Matches in SemOpenAlex for { <https://semopenalex.org/work/W2945334220> ?p ?o ?g. }
- W2945334220 endingPage "50" @default.
- W2945334220 startingPage "33" @default.
- W2945334220 abstract "Wilson disease (WD) is caused by mutations in the ATP-dependent copper transporter ATP7B. Over 500 WD mutations have been identified, and frequencies of most common mutations have been established for different populations. Over the years, significant progress has been made in predicting consequences of various substitutions and testing these predictions experimentally. In this chapter, we focus on biochemical and cellular effects of representative WD-causing mutations and summarize available data for the best characterized variants. We highlight a spectrum of consequences of WD mutations, which range from the complete loss of structural integrity or transport function to a disruption of some aspects of ATP7B behavior without significant change in the others. The emerging role of single nucleotide polymorphisms as factors modifying properties of ATP7B is also discussed." @default.
- W2945334220 created "2019-05-29" @default.
- W2945334220 creator A5006210695 @default.
- W2945334220 creator A5051699385 @default.
- W2945334220 creator A5079179187 @default.
- W2945334220 date "2019-01-01" @default.
- W2945334220 modified "2023-10-16" @default.
- W2945334220 title "Biochemical and Cellular Properties of ATP7B Variants" @default.
- W2945334220 cites W1481785975 @default.
- W2945334220 cites W148518588 @default.
- W2945334220 cites W1709889435 @default.
- W2945334220 cites W1857325552 @default.
- W2945334220 cites W1961178710 @default.
- W2945334220 cites W1964339058 @default.
- W2945334220 cites W1969004465 @default.
- W2945334220 cites W1975304761 @default.
- W2945334220 cites W1975850481 @default.
- W2945334220 cites W1980969631 @default.
- W2945334220 cites W1982243317 @default.
- W2945334220 cites W1983428463 @default.
- W2945334220 cites W1985204165 @default.
- W2945334220 cites W1987516951 @default.
- W2945334220 cites W1989929523 @default.
- W2945334220 cites W1992800838 @default.
- W2945334220 cites W1994847857 @default.
- W2945334220 cites W1998884914 @default.
- W2945334220 cites W1999785018 @default.
- W2945334220 cites W2000853641 @default.
- W2945334220 cites W2007367099 @default.
- W2945334220 cites W2012766099 @default.
- W2945334220 cites W2022026882 @default.
- W2945334220 cites W2023095555 @default.
- W2945334220 cites W2023103222 @default.
- W2945334220 cites W2023618834 @default.
- W2945334220 cites W2024544489 @default.
- W2945334220 cites W2031215402 @default.
- W2945334220 cites W2034099386 @default.
- W2945334220 cites W2039741949 @default.
- W2945334220 cites W2044402907 @default.
- W2945334220 cites W2047390883 @default.
- W2945334220 cites W2047932126 @default.
- W2945334220 cites W2054576371 @default.
- W2945334220 cites W2057679380 @default.
- W2945334220 cites W2057718607 @default.
- W2945334220 cites W2060359715 @default.
- W2945334220 cites W2060840676 @default.
- W2945334220 cites W2065528345 @default.
- W2945334220 cites W2066543796 @default.
- W2945334220 cites W2066898692 @default.
- W2945334220 cites W2067559184 @default.
- W2945334220 cites W2073832531 @default.
- W2945334220 cites W2073914999 @default.
- W2945334220 cites W2078458638 @default.
- W2945334220 cites W2080265512 @default.
- W2945334220 cites W2085777790 @default.
- W2945334220 cites W2087820907 @default.
- W2945334220 cites W2105858140 @default.
- W2945334220 cites W2111712036 @default.
- W2945334220 cites W2118189054 @default.
- W2945334220 cites W2118480909 @default.
- W2945334220 cites W2119362028 @default.
- W2945334220 cites W2119780695 @default.
- W2945334220 cites W2125812338 @default.
- W2945334220 cites W2134224836 @default.
- W2945334220 cites W2134363913 @default.
- W2945334220 cites W2146707901 @default.
- W2945334220 cites W2159373390 @default.
- W2945334220 cites W2159517143 @default.
- W2945334220 cites W2164257153 @default.
- W2945334220 cites W2164653454 @default.
- W2945334220 cites W2165300003 @default.
- W2945334220 cites W2166593980 @default.
- W2945334220 cites W2168394540 @default.
- W2945334220 cites W2297411548 @default.
- W2945334220 cites W2309937068 @default.
- W2945334220 cites W232466149 @default.
- W2945334220 cites W2410938390 @default.
- W2945334220 cites W2530953138 @default.
- W2945334220 cites W2562529785 @default.
- W2945334220 cites W2579939423 @default.
- W2945334220 cites W2607393345 @default.
- W2945334220 cites W2749286950 @default.
- W2945334220 cites W2755720999 @default.
- W2945334220 cites W2765953128 @default.
- W2945334220 cites W2783306577 @default.
- W2945334220 doi "https://doi.org/10.1016/b978-0-12-811077-5.00004-9" @default.
- W2945334220 hasPublicationYear "2019" @default.
- W2945334220 type Work @default.
- W2945334220 sameAs 2945334220 @default.
- W2945334220 citedByCount "1" @default.
- W2945334220 countsByYear W29453342202021 @default.
- W2945334220 crossrefType "book-chapter" @default.
- W2945334220 hasAuthorship W2945334220A5006210695 @default.
- W2945334220 hasAuthorship W2945334220A5051699385 @default.
- W2945334220 hasAuthorship W2945334220A5079179187 @default.
- W2945334220 hasConcept C104317684 @default.
- W2945334220 hasConcept C105951970 @default.
- W2945334220 hasConcept C127716648 @default.