Functional studies of new gla gene mutations leading to conformational fabry disease

C. Filoni (1) , A. Caciotti (1) , L. Carraresi (1) , C. Cc Cavicchi (1) , R. Parini (2) , D. Antuzzi (3) , A. Zampetti (3) , S. Feriozzi (4) , P. Poisetti (5) , S.C. Garman , R. Guerrini , E. Zammarchi , M.A. Donati , A. Morrone

1 Clinic of Pediatric Neurology
2 San Gerardo Hospital of Monza
3 Catholic University Hospital “A. Gemelli”
4 Belcolle Hospital
5 Piacenza Hospital

Fabry Disease (FD) is an X-linked multisystemic lysosomal disorder caused by mutations of α-galactosidase ( gene. Only a few of the 450 genetic lesions identified so far have been characterised by in vitro expression studies. Thus the significance of newly identified nucleotide variants in FD patients which lead to α-galactosidase (GAL-A) amino acid substitutions or intronic changes can be uncertain.

Mots clés: Fabry disease; α-galactosidase; 1-deoxygalactonojirimicin; Chaperones; Fabry disease.

Domaines: Médecine humaine et pathologie

C. Filoni, A. Caciotti, L. Carraresi, C. Cc Cavicchi, R. Parini, et al.. Functional studies of new gla gene mutations leading to conformational fabry disease. Biochimica et Biophysica Acta - Molecular Basis of Disease, 2010, ⟨10.1016/j.bbadis.2009.11.003⟩. ⟨hal-00556270⟩