Proteomics

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Mass spectrometry-based proteomic comparison of BirA-SMN, BirA-SMN-Y109C and BirA proxisomes.


ABSTRACT: 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.

INSTRUMENT(S): Q Exactive HF

ORGANISM(S): Homo Sapiens (human)

SUBMITTER: Yohann Couté  

LAB HEAD: Yohann Couté

PROVIDER: PXD030970 | Pride | 2022-10-19

REPOSITORIES: Pride

Dataset's files

Source:
Action DRS
BirA-SMN-Y109C_R1.mgf Mgf
BirA-SMN-Y109C_R1.raw Raw
BirA-SMN-Y109C_R2.mgf Mgf
BirA-SMN-Y109C_R2.raw Raw
BirA-SMN-Y109C_R3.mgf Mgf
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Publications

SMA-linked SMN mutants prevent phase separation properties and SMN interactions with FMRP family members.

Binda Olivier O   Juillard Franceline F   Ducassou Julia Novion JN   Kleijwegt Constance C   Paris Geneviève G   Didillon Andréanne A   Baklouti Faouzi F   Corpet Armelle A   Couté Yohann Y   Côté Jocelyn J   Lomonte Patrick P  

Life science alliance 20221114 1


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 <i>SMN1</i> gene in most cases or mutations in rare cases. Interestingly, several <i>SMN1</i> mutations occur within the TUDOR methylarginine reader domain of SMN. We hypothesized that in <i>SMN1</i> mutant cases, SMA may emerge from aberrant protein-protein interact  ...[more]

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