Matches in SemOpenAlex for { <https://semopenalex.org/work/W1965610880> ?p ?o ?g. }
Showing items 1 to 70 of
70
with 100 items per page.
- W1965610880 endingPage "327" @default.
- W1965610880 startingPage "327" @default.
- W1965610880 abstract "Objectives: This report presents an overview of the nearly 100-year history of the study of Tay-Sachs disease in the Ashkenazi Jewish population. Design and Methods: Each major step leading to our present understanding of the disease are highlighted.Results: The original interest in the cause of this devastating disease in the late 1800s led to the identification of a novel glycolipid, GM2 ganglioside, stored in the neurons of Tay-Sachs patients in the 1930s, and the elucidation of its structure in the 1960s. The identification of the defective isozyme, β-hexosaminidase A, followed in 1968–1969. Elucidation of the subunit structures of the hexosaminidase A (αβ) and B (ββ) isozymes in 1973 and their purification in 1974–1980, led to the characterization of the biosynthesis, assembly, intracellular transport, and posttranslational processing of the two subunits in the 1980s. The ability to purify milligram quantities of the isozymes made possible the isolation of cDNA clones encoding both subunits in 1985, and ultimately the identification of the causes of Jewish Tay-Sachs disease at the genomic DNA level in 1988.Conclusions: Tay-Sachs disease is the major model for lysosomal storage diseases. Similarly, the work done in the 1980s on hexosaminidase has been used as a model for understanding the cell biology of many other lysosomal proteins. Current research encompassing the fields of enzymology, cell biology, and molecular biology is linking genotypes with the clinical phenotypes of patients with Tay-Sachs and related diseases." @default.
- W1965610880 created "2016-06-24" @default.
- W1965610880 creator A5009025514 @default.
- W1965610880 creator A5072368333 @default.
- W1965610880 creator A5078702171 @default.
- W1965610880 date "1995-06-01" @default.
- W1965610880 modified "2023-10-17" @default.
- W1965610880 title "Comparaison of immunoturbidimetric and FPLC methods for the measurement of glycated hemoglobin A1c (HbA1c)" @default.
- W1965610880 doi "https://doi.org/10.1016/0009-9120(95)91360-f" @default.
- W1965610880 hasPublicationYear "1995" @default.
- W1965610880 type Work @default.
- W1965610880 sameAs 1965610880 @default.
- W1965610880 citedByCount "0" @default.
- W1965610880 crossrefType "journal-article" @default.
- W1965610880 hasAuthorship W1965610880A5009025514 @default.
- W1965610880 hasAuthorship W1965610880A5072368333 @default.
- W1965610880 hasAuthorship W1965610880A5078702171 @default.
- W1965610880 hasConcept C104317684 @default.
- W1965610880 hasConcept C111204789 @default.
- W1965610880 hasConcept C119795356 @default.
- W1965610880 hasConcept C142724271 @default.
- W1965610880 hasConcept C181199279 @default.
- W1965610880 hasConcept C187882448 @default.
- W1965610880 hasConcept C2778098279 @default.
- W1965610880 hasConcept C2779134260 @default.
- W1965610880 hasConcept C2779390119 @default.
- W1965610880 hasConcept C2908647359 @default.
- W1965610880 hasConcept C54355233 @default.
- W1965610880 hasConcept C55493867 @default.
- W1965610880 hasConcept C70721500 @default.
- W1965610880 hasConcept C71924100 @default.
- W1965610880 hasConcept C86803240 @default.
- W1965610880 hasConcept C99454951 @default.
- W1965610880 hasConceptScore W1965610880C104317684 @default.
- W1965610880 hasConceptScore W1965610880C111204789 @default.
- W1965610880 hasConceptScore W1965610880C119795356 @default.
- W1965610880 hasConceptScore W1965610880C142724271 @default.
- W1965610880 hasConceptScore W1965610880C181199279 @default.
- W1965610880 hasConceptScore W1965610880C187882448 @default.
- W1965610880 hasConceptScore W1965610880C2778098279 @default.
- W1965610880 hasConceptScore W1965610880C2779134260 @default.
- W1965610880 hasConceptScore W1965610880C2779390119 @default.
- W1965610880 hasConceptScore W1965610880C2908647359 @default.
- W1965610880 hasConceptScore W1965610880C54355233 @default.
- W1965610880 hasConceptScore W1965610880C55493867 @default.
- W1965610880 hasConceptScore W1965610880C70721500 @default.
- W1965610880 hasConceptScore W1965610880C71924100 @default.
- W1965610880 hasConceptScore W1965610880C86803240 @default.
- W1965610880 hasConceptScore W1965610880C99454951 @default.
- W1965610880 hasIssue "3" @default.
- W1965610880 hasLocation W19656108801 @default.
- W1965610880 hasOpenAccess W1965610880 @default.
- W1965610880 hasPrimaryLocation W19656108801 @default.
- W1965610880 hasRelatedWork W1598718241 @default.
- W1965610880 hasRelatedWork W1981799194 @default.
- W1965610880 hasRelatedWork W2038124013 @default.
- W1965610880 hasRelatedWork W2089676765 @default.
- W1965610880 hasRelatedWork W2094353124 @default.
- W1965610880 hasRelatedWork W2094810102 @default.
- W1965610880 hasRelatedWork W2157362604 @default.
- W1965610880 hasRelatedWork W2164079990 @default.
- W1965610880 hasRelatedWork W3126381472 @default.
- W1965610880 hasRelatedWork W4312143566 @default.
- W1965610880 hasVolume "28" @default.
- W1965610880 isParatext "false" @default.
- W1965610880 isRetracted "false" @default.
- W1965610880 magId "1965610880" @default.
- W1965610880 workType "article" @default.