PXD008014-1

PXD008014 is an original dataset announced via ProteomeXchange.

Title	Multifocal demyelinating motor neuropathy associated with a de novo PTEN mutation
Description	Phosphatase and tensin homolog (PTEN) is a tumour suppressor gene associated with inherited tumour susceptibility conditions, macrocephaly, autism, ataxia, tremor and epilepsy. Functional implications of this protein have been investigated in Parkinson’s and Alzheimer’s diseases. We describe the first patient presented with multifocal demyelinating motor neuropathy in association with a de novo PTEN mutation. The pathogenicity of the mutation was supported by altered expression of several proteins involved in tumorigenesis and fibroblasts showed a reversible defect in catalytic activity of PTEN against the secondary substrate, phosphatidylinositol 3,4,-trisphosphate, suggesting a novel and potentially treatable mechanism for multi-focal demyelinating motor neuropathy.
HostingRepository	PRIDE
AnnounceDate	2018-10-22
AnnouncementXML	Submission_2018-10-22_10:56:58.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Vietxuan Phan
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	monohydroxylated residue; iodoacetamide derivatized residue
Instrument	LTQ Orbitrap Elite

Revision	Datetime	Status	ChangeLog Entry
0	2017-10-23 02:05:28	ID requested
⏵ 1	2018-10-22 10:56:59	announced

Bansagi B, Phan V, Baker MR, O'Sullivan J, Jennings MJ, Whittaker RG, M, ü, ller JS, Duff J, Griffin H, Miller JAL, Gorman GS, Lochm, ü, ller H, Chinnery PF, Roos A, Swan LE, Horvath R, mutation. Neurology, 90(21):e1842-e1848(2018) [pubmed]

curator keyword: Biological, Biomedical

submitter keyword: PTEN, demyelinating motor neuropathy

Andreas Roos
contact affiliation	(1) Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK; (2) Leibniz-Institute für Analytische Wissenschaften-ISAS- e.V., Dortmund, Germany
contact email	Andreas.Roos@newcastle.ac.uk
lab head
Vietxuan Phan
contact affiliation	ISAS
contact email	vietxuan.phan@isas.de
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/2018/10/PXD008014

PRIDE project URI

• PRIDE
  1. PXD008014
     1. Label: PRIDE project
     2. Name: Multifocal demyelinating motor neuropathy associated with a de novo PTEN mutation