title: Gain of glycosylation: a new pathomechanism of myelin protein zero mutations.
abstract: We report the first case of a missense mutation in MPZ causing a gain of glycosylation in myelin protein zero, the main protein of peripheral nervous system myelin. The patient was affected by a severe demyelinating neuropathy caused by a missense mutation, D32N, that created a new glycosylation sequence. We confirmed that the mutant protein is hyperglycosylated, is partially retained into the Golgi apparatus in vitro, and disrupts intercellular adhesion. By sequential experiments, we demonstrated that hyperglycosylation is the main mechanism of this mutation. Gain of glycosylation is a new mechanism in Charcot-Marie-Tooth type 1B.
authors.affiliation: Department of Neurosciences, Ophthalmology, and Genetics, University of Genoa, Genoa, Italy.
authors.forename: Valeria
authors.initials: V
authors.lastname: Prada
authors.forename: Mario
authors.initials: M
authors.lastname: Passalacqua
authors.forename: Maria
authors.initials: M
authors.lastname: Bono
authors.forename: Paola
authors.initials: P
authors.lastname: Luzzi
authors.forename: Sara
authors.initials: S
authors.lastname: Scazzola
authors.forename: Lucilla Alessandra
authors.initials: LA
authors.lastname: Nobbio
authors.forename: Simona
authors.initials: S
authors.lastname: Capponi
authors.forename: Emilia
authors.initials: E
authors.lastname: Bellone
authors.forename: Paola
authors.initials: P
authors.lastname: Mandich
authors.forename: Gianluigi
authors.initials: G
authors.lastname: Mancardi
authors.forename: Michael
authors.initials: M
authors.lastname: Shy
authors.forename: Angelo
authors.initials: A
authors.lastname: Schenone
authors.forename: Marina
authors.initials: M
authors.lastname: Grandis
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D005260:Female; D006031:Glycosylation; D006801:Humans; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D018993:Myelin P0 Protein / Q000235:genetics* / Q000378:metabolism
chemical_list: D018993:Myelin P0 Protein