FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2158207946> ?p ?o ?g. }

• W2158207946 abstract "textabstractSince the discovery of the lysosome as a distinct subcellularcompartment important for intracellular digestion, bythe group of De Duve in 1955, more than 70 lysosomal hydrolaseshave been described. A genetically determined deficiencyof one of these enzymes may result in the intralysosomalaccumulation of cellular constituents or extracellularproducts. Depending on the function of the enzyme, the rate ofaccumulation and the interference with the cellular metabolism,a variety of clinical and pathological manifestationswill occur. Up to now more than 30 lysosomal storage disordersare known, nearly all of which are of autosomal recessiveinheritance.This thesis deals with the genetic and molecular characterizationof genetic diseases associated with a deficiencyof lysosomal neuraminidase.Neuraminidases (EC 3.2.1.18, sialidase, N-acetyl-neuraminosylglycohydrolase) catalyze the hydrolysis of neuraminicacid residues (sialic acids) from a variety of neuraminic acid- containing compounds. These enzymes are widely distributedin nature and in mammalian cells they form a heterogeneousgroup as far as their subcellular localization and substratespecificity are concerned. Our experimental work has focussedon the lysosomal neuraminidases which catalyze the cleavage ofN-acetylneurarninic acid residues from glycoproteins, oligosaccharidesand glycopeptides. The availability of an artificialfluorogenic substrate (4-rnethylumbelliferyl-N-acetyl-neuraminicacid) permitting a sensitive and reliable enzyme assay,has greatly facilitated both the diagnostic work and theresearch described in this thesis." @default.
• W2158207946 created "2016-06-24" @default.
• W2158207946 creator A5005464442 @default.
• W2158207946 date "1986-09-03" @default.
• W2158207946 modified "2023-09-27" @default.
• W2158207946 title "Lysosomal neuraminidase in human genetic diseases" @default.
• W2158207946 cites W129021991 @default.
• W2158207946 cites W1482793952 @default.
• W2158207946 cites W1499156728 @default.
• W2158207946 cites W1500181036 @default.
• W2158207946 cites W153968177 @default.
• W2158207946 cites W157660340 @default.
• W2158207946 cites W1580745621 @default.
• W2158207946 cites W1583136696 @default.
• W2158207946 cites W1584630693 @default.
• W2158207946 cites W1589402686 @default.
• W2158207946 cites W1589863512 @default.
• W2158207946 cites W1593974469 @default.
• W2158207946 cites W1601276957 @default.
• W2158207946 cites W1604233325 @default.
• W2158207946 cites W1658606231 @default.
• W2158207946 cites W171018485 @default.
• W2158207946 cites W1746403366 @default.
• W2158207946 cites W1826433977 @default.
• W2158207946 cites W195952649 @default.
• W2158207946 cites W1966103885 @default.
• W2158207946 cites W1969713014 @default.
• W2158207946 cites W1970132860 @default.
• W2158207946 cites W1970301021 @default.
• W2158207946 cites W1971742237 @default.
• W2158207946 cites W1971887787 @default.
• W2158207946 cites W1975317517 @default.
• W2158207946 cites W1977623329 @default.
• W2158207946 cites W1982159441 @default.
• W2158207946 cites W1984844702 @default.
• W2158207946 cites W1988404931 @default.
• W2158207946 cites W1988684230 @default.
• W2158207946 cites W1991705336 @default.
• W2158207946 cites W1999552991 @default.
• W2158207946 cites W2004960505 @default.
• W2158207946 cites W2005042174 @default.
• W2158207946 cites W2008831053 @default.
• W2158207946 cites W2010429702 @default.
• W2158207946 cites W2012373598 @default.
• W2158207946 cites W2018123090 @default.
• W2158207946 cites W2020173919 @default.
• W2158207946 cites W2020185487 @default.
• W2158207946 cites W2021292255 @default.
• W2158207946 cites W2023556963 @default.
• W2158207946 cites W2030701775 @default.
• W2158207946 cites W2031692973 @default.
• W2158207946 cites W2033060552 @default.
• W2158207946 cites W2033420927 @default.
• W2158207946 cites W2042489070 @default.
• W2158207946 cites W2045538620 @default.
• W2158207946 cites W2050306038 @default.
• W2158207946 cites W2058686378 @default.
• W2158207946 cites W2058744779 @default.
• W2158207946 cites W2062612367 @default.
• W2158207946 cites W2063707326 @default.
• W2158207946 cites W2064625798 @default.
• W2158207946 cites W2068034243 @default.
• W2158207946 cites W2069883889 @default.
• W2158207946 cites W2072154807 @default.
• W2158207946 cites W2072681154 @default.
• W2158207946 cites W2075792282 @default.
• W2158207946 cites W2076559273 @default.
• W2158207946 cites W2080658483 @default.
• W2158207946 cites W2083281404 @default.
• W2158207946 cites W2085507399 @default.
• W2158207946 cites W2086271423 @default.
• W2158207946 cites W2090059558 @default.
• W2158207946 cites W2092311218 @default.
• W2158207946 cites W2100837269 @default.
• W2158207946 cites W2118640836 @default.
• W2158207946 cites W2143919765 @default.
• W2158207946 cites W2146217639 @default.
• W2158207946 cites W2149938812 @default.
• W2158207946 cites W2159540015 @default.
• W2158207946 cites W2165553038 @default.
• W2158207946 cites W2173078011 @default.
• W2158207946 cites W2177323402 @default.
• W2158207946 cites W2239887153 @default.
• W2158207946 cites W2243481627 @default.
• W2158207946 cites W2292699143 @default.
• W2158207946 cites W2322005373 @default.
• W2158207946 cites W2328527860 @default.
• W2158207946 cites W2400973342 @default.
• W2158207946 cites W2415442503 @default.
• W2158207946 cites W2423878903 @default.
• W2158207946 cites W2430217402 @default.
• W2158207946 cites W2436329945 @default.
• W2158207946 cites W2489568905 @default.
• W2158207946 cites W2499329879 @default.
• W2158207946 cites W273512382 @default.
• W2158207946 cites W2760049472 @default.
• W2158207946 cites W2913082666 @default.
• W2158207946 cites W3145894777 @default.
• W2158207946 cites W564066733 @default.
• W2158207946 cites W583431406 @default.

• next