PXD039168-1

PXD039168 is an original dataset announced via ProteomeXchange.

Title	Enzyme replacement therapy for Fabry disease: possible strate-gies to improve its efficacy
Description	Enzyme Replacement Therapy is the only therapeutic option for Fabry patients with completely absent AGAL activity. However, it has many limitations, in terms of costs, high rh-protein re-quired, and side effects; thus, its optimization would be beneficial for patients. In this paper, we describe preliminary results paving the way for two possible approaches: i. combination of en-zyme replacement therapy with pharmacological chaperones; ii. identification of approved drugs that affect the AGAL interactors' expression. We show that galactose, a low-affinity phar-macological chaperone, can prolong rh-AGAL half-life in FD cells. We compared the wild-type AGAL and the rh-AGAL interactomes and identified a list of drugs known to affect them. This list represents a starting point to deeply screen approved drugs and identify those that can bene-fit the enzyme replacement therapy and those that can negatively interfere with it.
HostingRepository	PRIDE
AnnounceDate	2024-10-07
AnnouncementXML	Submission_2024-10-07_13:48:38.517.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Flora Cozzolino
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	(R)-5-oxo-1,4-tetrahydrothiazine-3-carboxylic acid; monohydroxylated residue; iodoacetamide derivatized residue
Instrument	LTQ Orbitrap

Revision	Datetime	Status	ChangeLog Entry
0	2023-01-02 19:07:10	ID requested
⏵ 1	2024-10-07 13:48:39	announced

10.3390/ijms24054548;

Iacobucci I, Hay Mele B, Cozzolino F, Monaco V, Cimmaruta C, Monti M, Andreotti G, Monticelli M, Enzyme Replacement Therapy for FABRY Disease: Possible Strategies to Improve Its Efficacy. Int J Mol Sci, 24(5):(2023) [pubmed]

submitter keyword: Fabry disease

drug repositioning

interactome

GLA

Fabrazyme

Replagal.

Prof.ssa Maria Monti
contact affiliation	University of Naples Federico II
contact email	montimar@unina.it
lab head
Flora Cozzolino
contact affiliation	University of Naples "Federico II"
contact email	flora.cozzolino@unina.it
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/2023/05/PXD039168

PRIDE project URI

• PRIDE
  1. PXD039168
     1. Label: PRIDE project
     2. Name: Enzyme replacement therapy for Fabry disease: possible strate-gies to improve its efficacy