Repository logo

Infoscience

  • English
  • French
Log In
Logo EPFL, École polytechnique fédérale de Lausanne

Infoscience

  • English
  • French
Log In
  1. Home
  2. Academic and Research Output
  3. Journal articles
  4. Dependence of reversibility and progression of mouse neuronopathic Gaucher disease on acid beta-glucosidase residual activity levels
 
research article

Dependence of reversibility and progression of mouse neuronopathic Gaucher disease on acid beta-glucosidase residual activity levels

Xu, Y.H.
•
Reboulet, R.
•
Quinn, B.
Show more
2008
Molecular genetics and metabolism

Genetic and chemically induced neuronopathic mouse models of Gaucher disease were developed to facilitate understanding of the reversibility and/or progression of CNS involvement. The lethality of the skin permeability barrier defect of the complete gene knock out [gba, (glucocerebrosidase) GCase] was avoided by conditional reactivation of a low activity allele (D409H) in keratinocytes (kn-9H). In kn-9H mice, progressive CNS disease and massive glucosylceramide storage in tissues led to death from CNS involvement by the age of 14 days. Conduritol B epoxide (CBE, a covalent inhibitor of GCase) treatment (for 8-12 days) of wild type, D409H, D409V or V394L homozygotes recapitulated the CNS phenotype of the kn- 9H mice with seizures, tail arching, shaking, tremor, quadriparesis, extensive neuronal degeneration loss and apoptosis, and death by the age of 14 days. Minor CNS abnormalities occurred after daily CBE injections of 100mg/kg/day for 6 doses, but neuronal degeneration was progressive and glucosylceramide storage persisted in D409V homozygotes in the 2 to 5 months after CBE cessation; wild type and D409H mice had persistent neurological damage without progression. The persistent CNS deterioration, histologic abnormalities, and glucosylceramide storage in the CBE-treated D409V mice revealed a threshold level of GCase activity necessary for the prevention of progression of CNS involvement

  • Details
  • Metrics
Type
research article
DOI
10.1016/j.ymgme.2008.01.013
Web of Science ID

WOS:000256371900009

Author(s)
Xu, Y.H.
Reboulet, R.
Quinn, B.
Huelsken, J.  orcid-logo
Witte, D.
Grabowski, G. A.
Date Issued

2008

Published in
Molecular genetics and metabolism
Volume

94

Issue

2

Start page

190

End page

203

Note

Author address: The Divisions of Human Genetics, Cincinnati Children’s Hospital Medical Center, 3333 Burnet Avenue, MLC 4006, Cincinnati, OH 45229-3039, USA

Editorial or Peer reviewed

REVIEWED

Written at

EPFL

EPFL units
UPHUELSKEN  
Available on Infoscience
March 31, 2008
Use this identifier to reference this record
https://infoscience.epfl.ch/handle/20.500.14299/20272
Logo EPFL, École polytechnique fédérale de Lausanne
  • Contact
  • infoscience@epfl.ch

  • Follow us on Facebook
  • Follow us on Instagram
  • Follow us on LinkedIn
  • Follow us on X
  • Follow us on Youtube
AccessibilityLegal noticePrivacy policyCookie settingsEnd User AgreementGet helpFeedback

Infoscience is a service managed and provided by the Library and IT Services of EPFL. © EPFL, tous droits réservés