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Genetic modifiers ameliorate endocytic and neuromuscular defects in a model of spinal muscular atrophy.

Melissa B Walsh | Eva Janzen | Emily Wingrove | Seyyedmohsen Hosseinibarkooie | Natalia Rodriguez Muela | Lance Davidow | Maria Dimitriadi | Erika M Norabuena | Lee L Rubin | Brunhilde Wirth | Anne C Hart
BMC biology | 2020

Understanding the genetic modifiers of neurodegenerative diseases can provide insight into the mechanisms underlying these disorders. Here, we examine the relationship between the motor neuron disease spinal muscular atrophy (SMA), which is caused by reduced levels of the survival of motor neuron (SMN) protein, and the actin-bundling protein Plastin 3 (PLS3). Increased PLS3 levels suppress symptoms in a subset of SMA patients and ameliorate defects in SMA disease models, but the functional connection between PLS3 and SMN is poorly understood.

Pubmed ID: 32938453

Research resources used in this publication

None found

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Associated grants

  • Agency: ODCDC CDC HHS, United States
    Id: P40 OD010440
  • Agency: NINDS NIH HHS, United States
    Id: P01 N5066888
  • Agency: Deutsche Forschungsgemeinschaft, International
    Id: WI-945/16-1
  • Agency: Center for Molecular Medicine Cologne, International
    Id: C16
  • Agency: Deutsche Forschungsgemeinschaft , International
    Id: WI 945/17-1
  • Agency: Deutsche Forschungsgemeinschaft , International
    Id: WI-945/18-1
  • Agency: Deutsche Forschungsgemeinschaft , International
    Id: RTG 1960

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