Nature Communications (Jun 2021)

Altered heparan sulfate metabolism during development triggers dopamine-dependent autistic-behaviours in models of lysosomal storage disorders

  • Maria De Risi,
  • Michele Tufano,
  • Filomena Grazia Alvino,
  • Maria Grazia Ferraro,
  • Giulia Torromino,
  • Ylenia Gigante,
  • Jlenia Monfregola,
  • Elena Marrocco,
  • Salvatore Pulcrano,
  • Lea Tunisi,
  • Claudia Lubrano,
  • Dulce Papy-Garcia,
  • Yaakov Tuchman,
  • Alberto Salleo,
  • Francesca Santoro,
  • Gian Carlo Bellenchi,
  • Luigia Cristino,
  • Andrea Ballabio,
  • Alessandro Fraldi,
  • Elvira De Leonibus

DOI
https://doi.org/10.1038/s41467-021-23903-5
Journal volume & issue
Vol. 12, no. 1
pp. 1 – 17

Abstract

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Lysosomal storage disorders, characterized by altered metabolism of heparan sulfate, cause autistic symptoms followed by dementia in children. Here, the authors show that embryonic dopaminergic neurodevelopmental defects due to altered function of heparan sulfate cause autistic behaviours in mice.