Communications Biology (Jul 2022)

Mitochondria dysfunction in Charcot Marie Tooth 2B Peripheral Sensory Neuropathy

  • Yingli Gu,
  • Flora Guerra,
  • Mingzheng Hu,
  • Alexander Pope,
  • Kijung Sung,
  • Wanlin Yang,
  • Simone Jetha,
  • Thomas A. Shoff,
  • Tessanya Gunatilake,
  • Owen Dahlkamp,
  • Linda Zhixia Shi,
  • Fiore Manganelli,
  • Maria Nolano,
  • Yue Zhou,
  • Jianqing Ding,
  • Cecilia Bucci,
  • Chengbiao Wu

DOI
https://doi.org/10.1038/s42003-022-03632-1
Journal volume & issue
Vol. 5, no. 1
pp. 1 – 17

Abstract

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The Rab7V162M mutation associated with Charcot Marie Tooth 2B peripheral neuropathy causes mitochondrial fragmentation in patient-derived fibroblasts and primary cultured dorsal root ganglion sensory neurons from E18 mouse embryos.