Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 5 of 5 for “"Survival motor neuron (SMN)"”.
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ANALYSIS OF AXONAL TRANSPORT DEFECTS IN A ZEBRAFISH MODEL FOR SPINAL MUSCULAR ATROPHY
… disease caused by a deficiency of the survival motor neuron (SMN) protein. It is characterised by the progressive loss of α-motor neurons (MNs), leading to muscle weakness, atrophy, and in the worst cases death. SMN is a ubiquitously expressed protein that is involved in spliceosome …
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Examine the role of minor splicing pathway in spinal muscular atrophy
… caused by deletions or mutations of one gene, Survival Motor Neuron (SMN). SMN is crucial in splicing processes for proper gene expression. Previous studies showed a significant decrease in the levels of minor splicing (U12 intron) snRNPs in SMA mice and a restoration of a U12 intron-containing …
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Gene therapy in mouse models of spinal muscular atrophy :
… caused by the functional, homozygous loss of the Survival Motor Neuron-1 (SMN1) gene which encodes for the ubiquitously expressed Survival Motor Neuron (SMN) protein. Here we utilize SMA mouse models to demonstrate that self-complementary Adeno-associated virus encoding SMN1 (scAAV-SMN) is a …
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Novel RNA Targets of the Spinal Muscular Atrophy Protein
… best-studied examples of such a chaperone is the survival motor neuron (SMN) protein, the disease gene in spinal muscular atrophy (SMA). SMN is part of a macromolecular protein complex and catalyzes the assembly of a heptameric core of Sm proteins onto small nuclear RNAs (snRNAs) to form …
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SMN DEFICIENCY INDUCES NEUROACTIVE AMINOACIDS DYSMETABOLISM: BRIDGING INSIGHTS FROM PRECLINICAL MODELS TO CLINICAL EVIDENCE IN SMA PATIENTS
… mortality, driven by homozygous loss of the SMN1 gene and reduced SMN protein. Although disease-modifying therapies such as Nusinersen, Risdiplam, and Onasemnogene abeparvovec have markedly improved survival and motor outcomes, they are not curative, and many patients continue to exhibit …