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
doaj +1 more source
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
openaire +4 more sources
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
doaj +1 more source
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
doaj +1 more source
The Spinal Muscular Atrophy Disease Gene Product, SMN, and Its Associated Protein SIP1 Are in a Complex with Spliceosomal snRNP Proteins [PDF]
Cell, 1997 Spinal muscular atrophy (SMA), one of the most common fatal autosomal recessive diseases, is characterized by degeneration of motor neurons and muscular atrophy. The SMA disease gene, termed Survival of Motor Neurons (SMN), is deleted or mutated in over 98% of SMA patients. The function of the SMN protein is unknown.
Liu, Qing +3 more
openaire +2 more sources
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
doaj +1 more source
Drosophila SMN complex proteins Gemin2, Gemin3, and Gemin5 are components of U bodies
Experimental Cell Research, 2010 Uridine-rich small nuclear ribonucleoproteins (U snRNPs) play key roles in pre-mRNA processing in the nucleus. The assembly of most U snRNPs takes place in the cytoplasm and is facilitated by the survival motor neuron (SMN) complex. Discrete cytoplasmic RNA granules called U bodies have been proposed to be specific sites for snRNP assembly because they
Cauchi, R, Sanchez-Pulido, L, Liu, J
openaire +3 more sources
Characterization of a nuclear 20S complex containing the survival of motor neurons (SMN) protein and a specific subset of spliceosomal Sm proteins [PDF]
Human Molecular Genetics, 2000 Spinal muscular atrophy (SMA) is a neurodegenerative disease of motor neurons caused by reduced levels of functional survival of motor neurons (SMN) protein. Cytoplasmic SMN directly interacts with spliceosomal Sm proteins and facilitates their assembly onto U snRNAs. Nuclear SMN, in contrast, mediates recycling of pre-mRNA splicing factors.
G, Meister +5 more
openaire +2 more sources
SMN complex member Gemin3 self-interacts and has a functional relationship with ALS-linked proteins TDP-43, FUS and Sod1 [PDF]
Scientific Reports, 2019 AbstractThe predominant motor neuron disease in infants and adults is spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS), respectively. SMA is caused by insufficient levels of the Survival Motor Neuron (SMN) protein, which operates as part of the multiprotein SMN complex that includes the DEAD-box RNA helicase Gemin3/DDX20/DP103 ...
Rebecca Cacciottolo +6 more
openaire +3 more sources
PLoS ONE, 2007 Spinal muscular atrophy (SMA) is a motor neuron disease caused by reduced levels of the survival motor neuron (SMN) protein. SMN together with Gemins2-8 and unrip proteins form a macromolecular complex that functions in the assembly of small nuclear ...
Francesca Gabanella +5 more
doaj +1 more source