PXD012558-1

PXD012558 is an original dataset announced via ProteomeXchange.

Title	Proteomic Investigations into Adult Polyglucosan Body Disease
Description	Adult polyglucosan body disease is a rare autosomal recessive neurologicla disorder with progressive paralysis, sensory deficits, and neurogenic bladder usually manifesting late in life. The disease is derived from glycogen branching enzyme deficiency that leads to aggregation of polyglucosan bodies in many cell types. This project focuses on delinating disease mechanisms in APBD through studying the proteomes of lymphoblasts of 3 patients with APBD and comparing them to several controls.
HostingRepository	PRIDE
AnnounceDate	2023-11-08
AnnouncementXML	Submission_2023-11-08_06:58:05.502.xml
DigitalObjectIdentifier	https://dx.doi.org/10.6019/PXD012558
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Supported dataset by repository
PrimarySubmitter	KathleenLundberg
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	Carbamidomethyl
Instrument	LTQ Orbitrap Elite

Revision	Datetime	Status	ChangeLog Entry
0	2019-01-29 05:40:47	ID requested
⏵ 1	2023-11-08 06:58:05	announced

10.6019/PXD012558;

curator keyword: Biomedical

submitter keyword: Human, APBD, Adult Polyglucosan Body Disease, lymphoblast

MarvinNatowicz
contact affiliation	Pathology and Laboratory Medicine, Genomic Medicine, Neurological and Pediatrics Institutes, Cleveland Clinic
contact email	natowim@ccf.org
lab head
KathleenLundberg
contact affiliation	Case Western Reserve University
contact email	kathleen.lundberg@case.edu
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/2023/11/PXD012558

PRIDE project URI

• PRIDE
  1. PXD012558
     1. Label: PRIDE project
     2. Name: Proteomic Investigations into Adult Polyglucosan Body Disease