Matches in SemOpenAlex for { <https://semopenalex.org/work/W4377016257> ?p ?o ?g. }
Showing items 1 to 75 of
75
with 100 items per page.
- W4377016257 endingPage "S165" @default.
- W4377016257 startingPage "S165" @default.
- W4377016257 abstract "Brugada syndrome (BrS) is an inherited arrhythmogenic disease with an increased risk of sudden cardiac death. BrS is considered a genetic disorder, and recent evidence suggests that it should be considered as an oligogenic condition. Mutations are mainly related to the most the SCN5A gene, encoding the alpha subunit of the voltage-gated cardiac sodium channel (NaV1.5). and usually lead to impairment of NaV1.5 functionality, which is still considered the main mechanism of the disease. However, SCN5A mutations are responsible for only 30% of BrS cases. Therefore, it is conceivable that other mechanisms such as post-translational modifications (PTMs) affect NaV1.5 activity. Among others, sialylation may alter ion channel activity by carrying a sugar with a negative charge. Alterations in sialylation have been described in several cardiovascular diseases, as myocardial infarction, Chagas disease, and congenital disorders of glycosylation. The aim was to investigate changes in sialylation in BrS patients to obtain new information on the pathogenesis of BrS. Protein sialylation status of peripheral blood mononuclear cells (PBMCs) BrS patients and healthy controls was assessed with SNA lectin, a sialic acid-binding protein, by Western blot and flow cytometry. Gene expression of enzymes involved in the sialic acid pathway was also examined. NaV1.5 activity and was analyzed with patch clamp technique. The results showed a significant decrease in intracellular and extracellular protein sialylation levels in BrS PBMCs compared with controls. In addition, changes in gene expression of enzymes involved in the sialic acid pathway were detected. These changes correlated with clinical parameters associated with phenotypic expression of the disease, such as arrhythmogenic BrS substrate area. Moreover, protein desialylation caused a reduction of sodium current in an in vitro NaV1.5-overexpressing model, due to sodium channel internalization. These findings support that BrS should be considered a systemic disease and are consistent with the presence of overlapping non-cardiac pathologies, as epilepsy, skeletal muscle channelopathies, and laminopathies in BrS patients. Moreover, the discovery that molecular alterations can be found in the peripheral blood of BrS patients supports the existence of a biomarker of the disease. It is a challenge to develop an effective diagnostic test to screen broadly for BrS." @default.
- W4377016257 created "2023-05-19" @default.
- W4377016257 creator A5012880423 @default.
- W4377016257 creator A5021876600 @default.
- W4377016257 creator A5028702802 @default.
- W4377016257 creator A5031235255 @default.
- W4377016257 creator A5049150501 @default.
- W4377016257 creator A5053141192 @default.
- W4377016257 creator A5056388083 @default.
- W4377016257 creator A5075788822 @default.
- W4377016257 creator A5076632691 @default.
- W4377016257 creator A5085795320 @default.
- W4377016257 creator A5088831333 @default.
- W4377016257 date "2023-05-01" @default.
- W4377016257 modified "2023-09-27" @default.
- W4377016257 title "PO-01-216 ALTERATIONS OF SIALYLATION MACHINERY IN PERIPHERAL BLOOD OF BRUGADA SYNDROME PATIENTS" @default.
- W4377016257 doi "https://doi.org/10.1016/j.hrthm.2023.03.534" @default.
- W4377016257 hasPublicationYear "2023" @default.
- W4377016257 type Work @default.
- W4377016257 citedByCount "0" @default.
- W4377016257 crossrefType "journal-article" @default.
- W4377016257 hasAuthorship W4377016257A5012880423 @default.
- W4377016257 hasAuthorship W4377016257A5021876600 @default.
- W4377016257 hasAuthorship W4377016257A5028702802 @default.
- W4377016257 hasAuthorship W4377016257A5031235255 @default.
- W4377016257 hasAuthorship W4377016257A5049150501 @default.
- W4377016257 hasAuthorship W4377016257A5053141192 @default.
- W4377016257 hasAuthorship W4377016257A5056388083 @default.
- W4377016257 hasAuthorship W4377016257A5075788822 @default.
- W4377016257 hasAuthorship W4377016257A5076632691 @default.
- W4377016257 hasAuthorship W4377016257A5085795320 @default.
- W4377016257 hasAuthorship W4377016257A5088831333 @default.
- W4377016257 hasBestOaLocation W43770162571 @default.
- W4377016257 hasConcept C126322002 @default.
- W4377016257 hasConcept C134018914 @default.
- W4377016257 hasConcept C137061746 @default.
- W4377016257 hasConcept C202751555 @default.
- W4377016257 hasConcept C2777313579 @default.
- W4377016257 hasConcept C2777382798 @default.
- W4377016257 hasConcept C2780115458 @default.
- W4377016257 hasConcept C2780942790 @default.
- W4377016257 hasConcept C55493867 @default.
- W4377016257 hasConcept C71924100 @default.
- W4377016257 hasConcept C86803240 @default.
- W4377016257 hasConceptScore W4377016257C126322002 @default.
- W4377016257 hasConceptScore W4377016257C134018914 @default.
- W4377016257 hasConceptScore W4377016257C137061746 @default.
- W4377016257 hasConceptScore W4377016257C202751555 @default.
- W4377016257 hasConceptScore W4377016257C2777313579 @default.
- W4377016257 hasConceptScore W4377016257C2777382798 @default.
- W4377016257 hasConceptScore W4377016257C2780115458 @default.
- W4377016257 hasConceptScore W4377016257C2780942790 @default.
- W4377016257 hasConceptScore W4377016257C55493867 @default.
- W4377016257 hasConceptScore W4377016257C71924100 @default.
- W4377016257 hasConceptScore W4377016257C86803240 @default.
- W4377016257 hasIssue "5" @default.
- W4377016257 hasLocation W43770162571 @default.
- W4377016257 hasOpenAccess W4377016257 @default.
- W4377016257 hasPrimaryLocation W43770162571 @default.
- W4377016257 hasRelatedWork W1966504330 @default.
- W4377016257 hasRelatedWork W1979139803 @default.
- W4377016257 hasRelatedWork W2030889776 @default.
- W4377016257 hasRelatedWork W2037631372 @default.
- W4377016257 hasRelatedWork W2040058909 @default.
- W4377016257 hasRelatedWork W2086566383 @default.
- W4377016257 hasRelatedWork W2132898409 @default.
- W4377016257 hasRelatedWork W2597940648 @default.
- W4377016257 hasRelatedWork W2600182461 @default.
- W4377016257 hasRelatedWork W2748952813 @default.
- W4377016257 hasVolume "20" @default.
- W4377016257 isParatext "false" @default.
- W4377016257 isRetracted "false" @default.
- W4377016257 workType "article" @default.