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@ARTICLE{Moens:276275,
      author       = {Moens, Thomas G and Da Cruz, Sandrine and Neumann, Manuela
                      and Shelkovnikova, Tatyana A and Shneider, Neil A and Van
                      Den Bosch, Ludo},
      title        = {{A}myotrophic lateral sclerosis caused by {FUS} mutations:
                      advances with broad implications.},
      journal      = {The lancet},
      volume       = {24},
      number       = {2},
      issn         = {1474-4422},
      address      = {London},
      publisher    = {Lancet Publ. Group},
      reportid     = {DZNE-2025-00254},
      pages        = {166 - 178},
      year         = {2025},
      abstract     = {Autosomal dominant mutations in the gene encoding the DNA
                      and RNA binding protein FUS are a cause of amyotrophic
                      lateral sclerosis (ALS), and about $0·3-0·9\%$ of patients
                      with ALS are FUS mutation carriers. FUS-mutation-associated
                      ALS (FUS-ALS) is characterised by early onset and rapid
                      progression, compared with other forms of ALS. However,
                      different pathogenic mutations in FUS can result in markedly
                      different age at symptom onset and rate of disease
                      progression. Most FUS mutations disrupt its nuclear
                      localisation, leading to its cytoplasmic accumulation in the
                      CNS. FUS also forms inclusions in around $5\%$ of patients
                      with the related neurodegenerative condition frontotemporal
                      dementia. However, there are key differences between the two
                      diseases at the genetic and neuropathological level, which
                      suggest distinct pathogenic processes. Experimental models
                      have uncovered potential pathogenic mechanisms in FUS-ALS
                      and informed therapeutic strategies that are currently in
                      development, including the silencing of FUS expression using
                      an intrathecally administered antisense oligonucleotide.},
      subtyp        = {Review Article},
      keywords     = {Amyotrophic Lateral Sclerosis: genetics / Humans /
                      RNA-Binding Protein FUS: genetics / Mutation: genetics /
                      Animals / RNA-Binding Protein FUS (NLM Chemicals) / FUS
                      protein, human (NLM Chemicals)},
      cin          = {AG Neumann},
      ddc          = {610},
      cid          = {I:(DE-2719)1210003},
      pnm          = {352 - Disease Mechanisms (POF4-352)},
      pid          = {G:(DE-HGF)POF4-352},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:39862884},
      doi          = {10.1016/S1474-4422(24)00517-9},
      url          = {https://pub.dzne.de/record/276275},
}