User:Lukáš Hodboď
From Proteopedia
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* Field of Expertise or Study: | * Field of Expertise or Study: | ||
Molecular biology, 1st grade of bc study | Molecular biology, 1st grade of bc study | ||
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| + | == Disease == | ||
| + | [[https://www.uniprot.org/uniprot/KCNE1_HUMAN KCNE1_HUMAN]] Mutations in KCNE1 cause long QT syndrome type 5 (LQT5) [MIM:[http://omim.org/entry/613695 613695]]. | ||
| + | Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death. <ref> PMID: 10220144 </ref> | ||
| + | Mutations in KCNE1 are the cause of Jervell and Lange-Nielsen syndrome type 2 (JLNS2)[MIM:[http://omim.org/entry/612347 612347]]. | ||
| + | The Jervell and Lange-Nielsen syndrome is an autosomal recessive disorder characterized by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death. <ref> PMID:13435203 </ref> | ||
| + | These mutations inhibit the ability of KCNE1 to form fully functional IKs channels. Mutation that disrupts the N5 sequon of KCNE1 protein hinders its glycosylation, | ||
| + | leading to the formation of channels that are unable of proper cell surface expression due to defect in anterograde trafficking. <ref>PMID:9354783</ref> <ref>PMID:9328483</ref> <ref>PMID:21676880</ref> <ref>PMID:9354802</ref> <ref>PMID:9445165</ref> <ref>PMID:10973849</ref> <ref>PMID:11692163 </ref> <ref>PMID:19716085</ref><ref>PMID:</ref> | ||
Revision as of 21:45, 28 April 2019
- Full Real Name:
Lukáš Hodboď
- Position:
Student
- Institution (NO ABBREVIATIONS):
Přírodovědecká fakulta Univerzity Karlovy
- City, State/Province, Country:
Prague, Czechia
- Field of Expertise or Study:
Molecular biology, 1st grade of bc study
Disease
[KCNE1_HUMAN] Mutations in KCNE1 cause long QT syndrome type 5 (LQT5) [MIM:613695]. Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death. [1] Mutations in KCNE1 are the cause of Jervell and Lange-Nielsen syndrome type 2 (JLNS2)[MIM:612347]. The Jervell and Lange-Nielsen syndrome is an autosomal recessive disorder characterized by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death. [2] These mutations inhibit the ability of KCNE1 to form fully functional IKs channels. Mutation that disrupts the N5 sequon of KCNE1 protein hinders its glycosylation, leading to the formation of channels that are unable of proper cell surface expression due to defect in anterograde trafficking. [3] [4] [5] [6] [7] [8] [9] [10][11]
