Matches in SemOpenAlex for { <https://semopenalex.org/work/W67883925> ?p ?o ?g. }
Showing items 1 to 71 of
71
with 100 items per page.
- W67883925 endingPage "21" @default.
- W67883925 startingPage "115" @default.
- W67883925 abstract "Glycogen-storage disease type II, Pompe disease, is caused by the deficiency of acid alpha-D-glucosidase in lysosome. Previously we found that acid alpha-D-glucosidase did exist in the skin fibroblasts and there was also no difference of mRNA in quantity and size of Chinese infantile type Pompe disease patients in Taiwan. However, functional assay of the acid alpha-D-glucosidase of these patients showed its enzyme function to be defective. In the present study, first we identified a substitution site in four Chinese infantile patients with Pompe disease which is a cytidine to adenosine (C1935-->A) transversion at 5' end of exon 14 causing substitution of glutamic acid for aspartic acid at position 645 of the acid alpha-D-glucosidase. This substitution was introduced in wild-type cDNA and expressed in COS-1 cells. The Asp-645-->Glu substitution resulted in significant reduction of acid alpha-D-glucosidase activity. Second, according to the screening data in 25 Chinese Pompe disease patients using digestion of RT-PCR amplified specific fragment with Aat II, the restriction fragment length analysis showed that patients presented the 861 bp band and the normal individuals presented the 728 bp and 133 bp polymorphic bands. We found that the frequency of mutant allele is 0.8 in infantile patients with Chinese Pompe disease and 0 in normal individuals. These results therefore indicate that Asp-645-->Glu mutation results in infantile form of Pompe disease as the major cause in Chinese patients in Taiwan." @default.
- W67883925 created "2016-06-24" @default.
- W67883925 creator A5030743012 @default.
- W67883925 creator A5066929308 @default.
- W67883925 date "1996-03-01" @default.
- W67883925 modified "2023-10-18" @default.
- W67883925 title "Molecular study on the infantile form of Pompe disease in Chinese in Taiwan." @default.
- W67883925 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/8935410" @default.
- W67883925 hasPublicationYear "1996" @default.
- W67883925 type Work @default.
- W67883925 sameAs 67883925 @default.
- W67883925 citedByCount "7" @default.
- W67883925 countsByYear W678839252014 @default.
- W67883925 countsByYear W678839252015 @default.
- W67883925 countsByYear W678839252017 @default.
- W67883925 countsByYear W678839252019 @default.
- W67883925 countsByYear W678839252021 @default.
- W67883925 crossrefType "journal-article" @default.
- W67883925 hasAuthorship W67883925A5030743012 @default.
- W67883925 hasAuthorship W67883925A5066929308 @default.
- W67883925 hasConcept C104317684 @default.
- W67883925 hasConcept C12125453 @default.
- W67883925 hasConcept C126322002 @default.
- W67883925 hasConcept C153911025 @default.
- W67883925 hasConcept C180754005 @default.
- W67883925 hasConcept C2776735236 @default.
- W67883925 hasConcept C2779134260 @default.
- W67883925 hasConcept C2779969927 @default.
- W67883925 hasConcept C2781208047 @default.
- W67883925 hasConcept C36823959 @default.
- W67883925 hasConcept C515207424 @default.
- W67883925 hasConcept C54355233 @default.
- W67883925 hasConcept C64872895 @default.
- W67883925 hasConcept C71924100 @default.
- W67883925 hasConcept C86803240 @default.
- W67883925 hasConceptScore W67883925C104317684 @default.
- W67883925 hasConceptScore W67883925C12125453 @default.
- W67883925 hasConceptScore W67883925C126322002 @default.
- W67883925 hasConceptScore W67883925C153911025 @default.
- W67883925 hasConceptScore W67883925C180754005 @default.
- W67883925 hasConceptScore W67883925C2776735236 @default.
- W67883925 hasConceptScore W67883925C2779134260 @default.
- W67883925 hasConceptScore W67883925C2779969927 @default.
- W67883925 hasConceptScore W67883925C2781208047 @default.
- W67883925 hasConceptScore W67883925C36823959 @default.
- W67883925 hasConceptScore W67883925C515207424 @default.
- W67883925 hasConceptScore W67883925C54355233 @default.
- W67883925 hasConceptScore W67883925C64872895 @default.
- W67883925 hasConceptScore W67883925C71924100 @default.
- W67883925 hasConceptScore W67883925C86803240 @default.
- W67883925 hasIssue "2" @default.
- W67883925 hasLocation W678839251 @default.
- W67883925 hasOpenAccess W67883925 @default.
- W67883925 hasPrimaryLocation W678839251 @default.
- W67883925 hasRelatedWork W1193896167 @default.
- W67883925 hasRelatedWork W128799173 @default.
- W67883925 hasRelatedWork W1983442473 @default.
- W67883925 hasRelatedWork W199266390 @default.
- W67883925 hasRelatedWork W1993343494 @default.
- W67883925 hasRelatedWork W2014382593 @default.
- W67883925 hasRelatedWork W2035250468 @default.
- W67883925 hasRelatedWork W2050299512 @default.
- W67883925 hasRelatedWork W2101999539 @default.
- W67883925 hasRelatedWork W67883925 @default.
- W67883925 hasVolume "37" @default.
- W67883925 isParatext "false" @default.
- W67883925 isRetracted "false" @default.
- W67883925 magId "67883925" @default.
- W67883925 workType "article" @default.