PXD007710

PXD007710 is an original dataset announced via ProteomeXchange.

Title	ALS Associated Mutations in Matrin 3 Alter Protein-Protein Interactions and Impede mRNA Nuclear Export
Description	Mutations in Matrin 3 have recently been linked to ALS, though the mechanism of disease in these patients is still unknown. To define the protein interactome of wild-type and ALS-linked MATR3 mutations, we performed immunoprecipitation followed by mass spectrometry experiments in NSC-34 cells expressing human wild-type or mutant Matrin 3. Gene ontology analysis identified a novel role for Matrin in mRNA transport centered around proteins in the TRanscription and EXport (TREX) complex, known to function in mRNA biogenesis and nuclear export. ALS-linked mutations in Matrin 3 led to its re-distribution within the nucleus, decreased co-localization with endogenous Matrin 3 and increased co-localization with TREX components. Expression of disease-causing Matrin 3 mutations led to nuclear mRNA export defects of both global mRNA and the mRNA of ALS linked proteins TDP-43 and FUS. Our findings demonstrate the first pathogenic mechanism attributable to MATR3 mutations and further link cellular transport defects to ALS.
HostingRepository	PRIDE
AnnounceDate	2017-11-15
AnnouncementXML	Submission_2017-11-15_01:23:12.xml
DigitalObjectIdentifier	https://dx.doi.org/10.6019/PXD007710
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Supported dataset by repository
PrimarySubmitter	Krystine Mansfield
SpeciesList	scientific name: Mus musculus (Mouse); NCBI TaxID: 10090;
ModificationList	Ammonia-loss; Dehydrated; Oxidation; Acetyl; Carbamidomethyl
Instrument	LTQ Orbitrap Velos

Revision	Datetime	Status	ChangeLog Entry
0	2017-09-11 01:48:59	ID requested
⏵ 1	2017-11-15 01:23:13	announced

Boehringer A, Garcia-Mansfield K, Singh G, Bakkar N, Pirrotte P, Bowser R, ALS Associated Mutations in Matrin 3 Alter Protein-Protein Interactions and Impede mRNA Nuclear Export. Sci Rep, 7(1):14529(2017) [pubmed]

curator keyword: Biomedical

submitter keyword: Matrin-3, ALS, TREX, LC/MS-MS

Patrick Pirrotte
contact affiliation	2Collaborative Center for Translational Mass Spectrometry, Translational Genomics Research Institute, Phoenix, AZ, USA
contact email	ppirrotte@tgen.org
lab head
Krystine Mansfield
contact affiliation	TGen
contact email	kgarcia@tgen.org
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/2017/11/PXD007710

PRIDE project URI

• PRIDE
  1. PXD007710
     1. Label: PRIDE project
     2. Name: ALS Associated Mutations in Matrin 3 Alter Protein-Protein Interactions and Impede mRNA Nuclear Export