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PXD030970

PXD030970 is an original dataset announced via ProteomeXchange.

Dataset Summary
TitleMass spectrometry-based proteomic comparison of BirA-SMN, BirA-SMN-Y109C and BirA proxisomes.
DescriptionAlthough recent advances in gene therapy provide hope for spinal muscular atrophy (SMA) patients, the pathology remains the leading genetic cause of infant mortality. SMA is a monogenic pathology that originates from the loss of the SMN1 gene in most cases or mutations in rare cases. Interestingly, SMN1 mutations occur broadly either within the TUDOR methyl-arginine (Rme) reader domain of SMN or its carboxy terminal oligomerization domain. We hypothesized that in SMN1 mutant cases, SMA may emerge from aberrant protein-protein interactions between SMN and key neuronal factors. Using a proximity-dependent biotinylation proteomic (BioID) approach, we have identified and validated a number of SMN-interacting proteins, including Fragile X mental retardation family members (FMRFM), such as FMRP itself as well as FXR1 and FXR2, some depending on a wild-type version of the TUDOR domain.
HostingRepositoryPRIDE
AnnounceDate2023-11-14
AnnouncementXMLSubmission_2023-11-14_07:55:32.576.xml
DigitalObjectIdentifierhttps://dx.doi.org/10.6019/PXD030970
ReviewLevelPeer-reviewed dataset
DatasetOriginOriginal dataset
RepositorySupportSupported dataset by repository
PrimarySubmitterYohann Couté
SpeciesList scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationListbiotinylated residue; acetylated residue; monohydroxylated residue; iodoacetamide derivatized residue
InstrumentQ Exactive HF
Dataset History
RevisionDatetimeStatusChangeLog Entry
02022-01-14 08:26:36ID requested
12022-10-19 03:08:24announced
22023-11-14 07:55:33announced2023-11-14: Updated project metadata.
Publication List
Binda O, Juillard F, Ducassou JN, Kleijwegt C, Paris G, Didillon A, Baklouti F, Corpet A, Cout, é Y, C, ô, t, é J, Lomonte P, SMA-linked SMN mutants prevent phase separation properties and SMN interactions with FMRP family members. Life Sci Alliance, 6(1):(2023) [pubmed]
Keyword List
submitter keyword: Survival Motor Neuron (SMN),Spinal Muscle Atrophy (SMA), BioID, nanoLC-MS/MS
Contact List
Yohann Couté
contact affiliationEDyP
contact emailyohann.coute@cea.fr
lab head
Yohann Couté
contact affiliationEDyP
contact emailyohann.coute@cea.fr
dataset submitter
Full Dataset Link List
Dataset FTP location
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