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PXD050914

PXD050914 is an original dataset announced via ProteomeXchange.

Dataset Summary
TitleT he proteostasis interactomes of trafficking - deficient K V 11.1 variants associated with Long QT Syndrome and pharmacological chaperone rescue
DescriptionThe voltage gated potassium ion channel KV11.1 plays a critical role in cardiac repolarization. Genetic variants that render Kv11.1 dysfunctional cause Long QT Syndrome (LQTS), which is associated with fatal arrhythmias. Approximately 90% of LQTS-associated variants cause intracellular protein transport (trafficking) dysfunction, which can be rescued by pharmacological chaperones like E-4031. Protein folding and trafficking decisions are regulated by chaperones, protein quality control factors, and trafficking machinery comprising the cellular proteostasis network. Here, we test whether trafficking dysfunction is associated with alterations in the proteostasis network of pathogenic Kv11.1 variants, and whether pharmacological chaperones can normalize the proteostasis network of responsive variants.
HostingRepositoryPRIDE
AnnounceDate2024-10-22
AnnouncementXMLSubmission_2024-10-22_06:54:37.966.xml
DigitalObjectIdentifier
ReviewLevelPeer-reviewed dataset
DatasetOriginOriginal dataset
RepositorySupportUnsupported dataset by repository
PrimarySubmitterChristian Egly
SpeciesList scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationListiodoacetamide derivatized residue
InstrumentOrbitrap Exploris 480
Dataset History
RevisionDatetimeStatusChangeLog Entry
02024-03-22 16:05:16ID requested
12024-08-10 16:25:06announced
22024-10-22 06:54:38announced2024-10-22: Updated project metadata.
Publication List
Egly CL, Barny LA, Do T, McDonald EF, Knollmann BC, Plate L, 11.1 associated with long QT syndrome. J Biol Chem, 300(7):107465(2024) [pubmed]
10.1016/j.jbc.2024.107465;
Keyword List
submitter keyword: hERG, Long QT Syndrome,ion channel, trafficking, K V 11.1, interactome
Contact List
Lars Plate
contact affiliationVanderbilt University
contact emaillars.plate@vanderbilt.edu
lab head
Christian Egly
contact affiliationVanderbilt University Medical Center
contact emailchristian.l.egly@vumc.org
dataset submitter
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Dataset FTP location
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Repository Record List
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