title: Ablating N-acetylaspartate prevents leukodystrophy in a Canavan disease model.
abstract: Canavan disease is caused by inactivating ASPA (aspartoacylase) mutations that prevent cleavage of N-acetyl-L-aspartate (NAA), resulting in marked elevations in central nervous system (CNS) NAA and progressively worsening leukodystrophy. We now report that ablating NAA synthesis by constitutive genetic disruption of Nat8l (N-acetyltransferase-8 like) permits normal CNS myelination and prevents leukodystrophy in a murine Canavan disease model.
authors.affiliation: Institute for Pediatric Regenerative Medicine, University of California, Davis School of Medicine and Shriners Hospitals for Children Northern California, Sacramento, CA.
authors.forename: Fuzheng
authors.initials: F
authors.lastname: Guo
authors.forename: Peter
authors.initials: P
authors.lastname: Bannerman
authors.forename: Emily
authors.initials: E
authors.lastname: Mills Ko
authors.forename: Laird
authors.initials: L
authors.lastname: Miers
authors.forename: Jie
authors.initials: J
authors.lastname: Xu
authors.forename: Travis
authors.initials: T
authors.lastname: Burns
authors.forename: Shuo
authors.initials: S
authors.lastname: Li
authors.forename: Ernest
authors.initials: E
authors.lastname: Freeman
authors.forename: Jennifer A
authors.initials: JA
authors.lastname: McDonough
authors.forename: David
authors.initials: D
authors.lastname: Pleasure
mesh_terms: D000818:Animals; D001224:Aspartic Acid / Q000031:analogs & derivatives* / Q000172:deficiency / Q000235:genetics / Q000378:metabolism; D017825:Canavan Disease / Q000235:genetics / Q000378:metabolism* / Q000517:prevention & control*; D004195:Disease Models, Animal; D005260:Female; D008297:Male; D051379:Mice; D018345:Mice, Knockout
chemical_list: D001224:Aspartic Acid; C000179:N-acetylaspartate