English   español  
Por favor, use este identificador para citar o enlazar a este item: http://hdl.handle.net/10261/112046
COMPARTIR / IMPACTO:
Estadísticas
logo share SHARE logo core CORE   Add this article to your Mendeley library MendeleyBASE

Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL
Exportar a otros formatos:
Título

Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity onset diabetes of the young (MODY2) patients

AutorEstalella, Itziar; García-Gimeno, María Adelaida ; Marina, Alberto ; Castaño, Luis; Sanz, Pascual
Palabras claveMODY2
Glucokinase
Inactivating mutation
Enzyme kinetics
Fecha de publicación6-mar-2008
EditorSpringer
CitaciónJournal of Human Genetics 53(5):460-6 (2008)
ResumenMODY2 (mature onset diabetes of the young, type2) is associated with mutations in the GCK gene that result in impaired glucokinase activity. Although more than 200 inactivating GCK mutations have been reported, only less than 20% of these mutations have been functionally characterized. In this work we describe the biochemical characterization of six missense glucokinase mutations associated to MODY2 from Spanish patients, namely Y61S, V182L, C233R, E265K, A379V and K420E. All these mutations produced enzymes that presented reduced enzymatic activity in various degrees, from a mild affectation (K420E) to a more severe effect (C233R). The severity of the mutation correlated with the importance of the structural changes introduced by the mutations. For example, the C233R affected a critical residue of the active centre of the enzyme and rendered a protein with undetectable enzymatic activity. These data add new information on the structure-function relationship of human glucokinase.
Descripción7 páginas, 2 figuras, 3 tablas.
Versión del editorhttp://dx.doi.org/10.1007/s10038-008-0271-5
URIhttp://hdl.handle.net/10261/112046
DOI10.1007/s10038-008-0271-5
ISSN1434-5161
E-ISSN1435-232X
Aparece en las colecciones: (IBV) Artículos
Ficheros en este ítem:
Fichero Descripción Tamaño Formato  
2008 J. Hum Genet 53-460.pdf171,48 kBAdobe PDFVista previa
Visualizar/Abrir
Mostrar el registro completo
 

Artículos relacionados:


NOTA: Los ítems de Digital.CSIC están protegidos por copyright, con todos los derechos reservados, a menos que se indique lo contrario.