PXD026586

PXD026586 is an original dataset announced via ProteomeXchange.

Title	SynGAP variant from Japanese ALS cohort alters the recruitment of RNA binding proteins
Description	FUS is one of the pathogenic RNA-binding proteins for amyotrophic lateral sclerosis (ALS). We previously reported that FUS stabilized SynGAP mRNA at its 3’UTR and maintained spine maturation and cognitive function in mice. To elucidate whether this mechanism could be pathogenic for ALS, we identified SynGAP 3’UTR variant at the binding site of FUS, different from that in mice, from a multicenter cohort in Japan. Human induced pluripotent stem cells (hiPSC)-derived motor neurons with SynGAP variant showed spine abnormality with aberrant SynGAP splicing. To evaluate how SynGAP variant altered the access of RNA binding proteins to SynGAP 3'UTR, we performed pull down assay by using biotinylated RNA probes with or without the variant.
HostingRepository	PRIDE
AnnounceDate	2023-11-14
AnnouncementXML	Submission_2023-11-14_08:38:05.151.xml
DigitalObjectIdentifier	https://dx.doi.org/10.6019/PXD026586
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Supported dataset by repository
PrimarySubmitter	Satoshi Yokoi
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	No PTMs are included in the dataset
Instrument	Orbitrap Fusion

Revision	Datetime	Status	ChangeLog Entry
0	2021-06-09 01:26:40	ID requested
1	2023-03-10 23:11:54	announced
⏵ 2	2023-11-14 08:38:07	announced	2023-11-14: Updated project metadata.

10.6019/PXD026586;

Yokoi S, Ito T, Sahashi K, Nakatochi M, Nakamura R, Tohnai G, Fujioka Y, Ishigaki S, Udagawa T, Izumi Y, Morita M, Kano O, Oda M, Sone T, Okano H, Atsuta N, Katsuno M, Okada Y, Sobue G, Splicing and Dendritic Spine Loss by Recruiting HNRNPK. J Neurosci, 42(47):8881-8896(2022) [pubmed]

submitter keyword: iPSC, motor neuron, ALS, FUS, SynGAP

Masahisa Katsuno
contact affiliation	Department of Neurology, Nagoya University Graduate School of Medicine
contact email	ka2no@med.nagoya-u.ac.jp
lab head
Satoshi Yokoi
contact affiliation	Department of Neurology, Nagoya University
contact email	syokoi@med.nagoya-u.ac.jp
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/2023/03/PXD026586

PRIDE project URI

• PRIDE
  1. PXD026586
     1. Label: PRIDE project
     2. Name: SynGAP variant from Japanese ALS cohort alters the recruitment of RNA binding proteins