Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2000059 | Molecular Genetics and Metabolism | 2008 | 4 Pages |
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.
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Authors
David Cheillan, Céline Malleval, Jérôme Ausseil, Sandrine Vitry, Jean-Michel Heard, Irène Maire, Jérôme Honnorat, Marie-Françoise Belin, Monique Touret,