PXD015602

PXD015602 is an original dataset announced via ProteomeXchange.

Title	IP-MS of ALS-linked PFN1 variants
Description	Dominant mutations in profilin-1 (PFN1) are associated with amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease characterized by motor neuron loss, paralysis, and death from respiratory failure. Our lab recently demonstrated that PFN1 mutant proteins are destabilized—they unfold at milder conditions during thermal and chemical denaturation. Furthermore, we and others have shown that mutant PFN1 is more prone to misfold and aggregate. This misfolding alters the protein-protein interactions of PFN1, as demonstrated by an immunoprecipitation-mass spectrometry (IP-MS) screen of wild-type and ALS-associated PFN1 variants. While ALS-associated mutants do not show loss of interaction, several variants have altered interactions with one or several formin family proteins, a group of proteins that interact with profilins to regulate actin polymerization.
HostingRepository	PRIDE
AnnounceDate	2024-10-22
AnnouncementXML	Submission_2024-10-22_05:31:32.612.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Daryl Bosco
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	monohydroxylated residue; acetylated residue
Instrument	Q Exactive

Revision	Datetime	Status	ChangeLog Entry
0	2019-09-26 02:13:32	ID requested
1	2022-02-15 09:48:02	announced
⏵ 2	2024-10-22 05:31:33	announced	2024-10-22: Updated project metadata.

10.1073/pnas.2024605118;

Schmidt EJ, Funes S, McKeon JE, Morgan BR, Boopathy S, O'Connor LC, Bilsel O, Massi F, J, é, gou A, Bosco DA, ALS-linked PFN1 variants exhibit loss and gain of functions in the context of formin-induced actin polymerization. Proc Natl Acad Sci U S A, 118(23):(2021) [pubmed]

submitter keyword: PFN1, amyotrophic lateral sclerosis,ALS, diaphanous, profilin 1, formin

Daryl Bosco
contact affiliation	University of Massachusetts, Department of Neurology
contact email	Daryl.Bosco@umassmed.edu
lab head
Daryl Bosco
contact affiliation	UMass Chan Medical School
contact email	daryl.bosco@umassmed.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/2022/02/PXD015602

PRIDE project URI

• PRIDE
  1. PXD015602
     1. Label: PRIDE project
     2. Name: IP-MS of ALS-linked PFN1 variants