Apolipoprotein E (APOE) is an important gene whose common polymorphism, and precisely the e*4 allele, has been reportedly associated with some disorders, including Alzheimer's disease (AD) and coronary artery disease. In the course of previous surveys on AD patients and healthy individuals some rare variants were detected by means of Isoelectric focusing and denaturing high-performance liquid chromatography techniques. After a mutation in a gene is identified, the problem arises to understand its effective significance. Structure modelling and phylogenetic analysis methods are widely used to establish the possible deleterious effect of mutations. In this study their usefulness in the analysis of APOE variants was evaluated. The two combined methods provided helpful indications for distinguishing between mutations possibly involved in AD susceptibility and not deleterious mutations.

Structural and phylogenetic approaches to assess the significance of human Apolipoprotein E (APOE) variation / Corbo, Rosa Maria; Prevost, M; Raussens, V; Gambina, G; Moretto, M; Scacchi, R.. - In: MOLECULAR GENETICS AND METABOLISM. - ISSN 1096-7192. - STAMPA. - 89:(2006), pp. 261-269. [10.1016/j.ymgme.2006.02.015]

Structural and phylogenetic approaches to assess the significance of human Apolipoprotein E (APOE) variation.

CORBO, Rosa Maria;
2006

Abstract

Apolipoprotein E (APOE) is an important gene whose common polymorphism, and precisely the e*4 allele, has been reportedly associated with some disorders, including Alzheimer's disease (AD) and coronary artery disease. In the course of previous surveys on AD patients and healthy individuals some rare variants were detected by means of Isoelectric focusing and denaturing high-performance liquid chromatography techniques. After a mutation in a gene is identified, the problem arises to understand its effective significance. Structure modelling and phylogenetic analysis methods are widely used to establish the possible deleterious effect of mutations. In this study their usefulness in the analysis of APOE variants was evaluated. The two combined methods provided helpful indications for distinguishing between mutations possibly involved in AD susceptibility and not deleterious mutations.
2006
01 Pubblicazione su rivista::01a Articolo in rivista
Structural and phylogenetic approaches to assess the significance of human Apolipoprotein E (APOE) variation / Corbo, Rosa Maria; Prevost, M; Raussens, V; Gambina, G; Moretto, M; Scacchi, R.. - In: MOLECULAR GENETICS AND METABOLISM. - ISSN 1096-7192. - STAMPA. - 89:(2006), pp. 261-269. [10.1016/j.ymgme.2006.02.015]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/98695
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