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Please use this identifier to cite or link to this item: http://hdl.handle.net/2108/963

Title: Ruolo funzionale e localizzazione sub-cellulare delle proteine Sm e Sm-like nei neuroni
Authors: Achsel, Tilmann
Di Penta, Alessandra
Keywords: snRNPs complex
LSm1-7 complex
mRNA transport
Issue Date: 30-Jul-2009
Abstract: Spinal muscular atrophy (SMA) is the most common genetic cause of childhood disease and results from selective loss of α motor neurons. SMA is caused by mutations or deletions of the telomeric copy of the survival motor neuron 1 gene (SMN1). This gene is fundamental for the assembly and regeneration of spliceosomal small nuclear ribonuclear proteins (snRNPs) in all cellular types. The mechanism by which SMN deletion is responsible of selective neuro-muscular defect and specific motor neurons degeneration is still unknown, even if some studies suggested an additional neuronspecific function of the protein. In this work, we investigated in neurons the role of SMN and LSm1 to LSm7, which is involved in mRNA degradation in HeLa cells and may well require the SMN protein for assembly and/or function. We constructed stable neuroblastoma cell lines by RNA interference that express low level of SMN protein and can be considered as a pathological model of SMA. We found that decreased...
Description: 19. ciclo
URI: http://hdl.handle.net/2108/963
Appears in Collections:Tesi di dottorato in medicina

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