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@ARTICLE{Mueller:257569,
      author       = {Mueller, Sarah and Decker, Lorena and Menge, Sonja and
                      Ludolph, Albert C and Freischmidt, Axel-Dieter},
      title        = {{T}he {F}ragile {X} {P}rotein {F}amily in {A}myotrophic
                      {L}ateral {S}clerosis.},
      journal      = {Molecular neurobiology},
      volume       = {60},
      number       = {7},
      issn         = {0893-7648},
      address      = {Totowa, NJ},
      publisher    = {Humana Press},
      reportid     = {DZNE-2023-00449},
      pages        = {3898-3910},
      year         = {2023},
      abstract     = {The fragile X protein (FXP) family comprises the
                      multifunctional RNA-binding proteins FMR1, FXR1, and FXR2
                      that play an important role in RNA metabolism and regulation
                      of translation, but also in DNA damage and cellular stress
                      responses, mitochondrial organization, and more. FMR1 is
                      well known for its implication in neurodevelopmental
                      diseases. Recent evidence suggests substantial contribution
                      of this protein family to amyotrophic lateral sclerosis
                      (ALS) pathogenesis. ALS is a highly heterogeneous
                      neurodegenerative disease with multiple genetic and unclear
                      environmental causes and very limited treatment options. The
                      loss of motoneurons in ALS is still poorly understood,
                      especially because pathogenic mechanisms are often
                      restricted to patients with mutations in specific causative
                      genes. Identification of converging disease mechanisms
                      evident in most patients and suitable for therapeutic
                      intervention is therefore of high importance. Recently,
                      deregulation of the FXPs has been linked to pathogenic
                      processes in different types of ALS. Strikingly, in many
                      cases, available data points towards loss of expression
                      and/or function of the FXPs early in the disease, or even at
                      the presymptomatic state. In this review, we briefly
                      introduce the FXPs and summarize available data about these
                      proteins in ALS. This includes their relation to TDP-43,
                      FUS, and ALS-related miRNAs, as well as their possible
                      contribution to pathogenic protein aggregation and defective
                      RNA editing. Furthermore, open questions that need to be
                      addressed before definitively judging suitability of these
                      proteins as novel therapeutic targets are discussed.},
      subtyp        = {Review Article},
      keywords     = {Humans / Amyotrophic Lateral Sclerosis: genetics /
                      Amyotrophic Lateral Sclerosis: metabolism /
                      Neurodegenerative Diseases: genetics / RNA-Binding Proteins:
                      genetics / Motor Neurons: metabolism / DNA Damage /
                      RNA-Binding Protein FUS: genetics / Fragile X Mental
                      Retardation Protein: genetics / Amyotrophic lateral
                      sclerosis ALS (Other) / Amyotrophic lateral sclerosis ALS
                      (Other) / Amyotrophic lateral sclerosis ALS (Other) / FMR1
                      FMRP (Other) / FXR1 FXR1P (Other) / FXR2 FXR2P (Other) /
                      Neurodegenerative disease (Other) / Protein aggregation
                      (Other) / RNA-Binding Proteins (NLM Chemicals) / RNA-Binding
                      Protein FUS (NLM Chemicals) / FXR1 protein, human (NLM
                      Chemicals) / FMR1 protein, human (NLM Chemicals) / Fragile X
                      Mental Retardation Protein (NLM Chemicals)},
      cin          = {Clinical Study Center ; Clinical Study Center Ulm},
      ddc          = {570},
      cid          = {I:(DE-2719)5000077},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pmc          = {pmc:PMC10224833},
      pubmed       = {pmid:36991279},
      doi          = {10.1007/s12035-023-03330-x},
      url          = {https://pub.dzne.de/record/257569},
}