Matches in SemOpenAlex for { <https://semopenalex.org/work/W1511825375> ?p ?o ?g. }
- W1511825375 abstract "Site-directed mutagenesis (SDM) is undoubtedly one of the most powerful techniques in molecular biology. In this chapter, we will describe the use of SDM in the study of the human inherited metabolic disorder, Galactosemia (Type I, II, and III) and the development of novel therapies for the disease. This powerful technique not only helped confirm suspected GAL gene mutations in Galactosemia, but also played a significant role in unraveling the catalytic mechanisms of the GAL enzymes in the conserved Leloir pathway of galactose metabolism. To date, more than thirty disease-causing mutations in the human GAL genes have been characterized in great detail; and these findings have paved the way for innovative, state-of-the-art therapies, such as chaperone therapy. Recently, in order to optimize small molecule GALK inhibitors for the treatment of Type I Galactosemia, we have employed SDM to identify amino acids of the GALK enzyme that interact with its selective inhibitors. These studies exemplified the expanding roles of SDM in innovative drug design and in kinase inhibitor selectivity." @default.
- W1511825375 created "2016-06-24" @default.
- W1511825375 creator A5004012922 @default.
- W1511825375 creator A5016713475 @default.
- W1511825375 creator A5050187057 @default.
- W1511825375 date "2013-02-05" @default.
- W1511825375 modified "2023-09-30" @default.
- W1511825375 title "Use of Site-Directed Mutagenesis in the Diagnosis, Prognosis and Treatment of Galactosemia" @default.
- W1511825375 cites W1480298024 @default.
- W1511825375 cites W1483113575 @default.
- W1511825375 cites W1506340918 @default.
- W1511825375 cites W1516675713 @default.
- W1511825375 cites W1539662630 @default.
- W1511825375 cites W1573841359 @default.
- W1511825375 cites W1579447296 @default.
- W1511825375 cites W159131106 @default.
- W1511825375 cites W1601078451 @default.
- W1511825375 cites W1611419455 @default.
- W1511825375 cites W1681697851 @default.
- W1511825375 cites W1868168182 @default.
- W1511825375 cites W1907130758 @default.
- W1511825375 cites W193377992 @default.
- W1511825375 cites W1963968225 @default.
- W1511825375 cites W1965501888 @default.
- W1511825375 cites W1966146291 @default.
- W1511825375 cites W1967081827 @default.
- W1511825375 cites W1969777277 @default.
- W1511825375 cites W1976105897 @default.
- W1511825375 cites W1976131856 @default.
- W1511825375 cites W1976637688 @default.
- W1511825375 cites W1976952114 @default.
- W1511825375 cites W1977209754 @default.
- W1511825375 cites W1977411696 @default.
- W1511825375 cites W1978135811 @default.
- W1511825375 cites W1982131709 @default.
- W1511825375 cites W1982259112 @default.
- W1511825375 cites W1983602468 @default.
- W1511825375 cites W1986883777 @default.
- W1511825375 cites W1987229178 @default.
- W1511825375 cites W1993016259 @default.
- W1511825375 cites W1993161813 @default.
- W1511825375 cites W1995924496 @default.
- W1511825375 cites W1998274428 @default.
- W1511825375 cites W2000113718 @default.
- W1511825375 cites W2005379150 @default.
- W1511825375 cites W2006120866 @default.
- W1511825375 cites W2007735611 @default.
- W1511825375 cites W2009149240 @default.
- W1511825375 cites W2009637815 @default.
- W1511825375 cites W2014808835 @default.
- W1511825375 cites W2016028983 @default.
- W1511825375 cites W2017282138 @default.
- W1511825375 cites W2021830083 @default.
- W1511825375 cites W2024790414 @default.
- W1511825375 cites W2025055039 @default.
- W1511825375 cites W2026350419 @default.
- W1511825375 cites W2028123014 @default.
- W1511825375 cites W2029216532 @default.
- W1511825375 cites W2032145697 @default.
- W1511825375 cites W2034525172 @default.
- W1511825375 cites W2035927100 @default.
- W1511825375 cites W2036792473 @default.
- W1511825375 cites W2038602808 @default.
- W1511825375 cites W2041985227 @default.
- W1511825375 cites W2042071604 @default.
- W1511825375 cites W2042483494 @default.
- W1511825375 cites W2044135844 @default.
- W1511825375 cites W2049515194 @default.
- W1511825375 cites W2050739539 @default.
- W1511825375 cites W2052579446 @default.
- W1511825375 cites W2061903556 @default.
- W1511825375 cites W2068023771 @default.
- W1511825375 cites W2072407456 @default.
- W1511825375 cites W2072549878 @default.
- W1511825375 cites W2074614070 @default.
- W1511825375 cites W2081061199 @default.
- W1511825375 cites W2085241137 @default.
- W1511825375 cites W2089360394 @default.
- W1511825375 cites W2092716180 @default.
- W1511825375 cites W2097053350 @default.
- W1511825375 cites W2101606509 @default.
- W1511825375 cites W2125043279 @default.
- W1511825375 cites W2125712542 @default.
- W1511825375 cites W2145842823 @default.
- W1511825375 cites W2160349498 @default.
- W1511825375 cites W2160792403 @default.
- W1511825375 cites W2161083455 @default.
- W1511825375 cites W2163901784 @default.
- W1511825375 cites W2164539112 @default.
- W1511825375 cites W2165206831 @default.
- W1511825375 cites W2323484495 @default.
- W1511825375 cites W2340547063 @default.
- W1511825375 cites W2495704738 @default.
- W1511825375 cites W2615157929 @default.
- W1511825375 cites W310044633 @default.
- W1511825375 cites W315067128 @default.
- W1511825375 cites W315651156 @default.
- W1511825375 doi "https://doi.org/10.5772/45645" @default.
- W1511825375 hasPublicationYear "2013" @default.
- W1511825375 type Work @default.