PXD050914

PXD050914 is an original dataset announced via ProteomeXchange.

Title	T he proteostasis interactomes of trafficking - deficient K V 11.1 variants associated with Long QT Syndrome and pharmacological chaperone rescue
Description	The 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.
HostingRepository	PRIDE
AnnounceDate	2024-10-22
AnnouncementXML	Submission_2024-10-22_06:54:37.966.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Christian Egly
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	iodoacetamide derivatized residue
Instrument	Orbitrap Exploris 480

Revision	Datetime	Status	ChangeLog Entry
0	2024-03-22 16:05:16	ID requested
1	2024-08-10 16:25:06	announced
⏵ 2	2024-10-22 06:54:38	announced	2024-10-22: Updated project metadata.

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;

submitter keyword: hERG, Long QT Syndrome,ion channel, trafficking, K V 11.1, interactome

Lars Plate
contact affiliation	Vanderbilt University
contact email	lars.plate@vanderbilt.edu
lab head
Christian Egly
contact affiliation	Vanderbilt University Medical Center
contact email	christian.l.egly@vumc.org
dataset submitter

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PRIDE project URI

• PRIDE
  1. PXD050914
     1. Label: PRIDE project
     2. Name: T he proteostasis interactomes of trafficking - deficient K V 11.1 variants associated with Long QT Syndrome and pharmacological chaperone rescue