FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3004562166> ?p ?o ?g. }

• W3004562166 endingPage "377" @default.
• W3004562166 startingPage "349" @default.
• W3004562166 abstract "Sjögren–Larsson syndrome (SLS) is an autoimmune disorder inherited in an autosomal recessive pattern. To date, 80 missense mutations have been identified in association with the Aldehyde Dehydrogenase 3 Family Member A2 (ALDH3A2) gene causing SLS. Disruption of the function of ALDH3A2 leads to excessive accumulation of fat in the cells, which interferes with the normal function of protective membranes or materials that are necessary for the body to function normally. We retrieved 54 missense mutations in the ALDH3A2 from the OMIM, UniProt, dbSNP, and HGMD databases that are known to cause SLS. These mutations were examined with various in silico stability tools, which predicted that the mutations p.S308N and p.R423H that are located at the protein-protein interaction domains are the most destabilizing. Furthermore, to determine the atomistic-level differences within the protein-protein interactions owing to mutations, we performed macromolecular simulation (MMS) using GROMACS to validate the motion patterns and dynamic behavior of the biological system. We found that both mutations (p.S380N and p.R423H) had significant effects on the protein-protein interaction and disrupted the dimeric interactions. The computational pipeline provided in this study helps to elucidate the potential structural and functional differences between the ALDH3A2 native and mutant homodimeric proteins, and will pave the way for drug discovery against specific targets in the SLS patients." @default.
• W3004562166 created "2020-02-14" @default.
• W3004562166 creator A5006780039 @default.
• W3004562166 creator A5012566021 @default.
• W3004562166 creator A5018036135 @default.
• W3004562166 creator A5023159797 @default.
• W3004562166 creator A5038302907 @default.
• W3004562166 creator A5048855612 @default.
• W3004562166 creator A5065718195 @default.
• W3004562166 creator A5072619156 @default.
• W3004562166 creator A5083696259 @default.
• W3004562166 creator A5088728124 @default.
• W3004562166 date "2020-01-01" @default.
• W3004562166 modified "2023-10-02" @default.
• W3004562166 title "Comprehensive in silico screening and molecular dynamics studies of missense mutations in Sjogren-Larsson syndrome associated with the ALDH3A2 gene" @default.
• W3004562166 cites W1031578623 @default.
• W3004562166 cites W1134957565 @default.
• W3004562166 cites W1533371356 @default.
• W3004562166 cites W1926568554 @default.
• W3004562166 cites W1965476767 @default.
• W3004562166 cites W1971938921 @default.
• W3004562166 cites W1974599488 @default.
• W3004562166 cites W1976499671 @default.
• W3004562166 cites W1986891519 @default.
• W3004562166 cites W1991229004 @default.
• W3004562166 cites W1995816895 @default.
• W3004562166 cites W1996604505 @default.
• W3004562166 cites W1996605319 @default.
• W3004562166 cites W2000050183 @default.
• W3004562166 cites W2002052142 @default.
• W3004562166 cites W2005155022 @default.
• W3004562166 cites W2013192365 @default.
• W3004562166 cites W2015642465 @default.
• W3004562166 cites W2016878931 @default.
• W3004562166 cites W2019153476 @default.
• W3004562166 cites W2021952312 @default.
• W3004562166 cites W2022202957 @default.
• W3004562166 cites W2022880949 @default.
• W3004562166 cites W2031772330 @default.
• W3004562166 cites W2034116557 @default.
• W3004562166 cites W2039878336 @default.
• W3004562166 cites W2051500609 @default.
• W3004562166 cites W2053833889 @default.
• W3004562166 cites W2059873379 @default.
• W3004562166 cites W2064488723 @default.
• W3004562166 cites W2070871842 @default.
• W3004562166 cites W2076950392 @default.
• W3004562166 cites W2077657779 @default.
• W3004562166 cites W2078421981 @default.
• W3004562166 cites W2092124807 @default.
• W3004562166 cites W2093427030 @default.
• W3004562166 cites W2095150244 @default.
• W3004562166 cites W2097889307 @default.
• W3004562166 cites W2099693688 @default.
• W3004562166 cites W2103210604 @default.
• W3004562166 cites W2103459989 @default.
• W3004562166 cites W2110120447 @default.
• W3004562166 cites W2110869427 @default.
• W3004562166 cites W2112480941 @default.
• W3004562166 cites W2121519777 @default.
• W3004562166 cites W2122732537 @default.
• W3004562166 cites W2126609323 @default.
• W3004562166 cites W2130086970 @default.
• W3004562166 cites W2130479394 @default.
• W3004562166 cites W2132629607 @default.
• W3004562166 cites W2133465259 @default.
• W3004562166 cites W2136513422 @default.
• W3004562166 cites W2140349867 @default.
• W3004562166 cites W2146208101 @default.
• W3004562166 cites W2147573919 @default.
• W3004562166 cites W2148502410 @default.
• W3004562166 cites W2160653669 @default.
• W3004562166 cites W2162128823 @default.
• W3004562166 cites W2163259162 @default.
• W3004562166 cites W2166091639 @default.
• W3004562166 cites W2168621448 @default.
• W3004562166 cites W2170564629 @default.
• W3004562166 cites W2171610577 @default.
• W3004562166 cites W2176807804 @default.
• W3004562166 cites W2183747868 @default.
• W3004562166 cites W2202070586 @default.
• W3004562166 cites W2267291411 @default.
• W3004562166 cites W2326365831 @default.
• W3004562166 cites W2328751986 @default.
• W3004562166 cites W2343448329 @default.
• W3004562166 cites W2376573086 @default.
• W3004562166 cites W2418388116 @default.
• W3004562166 cites W2469738507 @default.
• W3004562166 cites W2507489542 @default.
• W3004562166 cites W2555141287 @default.
• W3004562166 cites W2558879065 @default.
• W3004562166 cites W2584633771 @default.
• W3004562166 cites W2594635508 @default.
• W3004562166 cites W2604078450 @default.
• W3004562166 cites W2606263411 @default.
• W3004562166 cites W2615841538 @default.
• W3004562166 cites W2720897370 @default.
• W3004562166 cites W2751476102 @default.

• next