BMC Biology, 2020 Background Understanding the genetic modifiers of neurodegenerative diseases can provide insight into the mechanisms underlying these disorders. Here, we examine the relationship between the motor neuron disease spinal muscular atrophy (SMA), which is ...
Melissa B. Walsh +10 more
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NUFIP and the HSP90/R2TP chaperone bind the SMN complex and facilitate assembly of U4-specific proteins [PDF]
Nucleic Acids Research, 2015 The Sm proteins are loaded on snRNAs by the SMN complex, but how snRNP-specific proteins are assembled remains poorly characterized. U4 snRNP and box C/D snoRNPs have structural similarities. They both contain the 15.5K and proteins with NOP domains (PRP31 for U4, NOP56/58 for snoRNPs).
Bizarro, Jonathan +8 more
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Characterization of a gene encoding survival motor neuron (SMN)-related protein, a constituent of the spliceosome complex [PDF]
Human Molecular Genetics, 1998 Mutations in the gene encoding the Survival Motor Neuron (SMN) protein are responsible for autosomal recessive proximal spinal muscular atrophy (SMA). SMN orthologues have been identified in the nematode worm Caenorhabditis elegans and the yeast Schizosaccharomyces pombe but, to date, no human paralogues have been described.
K, Talbot +4 more
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Biomolecules, 2022 Survival motor neuron (SMN) is an essential and ubiquitously expressed protein that participates in several aspects of RNA metabolism. SMN deficiency causes a devastating motor neuron disease called spinal muscular atrophy (SMA).
Julio Franco-Espin +7 more
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SECIS-binding protein 2 interacts with the SMN complex and the methylosome for selenoprotein mRNP assembly and translation [PDF]
Nucleic Acids Research, 2017 Selenoprotein synthesis requires the co-translational recoding of a UGASec codon. This process involves an RNA structural element, called Selenocysteine Insertion Sequence (SECIS) and the SECIS binding protein 2 (SBP2). Several selenoprotein mRNAs undergo unusual cap hypermethylation by the trimethylguanosine synthase 1 (Tgs1), which is recruited by ...
Gribling-Burrer, Anne-Sophie +10 more
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Different Stability and Proteasome-Mediated Degradation Rate of SMN Protein Isoforms.
PLoS ONE, 2015 The key pathogenic steps leading to spinal muscular atrophy (SMA), a genetic disease characterized by selective motor neuron degeneration, are not fully clarified.
Denise Locatelli +8 more
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SMN and coilin negatively regulate dyskerin association with telomerase RNA
Biology Open, 2016 Telomerase is a ribonucleoprotein comprising telomerase RNA and associated proteins. The formation of the telomerase holoenzyme takes place in the Cajal body (CB), a subnuclear domain that participates in the formation of ribonucleoproteins.
Aaron R. Poole, Michael D. Hebert
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Pathogenesis of proximal autosomal recessive spinal muscular atrophy [PDF]
, 2008 Although it is known that deletions or mutations of the SMN1 gene on chromosome 5 cause decreased levels of the SMN protein in subjects with proximal autosomal recessive spinal muscular atrophy (SMA), the exact sequence of pathological events leading to ...
Šimić, Goran
core +1 more source
An in vivo genetic screen for genes involved in spliced leader trans-splicing indicates a crucial role for continuous de novo spliced leader RNP assembly [PDF]
, 2017 ACKNOWLEDGEMENTS Some strains were provided by the CGC, which is funded by NIH Office of Research Infrastructure Programs (P40 OD010440). We would also like to thank Prof.
Albrecht +54 more
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Regulation of neuronal differentiation by proteins associated with nuclear bodies. [PDF]
PLoS ONE, 2013 Nuclear bodies are large sub-nuclear structures composed of RNA and protein molecules. The Survival of Motor Neuron (SMN) protein localizes to Cajal bodies (CBs) and nuclear gems.
Benjamin Förthmann +10 more
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