Matches in SemOpenAlex for { <https://semopenalex.org/work/W3093472495> ?p ?o ?g. }
- W3093472495 endingPage "7606" @default.
- W3093472495 startingPage "7606" @default.
- W3093472495 abstract "The ATP-binding cassette transporter A1 (ABCA1) is a membrane-bound exporter protein involved in regulating serum HDL level by exporting cholesterol and phospholipids to load up in lipid-poor ApoA-I and ApoE, which allows the formation of nascent HDL. Mutations in the ABCA1 gene, when presents in both alleles, disrupt the canonical function of ABCA1, which associates with many disorders related to lipid transport. Although many studies have reported the phenotypic effects of a large number of ABCA1 variants, the pathological effect of non-synonymous polymorphisms (nsSNPs) in ABCA1 remains elusive. Therefore, aiming at exploring the structural and functional consequences of nsSNPs in ABCA1, in this study, we employed an integrated computational approach consisting of nine well-known in silico tools to identify damaging SNPs and molecular dynamics (MD) simulation to get insights into the magnitudes of the damaging effects. In silico tools revealed four nsSNPs as being most deleterious, where the two SNPs (G1050V and S1067C) are identified as the highly conserved and functional disrupting mutations located in the NBD1 domain. MD simulation suggested that both SNPs, G1050V and S1067C, changed the overall structural flexibility and dynamics of NBD1, and induced substantial alteration in the structural organization of ATP binding site. Taken together, these findings direct future studies to get more insights into the role of these variants in the loss of the ABCA1 function." @default.
- W3093472495 created "2020-10-22" @default.
- W3093472495 creator A5015743510 @default.
- W3093472495 creator A5033923498 @default.
- W3093472495 creator A5035851376 @default.
- W3093472495 creator A5039325021 @default.
- W3093472495 creator A5052083297 @default.
- W3093472495 creator A5067406841 @default.
- W3093472495 creator A5073507796 @default.
- W3093472495 creator A5085500023 @default.
- W3093472495 creator A5086415841 @default.
- W3093472495 date "2020-10-14" @default.
- W3093472495 modified "2023-10-11" @default.
- W3093472495 title "Computational SNP Analysis and Molecular Simulation Revealed the Most Deleterious Missense Variants in the NBD1 Domain of Human ABCA1 Transporter" @default.
- W3093472495 cites W1546212757 @default.
- W3093472495 cites W1555656521 @default.
- W3093472495 cites W1570388980 @default.
- W3093472495 cites W1571439191 @default.
- W3093472495 cites W1607399348 @default.
- W3093472495 cites W1798164203 @default.
- W3093472495 cites W1963514652 @default.
- W3093472495 cites W1965727556 @default.
- W3093472495 cites W1973035681 @default.
- W3093472495 cites W1980064899 @default.
- W3093472495 cites W1980147119 @default.
- W3093472495 cites W1987315764 @default.
- W3093472495 cites W1992485307 @default.
- W3093472495 cites W1993028907 @default.
- W3093472495 cites W1994778680 @default.
- W3093472495 cites W2003418149 @default.
- W3093472495 cites W2008708467 @default.
- W3093472495 cites W2009672824 @default.
- W3093472495 cites W2013257331 @default.
- W3093472495 cites W2014654615 @default.
- W3093472495 cites W2015973062 @default.
- W3093472495 cites W2023350260 @default.
- W3093472495 cites W2024405748 @default.
- W3093472495 cites W2035687084 @default.
- W3093472495 cites W2036233872 @default.
- W3093472495 cites W2038802933 @default.
- W3093472495 cites W2039855201 @default.
- W3093472495 cites W2043339138 @default.
- W3093472495 cites W2044740902 @default.
- W3093472495 cites W2047968138 @default.
- W3093472495 cites W2054998720 @default.
- W3093472495 cites W2055823448 @default.
- W3093472495 cites W2055953332 @default.
- W3093472495 cites W2056472930 @default.
- W3093472495 cites W2059145105 @default.
- W3093472495 cites W2063192890 @default.
- W3093472495 cites W2064613880 @default.
- W3093472495 cites W2068052967 @default.
- W3093472495 cites W2069197202 @default.
- W3093472495 cites W2072135452 @default.
- W3093472495 cites W2072470057 @default.
- W3093472495 cites W2076048958 @default.
- W3093472495 cites W2076177085 @default.
- W3093472495 cites W2076268609 @default.
- W3093472495 cites W2081762851 @default.
- W3093472495 cites W2083799886 @default.
- W3093472495 cites W2085909854 @default.
- W3093472495 cites W2087777913 @default.
- W3093472495 cites W2089335658 @default.
- W3093472495 cites W2094795801 @default.
- W3093472495 cites W2098425296 @default.
- W3093472495 cites W2099099776 @default.
- W3093472495 cites W2099564671 @default.
- W3093472495 cites W2108113018 @default.
- W3093472495 cites W2116099439 @default.
- W3093472495 cites W2122732537 @default.
- W3093472495 cites W2124927590 @default.
- W3093472495 cites W2128733938 @default.
- W3093472495 cites W2129077731 @default.
- W3093472495 cites W2129572698 @default.
- W3093472495 cites W2131206808 @default.
- W3093472495 cites W2136513422 @default.
- W3093472495 cites W2138590740 @default.
- W3093472495 cites W2139877281 @default.
- W3093472495 cites W2141920771 @default.
- W3093472495 cites W2143238378 @default.
- W3093472495 cites W2145187337 @default.
- W3093472495 cites W2146619649 @default.
- W3093472495 cites W2147993766 @default.
- W3093472495 cites W2154319440 @default.
- W3093472495 cites W2154822364 @default.
- W3093472495 cites W2160451368 @default.
- W3093472495 cites W2160940635 @default.
- W3093472495 cites W2162097287 @default.
- W3093472495 cites W2163171508 @default.
- W3093472495 cites W2163721943 @default.
- W3093472495 cites W2164243919 @default.
- W3093472495 cites W2165315764 @default.
- W3093472495 cites W2167257571 @default.
- W3093472495 cites W2168621448 @default.
- W3093472495 cites W2217998462 @default.
- W3093472495 cites W2286053987 @default.
- W3093472495 cites W2346785712 @default.
- W3093472495 cites W241954630 @default.