PXD030970-1

PXD030970 is an original dataset announced via ProteomeXchange.

Title	Mass spectrometry-based proteomic comparison of BirA-SMN, BirA-SMN-Y109C and BirA proxisomes.
Description	Although 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.
HostingRepository	PRIDE
AnnounceDate	2022-10-19
AnnouncementXML	Submission_2022-10-19_03:08:23.856.xml
DigitalObjectIdentifier	https://dx.doi.org/10.6019/PXD030970
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Supported dataset by repository
PrimarySubmitter	YohannCouté
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	biotinylated residue; acetylated residue; monohydroxylated residue; iodoacetamide derivatized residue
Instrument	Q Exactive HF

Revision	Datetime	Status	ChangeLog Entry
0	2022-01-14 08:26:36	ID requested
⏵ 1	2022-10-19 03:08:24	announced
2	2023-11-14 07:55:33	announced	2023-11-14: Updated project metadata.

Dataset with its publication pending

submitter keyword: Survival Motor Neuron (SMN),Spinal Muscle Atrophy (SMA), BioID, nanoLC-MS/MS

YohannCouté
contact affiliation	EDyP
contact email	yohann.coute@cea.fr
lab head
YohannCouté
contact affiliation	EDyP
contact email	yohann.coute@cea.fr
dataset submitter

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PRIDE project URI

• PRIDE
  1. PXD030970
     1. Label: PRIDE project
     2. Name: Mass spectrometry-based proteomic comparison of BirA-SMN, BirA-SMN-Y109C and BirA proxisomes.