Journal article
Computational approach from gene to structure analysis of the human ABCA4 transporter involved in genetic retinal diseases
A Trezza, A Bernini, A Langella, DB Ascher, DEV Pires, A Sodi, I Passerini, E Pelo, S Rizzo, N Niccolai, O Spiga
Investigative Ophthalmology and Visual Science | ASSOC RESEARCH VISION OPHTHALMOLOGY INC | Published : 2017
Open access
Abstract
PURPOSE. The aim of this article is to report the investigation of the structural features of ABCA4, a protein associated with a genetic retinal disease. A new database collecting knowledge of ABCA4 structure may facilitate predictions about the possible functional consequences of gene mutations observed in clinical practice. METHODS. In order to correlate structural and functional effects of the observed mutations, the structure of mouse P-glycoprotein was used as a template for homology modeling. The obtained structural information and genetic data are the basis of our relational database (ABCA4Database). RESULTS. Sequence variability among all ABCA4-deposited entries was calculated and re..
View full abstractGrants
Awarded by Jack Brockhoff Foundation
Funding Acknowledgements
Supported by the Jack Brockhoff Foundation (JBF 4186) (DBA), a C.J. Martin Research Fellowship from the National Health and Medical Research Council of Australia (APP1072476) (DBA), the Rene Rachou Institute (IRR/FIOCRUZ Minas) (DEVP), Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq) (DEVP), and Fundacao de Amparo a Pesquisa do Estado de Minas Gerais (FAPEMIG) (DEVP).