title: Red cell glucose phosphate isomerase (GPI): a molecular study of three novel mutations associated with hereditary nonspherocytic hemolytic anemia.
abstract: Molecular characteristics of red blood cell (RBC) glucose phosphate isomerase (GPI) deficiency are described in two Spanish patients with chronic nonspherocytic hemolytic anemia. One patient, with residual GPI activity in RBCs of around 7% (GPI-Catalonia), is homozygous for the missense mutation c.1648A>G (p.Lys550Glu) in exon 18. The other patient, with residual activity in RBCs of around 20% (GPI-Barcelona), was found to be a compound heterozygote for two different missense mutations: c.341A>T (p.Asp113Val) in exon 4 and c.663T>G (p.Asn220Lys) in exon 7. Molecular modeling using the human crystal structure of GPI as a model was performed to determine how these mutations could affect enzyme structure and function.
authors.affiliation: Unitat de Bioquímica, Departament de Ciéncies Fisiològiques I, Facultat de Medicina, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Universitat de Barcelona, Spain.
authors.forename: Ada
authors.initials: A
authors.lastname: Repiso
authors.forename: Baldomero
authors.initials: B
authors.lastname: Oliva
authors.forename: Joan-Lluis
authors.initials: JL
authors.lastname: Vives-Corrons
authors.forename: Ernest
authors.initials: E
authors.lastname: Beutler
authors.forename: José
authors.initials: J
authors.lastname: Carreras
authors.forename: Fernando
authors.initials: F
authors.lastname: Climent
mesh_terms: D000293:Adolescent; D000328:Adult; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000235:genetics*; D003460:Crystallization; D004252:DNA Mutational Analysis; D019281:Dimerization; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D005956:Glucose-6-Phosphate Isomerase / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D008958:Models, Molecular; D020125:Mutation, Missense; D013329:Structure-Activity Relationship
chemical_list: D005956:Glucose-6-Phosphate Isomerase