral
                      sclerosis (ALS) and prion diseases is disturbed cellular
                      proteostasis, resulting in pathogenic deposition of
                      aggregated protein species. Autophagy is a major cellular
                      process maintaining proteostasis and integral to innate
                      immune defenses that mediates lysosomal protein turnover.
                      Defects in autophagy are thus frequently associated with
                      NDDs. In this review, we discuss the interplay between NDDs
                      associated proteins and autophagy and provide an overview
                      over recent discoveries in inborn errors in canonical
                      autophagy proteins that are associated with NDDs. While
                      mutations in autophagy receptors seems to be associated
                      mainly with the development of ALS, errors in mitophagy are
                      mainly found to promote PD. Finally, we argue whether
                      autophagy may impact progress and onset of the disease, as
                      well as the potential of targeting autophagy as a
                      therapeutic approach. Concludingly, understanding disorders
                      due to inborn errors in autophagy-'autophagopathies'-will
                      help to unravel underlying NDD pathomechanisms and provide
                      unique insights into the neuroprotective role of autophagy,
                      thus potentially paving the way for novel therapeutic
                      interventions.},
      subtyp        = {Review Article},
      keywords     = {Humans / Autophagy: genetics / Neurodegenerative Diseases:
                      genetics / Neurodegenerative Diseases: pathology /
                      Neurodegenerative Diseases: metabolism / Animals /
                      Mitophagy: genetics / Parkinson Disease: genetics /
                      Parkinson Disease: pathology / Mutation / Proteostasis:
                      genetics / Amyotrophic Lateral Sclerosis: genetics /
                      Amyotrophic Lateral Sclerosis: pathology / autophagy (Other)
                      / innate immunity (Other) / monogenic diseases (Other) /
                      neurodegenerative diseases (Other)},
      cin          = {AG Böckers},
      ddc          = {570},
      cid          = {I:(DE-2719)1910002},
      pnm          = {352 - Disease Mechanisms (POF4-352)},
      pid          = {G:(DE-HGF)POF4-352},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40304712},
      pmc          = {pmc:PMC12501978},
      doi          = {10.1093/hmg/ddae179},
      url          = {https://pub.dzne.de/record/281633},
}