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- W4308997596 startingPage "e202201429" @default.
- W4308997596 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, several SMN1 mutations occur within the TUDOR methylarginine reader domain of SMN. We hypothesized that in SMN1 mutant cases, SMA may emerge from aberrant protein-protein interactions between SMN and key neuronal factors. Using a BioID proteomic approach, we have identified and validated a number of SMN-interacting proteins, including fragile X mental retardation protein (FMRP) family members (FMR FM ). Importantly, SMA-linked SMN TUDOR mutant forms (SMN ST ) failed to interact with FMR FM . In agreement with the recent work, we define biochemically that SMN forms droplets in vitro and these droplets are stabilized by RNA, suggesting that SMN could be involved in the formation of membraneless organelles, such as Cajal nuclear bodies. Finally, we found that SMN and FMRP co-fractionate with polysomes, in an RNA-dependent manner, suggesting a potential role in localized translation in motor neurons." @default.
- W4308997596 created "2022-11-20" @default.
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- W4308997596 date "2022-11-14" @default.
- W4308997596 modified "2023-09-26" @default.
- W4308997596 title "SMA-linked SMN mutants prevent phase separation properties and SMN interactions with FMRP family members" @default.
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- W4308997596 doi "https://doi.org/10.26508/lsa.202201429" @default.
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