title: Abnormal expression of truncated CRMP-1 protein in the brain cortex of MPSIIIB mice.
abstract: Mucopolysaccharidosis IIIB is a lysosomal disease characterized by a severe neurological deterioration, the pathophysiological mechanisms of which are poorly understood. Recently FGF pathway was shown to be altered leading us to explore a downstream target involved in brain development: the collapsin response mediator protein-1 (CRMP-1). CRMP-1 transcript level was normal but a cleavage of CRMP-1 was observed with an abnormal expression of the truncated form until adult age. This truncated CRMP-1 protein could play a role in post-natal cortex maturation and be involved in neuronal alterations occurring in lysosomal diseases.
authors.affiliation: INSERM, U842, Université de Lyon, Lyon1, UMR-S842, Faculté de Médecine Laennec, Lyon F-69372, France. david.cheillan@chu-lyon.fr
authors.forename: David
authors.initials: D
authors.lastname: Cheillan
authors.forename: Céline
authors.initials: C
authors.lastname: Malleval
authors.forename: Jérôme
authors.initials: J
authors.lastname: Ausseil
authors.forename: Sandrine
authors.initials: S
authors.lastname: Vitry
authors.forename: Jean-Michel
authors.initials: JM
authors.lastname: Heard
authors.forename: Irène
authors.initials: I
authors.lastname: Maire
authors.forename: Jérôme
authors.initials: J
authors.lastname: Honnorat
authors.forename: Marie-Françoise
authors.initials: MF
authors.lastname: Belin
authors.forename: Monique
authors.initials: M
authors.lastname: Touret
mesh_terms: D000818:Animals; D002154:Calpain / Q000378:metabolism; D002540:Cerebral Cortex / Q000378:metabolism*; D005346:Fibroblast Growth Factors / Q000378:metabolism; D015870:Gene Expression; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D009084:Mucopolysaccharidosis III / Q000235:genetics* / Q000378:metabolism; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000378:metabolism; D010750:Phosphoproteins / Q000235:genetics* / Q000378:metabolism; D000098855:Collapsin Response Mediator Protein 1
chemical_list: D009419:Nerve Tissue Proteins; D010750:Phosphoproteins; D000098855:Collapsin Response Mediator Protein 1; D005346:Fibroblast Growth Factors; D002154:Calpain