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- W4313238009 abstract "The deficiency of Survival Motor Neuron (SMN) protein causes Spinal Muscular Atrophy (SMA), a rare neuromuscular disease that affects different organs. SMN is a key player in RNA metabolism regulation. An intriguing aspect of SMN function is its relationship with plasma membrane-associated proteins. Here, we provide a first demonstration that SMN affects the ATP-binding cassette transporter A1, (ABCA1), a membrane protein critically involved in cholesterol homeostasis. In human fibroblasts, we showed that SMN associates to ABCA1 mRNA, and impacts its subcellular distribution. Consistent with the central role of ABCA1 in the efflux of free cholesterol from cells, we observed a cholesterol accumulation in SMN-depleted human fibroblasts. These results were also confirmed in a SMA type I patient-derived fibroblasts. These findings not only validate the intimate connection between SMN and plasma mem-brane-associated proteins, but also highlight a contribution of dysregulated cholesterol efflux in SMA pathophysiology." @default.
- W4313238009 created "2023-01-06" @default.
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- W4313238009 date "2022-12-29" @default.
- W4313238009 modified "2023-10-16" @default.
- W4313238009 title "SMN Deficiency Destabilizes ABCA1 Expression in Human Fibroblasts. Novel Insights in Pathophysiology of Spinal Muscular Atrophy" @default.
- W4313238009 doi "https://doi.org/10.20944/preprints202212.0558.v1" @default.
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