Accueil > Publications > Recherche par années > Années 1990 > 1998

Wei, LH ; Berman, Y ; Castano, EM ; Cadene, M ; Beavis, RC ; Devi, L ; Levy, E

Instability of the amyloidogenic cystatin C variant of hereditary cerebral hemorrhage with amyloidosis, Icelandic type

Journal of Biological Chemistry 273 (19) 11806-11814

par Administrateur - publié le

Abstract :

A cystatin C variant with L68Q substitution and a truncation of 10 NH2-terminal residues is the major constituent of the amyloid deposited in the cerebral vasculature of patients with the Icelandic form of hereditary cerebral hemorrhage with amyloidosis (HCHWA-I). Variant and wild type cystatin C production, processing, secretion, and clearance were studied in human cell lines stably overexpressing the cystatin C genes. Immunoblot and mass spectrometry analyses demonstrated monomeric cystatin C in cell homogenates and culture media.