Manuel Mattheisen

Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  • Yildiz Yildiz
  • ,
  • Per Hoffmann
  • ,
  • Stefan Vom Dahl
  • ,
  • Bernadette Breiden
  • ,
  • Roger Sandhoff
  • ,
  • Claus Niederau
  • ,
  • Mia Horwitz
  • ,
  • Stefan Karlsson
  • ,
  • Mirella Filacamo
  • ,
  • Deborah Elstein
  • ,
  • Michael Beck
  • ,
  • Konrad Sandhoff
  • ,
  • Eugen Mengel
  • ,
  • Maria C Gonzalez
  • ,
  • Markus M Nöthen
  • ,
  • Ellen Sidransky
  • ,
  • Ari Zimran
  • ,
  • Manuel Mattheisen
Gaucher disease (GD) is the most common inherited lysosomal storage disorder in humans, caused by mutations in the gene encoding the lysosomal enzyme glucocerebrosidase (GBA1). GD is clinically heterogeneous and although the type of GBA1 mutation plays a role in determining the type of GD, it does not explain the clinical variability seen among patients. Cumulative evidence from recent studies suggests that GBA2 could play a role in the pathogenesis of GD and potentially interacts with GBA1.
Original languageEnglish
JournalOrphanet Journal of Rare Diseases
Volume8
Issue1
Pages (from-to)151
ISSN1750-1172
DOIs
Publication statusPublished - 2014

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