Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models

Minela Haskovic, Ana I. Coelho, Jorgen Bierau, Jo M. Vanoevelen, Laura K. M. Steinbusch, Luc J. I. Zimmermann, Eduardo Villamor-Martinez, Gerard T. Berry, M. Estela Rubio-Gozalbo*

*Corresponding author for this work

Research output: Contribution to journalReview articleAcademicpeer-review

Original languageEnglish
Pages (from-to)392-408
Number of pages17
JournalJournal of Inherited Metabolic Disease
Volume43
Issue number3
DOIs
Publication statusPublished - May 2020

Keywords

  • animal models
  • cellular models
  • hereditary galactosemia
  • pathophysiology
  • treatment targets
  • DROSOPHILA-MELANOGASTER MODEL
  • UNFOLDED PROTEIN RESPONSE
  • PHOSPHATE URIDYLYLTRANSFERASE GALT
  • URIDINE-DIPHOSPHATE GALACTOSE
  • PI3K/AKT SIGNALING PATHWAY
  • CULTURED SKIN FIBROBLASTS
  • SUGAR NUCLEOTIDE LEVELS
  • CLASSIC GALACTOSEMIA
  • MOUSE MODEL
  • DEFECTIVE GALACTOSYLATION

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