PXD008014 is an
original dataset announced via ProteomeXchange.
Dataset Summary
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 |
Dataset History
Revision | Datetime | Status | ChangeLog Entry |
0 | 2017-10-23 02:05:28 | ID requested | |
⏵ 1 | 2018-10-22 10:56:59 | announced | |
Publication List
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] |
Keyword List
curator keyword: Biological, Biomedical |
submitter keyword: PTEN, demyelinating motor neuropathy |
Contact List
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 | |
Full Dataset Link List
Dataset FTP location
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PRIDE project URI |
Repository Record List
[ + ]
[ - ]
- PRIDE
- PXD008014
- Label: PRIDE project
- Name: Multifocal demyelinating motor neuropathy associated with a de novo PTEN mutation