Endosomal recycling defects link Huntington's disease with McLeod syndrome

J Cell Biol. 2022 Oct 3;221(10):e202208164. doi: 10.1083/jcb.202208164. Epub 2022 Sep 16.

Abstract

Chhetri and colleagues (2022. J. Cell Biol.https://doi.org/10.1083/jcb.202112073) show that Rab11-mediated endosomal recycling regulates cell surface expression of McLeod syndrome protein XK. Mutant huntingtin interferes with the recycling of XK to the cell surface and significantly reduces manganese transport across cell membrane.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Comment

MeSH terms

  • Amino Acid Transport Systems, Neutral* / metabolism
  • Cell Membrane / metabolism
  • Endosomes* / metabolism
  • Humans
  • Huntington Disease* / complications
  • Manganese* / metabolism
  • Neuroacanthocytosis* / complications
  • rab GTP-Binding Proteins / metabolism

Substances

  • Amino Acid Transport Systems, Neutral
  • XK protein, human
  • Manganese
  • rab11 protein
  • rab GTP-Binding Proteins

Supplementary concepts

  • Neuroacanthocytosis, Mcleod Type