Communications Biology (Jun 2022)

GDAP1 loss of function inhibits the mitochondrial pyruvate dehydrogenase complex by altering the actin cytoskeleton

  • Christina Wolf,
  • Alireza Pouya,
  • Sara Bitar,
  • Annika Pfeiffer,
  • Diones Bueno,
  • Liliana Rojas-Charry,
  • Sabine Arndt,
  • David Gomez-Zepeda,
  • Stefan Tenzer,
  • Federica Dal Bello,
  • Caterina Vianello,
  • Sandra Ritz,
  • Jonas Schwirz,
  • Kristina Dobrindt,
  • Michael Peitz,
  • Eva-Maria Hanschmann,
  • Pauline Mencke,
  • Ibrahim Boussaad,
  • Marion Silies,
  • Oliver Brüstle,
  • Marta Giacomello,
  • Rejko Krüger,
  • Axel Methner

DOI
https://doi.org/10.1038/s42003-022-03487-6
Journal volume & issue
Vol. 5, no. 1
pp. 1 – 15

Abstract

Read online

GDAP1 mutations effect Charcot-Marie-Tooth disease 4A by inhibiting the pyruvate dehydrogenase complex and restricting mitochondrial localization of dynamin-related protein 1 through alterations of the actin cytoskeleton.