PXD017107

PXD017107 is an original dataset announced via ProteomeXchange.

Title	Mutations in the exocyst component EXOC2 (Sec5) cause severe defects in human brain development
Description	The exocyst is an octameric protein complex and an essential component of the membrane transport machinery required for tethering vesicles at the plasma membrane prior to fusion. Here we report on pathogenic variants in one of the exocyst subunits, EXOC2 (Sec5), in unrelated families. Analysis of patient’s fibroblasts revealed reduced protein levels in Family 1, impaired secretory vesicle fusion with the plasma membrane and defective bulk exocytosis. Based on genetic and functional genomics findings, we suggest that the EXOC2 variants we have identified are the cause of the neurological disorder in these patients.
HostingRepository	PRIDE
AnnounceDate	2023-11-14
AnnouncementXML	Submission_2023-11-14_09:01:15.470.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	David Stroud
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	monohydroxylated residue; acetylated residue; iodoacetamide derivatized residue; deamidated residue
Instrument	Orbitrap Fusion Lumos

Revision	Datetime	Status	ChangeLog Entry
0	2020-01-15 02:28:30	ID requested
1	2020-06-29 01:00:10	announced
2	2020-07-01 01:03:06	announced	2020-07-01: Updated publication reference for DOI(s): null.
3	2020-09-23 02:05:21	announced	2020-07-01: Updated publication reference for DOI(s): null. 2020-09-23: Updated publication reference for PubMed record(s): 32639540. 2020-09-23: Updated publication reference for DOI(s): null.
⏵ 4	2023-11-14 09:01:23	announced	2023-11-14: Updated project metadata.

Van Bergen NJ, Ahmed SM, Collins F, Cowley M, Vetro A, Dale RC, Hock DH, de Caestecker C, Menezes M, Massey S, Ho G, Pisano T, Glover S, Gusman J, Stroud DA, Dinger M, Guerrini R, Macara IG, Christodoulou J, Mutations in the exocyst component EXOC2 cause severe defects in human brain development. J Exp Med, 217(10):(2020) [pubmed]

submitter keyword: Human, EXOC2, fibroblasts, TMT6plex

David Arthur Stroud
contact affiliation	Department of Biochemistry and Molecular Biology and The Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria, 3010, Australia.
contact email	david.stroud@unimelb.edu.au
lab head
David Stroud
contact affiliation	The University of Melbourne
contact email	david.stroud@unimelb.edu.au
dataset submitter

Dataset FTP location NOTE: Most web browsers have now discontinued native support for FTP access within the browser window. But you can usually install another FTP app (we recommend FileZilla) and configure your browser to launch the external application when you click on this FTP link. Or otherwise, launch an app that supports FTP (like FileZilla) and use this address: ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2020/06/PXD017107

PRIDE project URI

• PRIDE
  1. PXD017107
     1. Label: PRIDE project
     2. Name: Mutations in the exocyst component EXOC2 (Sec5) cause severe defects in human brain development