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- W2753146717 abstract "Abstract Spinal Muscular Atrophy (SMA) is an inherited neurodegenerative condition caused by reduction in functional Survival Motor Neurones Protein (SMN). SMN has been implicated in transport of mRNA in neural cells for local translation. We previously identified microtubule-dependant mobile vesicles rich in SMN and the splicing factor SmB, a member of the Sm protein family, in neural cells. By comparing the proteome of SmB to that of SmN, a neural-specific Sm protein, we now show that the essential neural protein neurochondrin (NCDN) interacts with Sm proteins and SMN in the context of mobile vesicles in neurites. NCDN has roles in protein localisation in neural cells, and in maintenance of cell polarity. NCDN is required for the correct localisation of SMN, suggesting they may both be required for formation and transport of trafficking vesicles. NCDN provides a potential therapeutic target for SMA together with, or in place of, those targeting SMN expression." @default.
- W2753146717 created "2017-09-15" @default.
- W2753146717 creator A5022976226 @default.
- W2753146717 creator A5038228221 @default.
- W2753146717 creator A5044123043 @default.
- W2753146717 creator A5048328219 @default.
- W2753146717 creator A5073769335 @default.
- W2753146717 date "2017-09-01" @default.
- W2753146717 modified "2023-09-27" @default.
- W2753146717 title "Neurochondrin interacts with the SMN protein suggesting a novel mechanism for Spinal Muscular Atrophy pathology" @default.
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