[Neutral lipid storage diseases and ATGL (adipose triglyceride lipase) and CGI-58/ABHD5 (alpha-beta hydrolase domain-containing 5) deficiency: myopathy, ichthyosis, but no obesity]

Med Sci (Paris). 2007 Jun-Jul;23(6-7):575-8. doi: 10.1051/medsci/20072367575.
[Article in French]
No abstract available

MeSH terms

  • 1-Acylglycerol-3-Phosphate O-Acyltransferase
  • Adipose Tissue / enzymology
  • Esterases / deficiency*
  • Esterases / genetics
  • Humans
  • Ichthyosis / etiology*
  • Lipase / deficiency*
  • Lipase / genetics
  • Lipid Metabolism, Inborn Errors / complications
  • Lipid Metabolism, Inborn Errors / enzymology
  • Lipid Metabolism, Inborn Errors / pathology*
  • Models, Biological
  • Obesity
  • Phospholipases A / chemistry
  • Phospholipases A / deficiency
  • Phospholipases A / genetics
  • Triglycerides / metabolism

Substances

  • Triglycerides
  • 1-Acylglycerol-3-Phosphate O-Acyltransferase
  • ABHD5 protein, human
  • Esterases
  • Lipase
  • PNPLA2 protein, human
  • Phospholipases A