Matches in SemOpenAlex for { <https://semopenalex.org/work/W2018232178> ?p ?o ?g. }
Showing items 1 to 98 of
98
with 100 items per page.
- W2018232178 endingPage "132" @default.
- W2018232178 startingPage "126" @default.
- W2018232178 abstract "GM1 gangliosidosis is a lysosomal storage disorder caused by deficiency of beta-galactosidase. It is mainly characterized by progressive neurodegeneration, and in its most severe infantile form, it leads to death before the age of 4. The GLB1 gene gives rise to two alternatively spliced mRNAs that encode the beta-galactosidase and the elastin binding protein (EBP). The diagnosis of two patients with the infantile form of GM1 gangliosidosis and 11 carriers in a small mountainous village in Cyprus prompted us to carry out a study in order to establish the frequency of carriers in the village and identify the mutations involved. Carrier detection was initially based on the measurement of beta-galactosidase activity in leucocytes. Among 85 random samples from the village, 10 were classified as carriers. Sequencing of the GLB1 gene in a Cypriot patient identified the missense mutation c.1445G>A (p.Arg482His) in the homozygous state. Seven of the 10 carriers identified using the enzyme assay were found to carry the same mutation by NspI restriction enzyme analysis. The three individuals who were negative for the c.1445G>A had borderline enzyme results and were probably wrongly classified as carriers. The frequency of GM1 gangliosidosis carriers in this village is approximately 8% (1:12). Western blot analysis showed a marked decrease of the 64-kDa mature form of the enzyme protein and a similar reduction of the 67-kDa EBP. Our results indicate that the c.1445G>A mutation, which appears to be responsible for all GM1 gangliosidosis alleles in this Cypriot village, affects protein conformation." @default.
- W2018232178 created "2016-06-24" @default.
- W2018232178 creator A5004665891 @default.
- W2018232178 creator A5008406656 @default.
- W2018232178 creator A5016793536 @default.
- W2018232178 creator A5048071187 @default.
- W2018232178 creator A5061268491 @default.
- W2018232178 creator A5074222588 @default.
- W2018232178 creator A5082595568 @default.
- W2018232178 creator A5083408851 @default.
- W2018232178 creator A5086385255 @default.
- W2018232178 date "2005-06-01" @default.
- W2018232178 modified "2023-10-17" @default.
- W2018232178 title "The Arg482His Mutation in the β-Galactosidase Gene Is Responsible for a High Frequency of GM1 Gangliosidosis Carriers in a Cypriot Village" @default.
- W2018232178 cites W1507429610 @default.
- W2018232178 cites W1576168172 @default.
- W2018232178 cites W1771156109 @default.
- W2018232178 cites W1973961951 @default.
- W2018232178 cites W1977322196 @default.
- W2018232178 cites W1979186944 @default.
- W2018232178 cites W1981765089 @default.
- W2018232178 cites W1983293150 @default.
- W2018232178 cites W1995790371 @default.
- W2018232178 cites W2018946459 @default.
- W2018232178 cites W2020620545 @default.
- W2018232178 cites W2035868394 @default.
- W2018232178 cites W2048236113 @default.
- W2018232178 cites W2075493559 @default.
- W2018232178 cites W2118094114 @default.
- W2018232178 cites W32592510 @default.
- W2018232178 cites W4232534952 @default.
- W2018232178 cites W4242508369 @default.
- W2018232178 doi "https://doi.org/10.1089/gte.2005.9.126" @default.
- W2018232178 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/15943552" @default.
- W2018232178 hasPublicationYear "2005" @default.
- W2018232178 type Work @default.
- W2018232178 sameAs 2018232178 @default.
- W2018232178 citedByCount "21" @default.
- W2018232178 countsByYear W20182321782012 @default.
- W2018232178 countsByYear W20182321782013 @default.
- W2018232178 countsByYear W20182321782014 @default.
- W2018232178 countsByYear W20182321782015 @default.
- W2018232178 countsByYear W20182321782017 @default.
- W2018232178 countsByYear W20182321782020 @default.
- W2018232178 countsByYear W20182321782021 @default.
- W2018232178 countsByYear W20182321782022 @default.
- W2018232178 crossrefType "journal-article" @default.
- W2018232178 hasAuthorship W2018232178A5004665891 @default.
- W2018232178 hasAuthorship W2018232178A5008406656 @default.
- W2018232178 hasAuthorship W2018232178A5016793536 @default.
- W2018232178 hasAuthorship W2018232178A5048071187 @default.
- W2018232178 hasAuthorship W2018232178A5061268491 @default.
- W2018232178 hasAuthorship W2018232178A5074222588 @default.
- W2018232178 hasAuthorship W2018232178A5082595568 @default.
- W2018232178 hasAuthorship W2018232178A5083408851 @default.
- W2018232178 hasAuthorship W2018232178A5086385255 @default.
- W2018232178 hasBestOaLocation W20182321782 @default.
- W2018232178 hasConcept C104317684 @default.
- W2018232178 hasConcept C153911025 @default.
- W2018232178 hasConcept C181199279 @default.
- W2018232178 hasConcept C2777878887 @default.
- W2018232178 hasConcept C501734568 @default.
- W2018232178 hasConcept C54355233 @default.
- W2018232178 hasConcept C55493867 @default.
- W2018232178 hasConcept C75563809 @default.
- W2018232178 hasConcept C86803240 @default.
- W2018232178 hasConceptScore W2018232178C104317684 @default.
- W2018232178 hasConceptScore W2018232178C153911025 @default.
- W2018232178 hasConceptScore W2018232178C181199279 @default.
- W2018232178 hasConceptScore W2018232178C2777878887 @default.
- W2018232178 hasConceptScore W2018232178C501734568 @default.
- W2018232178 hasConceptScore W2018232178C54355233 @default.
- W2018232178 hasConceptScore W2018232178C55493867 @default.
- W2018232178 hasConceptScore W2018232178C75563809 @default.
- W2018232178 hasConceptScore W2018232178C86803240 @default.
- W2018232178 hasIssue "2" @default.
- W2018232178 hasLocation W20182321781 @default.
- W2018232178 hasLocation W20182321782 @default.
- W2018232178 hasLocation W20182321783 @default.
- W2018232178 hasOpenAccess W2018232178 @default.
- W2018232178 hasPrimaryLocation W20182321781 @default.
- W2018232178 hasRelatedWork W1851998043 @default.
- W2018232178 hasRelatedWork W1979176079 @default.
- W2018232178 hasRelatedWork W1993437185 @default.
- W2018232178 hasRelatedWork W2031079654 @default.
- W2018232178 hasRelatedWork W2031464773 @default.
- W2018232178 hasRelatedWork W2349400098 @default.
- W2018232178 hasRelatedWork W2362650105 @default.
- W2018232178 hasRelatedWork W2419448289 @default.
- W2018232178 hasRelatedWork W2931132270 @default.
- W2018232178 hasRelatedWork W3024306633 @default.
- W2018232178 hasVolume "9" @default.
- W2018232178 isParatext "false" @default.
- W2018232178 isRetracted "false" @default.
- W2018232178 magId "2018232178" @default.
- W2018232178 workType "article" @default.