PXD007547

PXD007547 is an original dataset announced via ProteomeXchange.

Title	LC-MS/MS analysis of soluble lysosomal enzymes
Description	Mucolipidosis III gamma (MLIII) is clinically characterized by onset of first symptoms at an average of 5 years such as stiffness of hands and shoulders, claw hand deformities, scoliosis and progressive destruction of hip joints. The disease is caused by mutations in GNPTG encoding the gamma-subunit of the GlcNAc-1-phosphotransferase complex. This enzyme is responsible for the generation of mannose 6-phosphate (M6P) targeting signals on 70 soluble lysosomal enzymes that are required for their efficient receptor-mediated transport to lysosomes. Complementary SILAC-based lysosomal proteomics revealed decreased amounts of several lysosomal enzymes in Gnptg-KO fibroblasts involved in the degradation of lipids, glycans and proteins.
HostingRepository	PRIDE
AnnounceDate	2018-06-07
AnnouncementXML	Submission_2018-06-07_03:27:48.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Melanie Thelen
SpeciesList	scientific name: Mus musculus (Mouse); NCBI TaxID: 10090;
ModificationList	No PTMs are included in the dataset
Instrument	LTQ Orbitrap Velos; LTQ Orbitrap

Revision	Datetime	Status	ChangeLog Entry
0	2017-08-24 03:41:37	ID requested
⏵ 1	2018-06-07 03:27:49	announced

Dataset with its publication pending

curator keyword: Biological

submitter keyword: Mucolipidosis, lysosomal proteomics

Sandra Pohl
contact affiliation	University Hospital Hamburg Eppendorf
contact email	s.pohl@uke.de
lab head
Melanie Thelen
contact affiliation	Institute for Biochemistry and Molecular Biology, University Bonn, Germany
contact email	mthelen@uni-bonn.de
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/2018/06/PXD007547

PRIDE project URI

• PRIDE
  1. PXD007547
     1. Label: PRIDE project
     2. Name: LC-MS/MS analysis of soluble lysosomal enzymes