title: Correction of the galactocerebrosidase deficiency in globoid cell leukodystrophy-cultured cells by SL3-3 retroviral-mediated gene transfer.
abstract: Globoid cell leukodystrophy (GCL) or Krabbe disease is an autosomal recessive inherited disease caused by the deficiency of galactocerebrosidase, the lysosomal enzyme responsible for the degradation of galactocerebroside, a major component of myelin. An animal model homologue of GCL is the twitcher mouse. In the present work, using novel recombinant retroviruses harboring the SL3-3 LTR, we have been able to stably correct the galactocerebrosidase deficiency in twitcher mouse TM-2 cells and in primary human fibroblasts from a patient with globoid cell leukodystrophy. These results show the possibility of retroviral-mediated gene therapy for the treatment of GCL.
authors.affiliation: Department of Neurology, New York University School of Medicine, New York 10016, USA.
authors.forename: M A
authors.initials: MA
authors.lastname: Gama Sosa
authors.forename: R
authors.initials: R
authors.lastname: de Gasperi
authors.forename: S
authors.initials: S
authors.lastname: Undevia
authors.forename: J
authors.initials: J
authors.lastname: Yeretsian
authors.forename: S C
authors.initials: SC
authors.lastname: Rouse
authors.forename: T A
authors.initials: TA
authors.lastname: Lyerla
authors.forename: E H
authors.initials: EH
authors.lastname: Kolodny
mesh_terms: D000818:Animals; D002460:Cell Line; D002522:Chlorocebus aethiops; D005698:Galactosylceramidase / Q000172:deficiency*; D018014:Gene Transfer Techniques; D015316:Genetic Therapy; D005822:Genetic Vectors; D006801:Humans; D007965:Leukodystrophy, Globoid Cell / Q000201:enzymology* / Q000235:genetics / Q000628:therapy; D051379:Mice
chemical_list: D005698:Galactosylceramidase