FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2149584682> ?p ?o ?g. }

• W2149584682 endingPage "825" @default.
• W2149584682 startingPage "811" @default.
• W2149584682 abstract "Gaucher disease (GD) and Fabry disease (FD) are two relatively common inherited glycosphingolipidoses caused by deficiencies in the lysosomal glycosidases glucocerebrosidase and alpha-galactosidase A, respectively. For both diseases enzyme supplementation is presently used as therapy. Cells and tissues of GD and FD patients are uniformly deficient in enzyme activity , but the two diseases markedly differ in cell types showing lysosomal accumulation of the glycosphingolipid substrates glucosylceramide and globotriaosylceramide , respectively. The clinical manifestation of Gaucher disease and Fabry disease is consequently entirely different and the response to enzyme therapy is only impressive in the case of GD patients. This review compares both glycosphingolipid storage disorders with respect to similarities and differences. Presented is an update on insights regarding pathophysiological mechanisms as well as recently available biochemical markers and diagnostic tools for both disorders. Special attention is paid to sphingoid bases of the primary storage lipids in both diseases. The value of elevated glucosylsphingosine in Gaucher disease and globotriaosylsphingosine in Fabry disease for diagnosis and monitoring of disease is discussed as well as the possible contribution of the sphingoid bases to (patho)physiology. This article is part of a Special Issue entitled New Frontiers in Sphingolipid Biology. • Gaucher and Fabry diseases are both lysosomal glycosphingolipid storage disorders due to glycosidase deficiencies. • Clinical manifestations, diagnostic issues, and therapy approaches for both diseases are viewed. • The occurrence and possible implications of lyso-glycosphingolipids in both diseases are discussed. • Design and use of activity-based probes allowing visualization of active glycosidases in situ are described." @default.
• W2149584682 created "2016-06-24" @default.
• W2149584682 creator A5003685369 @default.
• W2149584682 creator A5013935159 @default.
• W2149584682 creator A5016363241 @default.
• W2149584682 creator A5022416494 @default.
• W2149584682 creator A5034296869 @default.
• W2149584682 creator A5036915262 @default.
• W2149584682 creator A5040386068 @default.
• W2149584682 creator A5066577175 @default.
• W2149584682 creator A5088523142 @default.
• W2149584682 creator A5090495913 @default.
• W2149584682 date "2014-05-01" @default.
• W2149584682 modified "2023-09-30" @default.
• W2149584682 title "Gaucher disease and Fabry disease: New markers and insights in pathophysiology for two distinct glycosphingolipidoses" @default.
• W2149584682 cites W1506724492 @default.
• W2149584682 cites W1509821238 @default.
• W2149584682 cites W1549828915 @default.
• W2149584682 cites W1579829228 @default.
• W2149584682 cites W1589587532 @default.
• W2149584682 cites W1594685342 @default.
• W2149584682 cites W1831130622 @default.
• W2149584682 cites W1935024944 @default.
• W2149584682 cites W1945479327 @default.
• W2149584682 cites W1965728904 @default.
• W2149584682 cites W1966112920 @default.
• W2149584682 cites W1968362921 @default.
• W2149584682 cites W1969328459 @default.
• W2149584682 cites W1969808633 @default.
• W2149584682 cites W1970055860 @default.
• W2149584682 cites W1970279057 @default.
• W2149584682 cites W1971217129 @default.
• W2149584682 cites W1974774100 @default.
• W2149584682 cites W1976792856 @default.
• W2149584682 cites W1977943960 @default.
• W2149584682 cites W1978149966 @default.
• W2149584682 cites W1978315448 @default.
• W2149584682 cites W1978374943 @default.
• W2149584682 cites W1979235258 @default.
• W2149584682 cites W1981725999 @default.
• W2149584682 cites W1982330140 @default.
• W2149584682 cites W1983568530 @default.
• W2149584682 cites W1984841297 @default.
• W2149584682 cites W1984983689 @default.
• W2149584682 cites W1985634863 @default.
• W2149584682 cites W1986341243 @default.
• W2149584682 cites W1986406513 @default.
• W2149584682 cites W1987191800 @default.
• W2149584682 cites W1988991737 @default.
• W2149584682 cites W1989344768 @default.
• W2149584682 cites W1989712414 @default.
• W2149584682 cites W1991078747 @default.
• W2149584682 cites W1992646508 @default.
• W2149584682 cites W1994742615 @default.
• W2149584682 cites W1994786856 @default.
• W2149584682 cites W1997622565 @default.
• W2149584682 cites W1999311528 @default.
• W2149584682 cites W2000846576 @default.
• W2149584682 cites W2000961770 @default.
• W2149584682 cites W2001910743 @default.
• W2149584682 cites W2002311959 @default.
• W2149584682 cites W2002571030 @default.
• W2149584682 cites W2003176514 @default.
• W2149584682 cites W2007119228 @default.
• W2149584682 cites W2007348345 @default.
• W2149584682 cites W2009058113 @default.
• W2149584682 cites W2009366100 @default.
• W2149584682 cites W2010880643 @default.
• W2149584682 cites W2011864674 @default.
• W2149584682 cites W2012506180 @default.
• W2149584682 cites W2016725826 @default.
• W2149584682 cites W2017112394 @default.
• W2149584682 cites W2017680639 @default.
• W2149584682 cites W2017870703 @default.
• W2149584682 cites W2017903224 @default.
• W2149584682 cites W2020887709 @default.
• W2149584682 cites W2021036837 @default.
• W2149584682 cites W2022356406 @default.
• W2149584682 cites W2026374007 @default.
• W2149584682 cites W2026507072 @default.
• W2149584682 cites W2028245787 @default.
• W2149584682 cites W2030162832 @default.
• W2149584682 cites W2031365272 @default.
• W2149584682 cites W2033513131 @default.
• W2149584682 cites W2034586140 @default.
• W2149584682 cites W2034815443 @default.
• W2149584682 cites W2034955397 @default.
• W2149584682 cites W2035297516 @default.
• W2149584682 cites W2035849215 @default.
• W2149584682 cites W2042318626 @default.
• W2149584682 cites W2042609729 @default.
• W2149584682 cites W2043262304 @default.
• W2149584682 cites W2044381570 @default.
• W2149584682 cites W2045561472 @default.
• W2149584682 cites W2046604295 @default.
• W2149584682 cites W2046980105 @default.
• W2149584682 cites W2049749926 @default.
• W2149584682 cites W2055445325 @default.

• next