PXD021321

PXD021321 is an original dataset announced via ProteomeXchange.

Title	Glycosyltransferase POMGnT1 deficiency affects N-cadherin-mediated cell-cell adhesion
Description	Deficiencies in the protein O-mannose β1,2-N-acetylglucosaminyltransferase 1 (POMGNT1), a glycosyltransferase involved in the elongation of classic O-mannosyl glycans, are mainly associated with muscle-eye-brain disease (MEB), a genetically heterogeneous congenital muscular dystrophy with brain and eye anomalies. Although occasional aberrant cell-cell adhesion has been observed in response to changes in POMGNT1 levels, direct molecular mechanisms are largely unknown. POMGNT1 knock-out HEK293T cells and fibroblasts derived from MEB patients were used to get deeper insight in POMGNT1 deficiency by the combination of biochemical, cell and molecular biological techniques with proteomics and glycan-profile.
HostingRepository	PRIDE
AnnounceDate	2021-02-18
AnnouncementXML	Submission_2021-02-18_00:39:52.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Patrick Winterhalter
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	No PTMs are included in the dataset
Instrument	LTQ Orbitrap

Revision	Datetime	Status	ChangeLog Entry
0	2020-09-04 08:23:31	ID requested
⏵ 1	2021-02-18 00:39:52	announced

Dataset with its publication pending

submitter keyword: POMGNT1, POMGnT1, PMGT1, Pomgnt1, Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1, Mannosylation, MEB, Muscle-eye-brain disease, Muscular dystrophy-dystroglycanopathy

Sabine Strahl
contact affiliation	Centre for Organismal Studies (COS) Heidelberg Im Neuenheimer Feld 360 69120 Heidelberg Fon +49 6221 54-6286 Fax +49 6221 54-5859
contact email	sabine.strahl@cos.uni-heidelberg.de
lab head
Patrick Winterhalter
contact affiliation	Clinic for Heart Surgery Martin-Luther-University Halle-Wittenberg Ernst-Grube Str. 40 06120 Halle (Saale) Phone: +49 (0) 345-557-7068 E-Mail: patrick.winterhalter@uk-halle.de
contact email	winterhalter.patrick@gmail.com
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/2021/02/PXD021321

PRIDE project URI

• PRIDE
  1. PXD021321
     1. Label: PRIDE project
     2. Name: Glycosyltransferase POMGnT1 deficiency affects N-cadherin-mediated cell-cell adhesion