Diverse expression of selected SMN complex proteins in humans with sporadic amyotrophic lateral sclerosis and in a transgenic rat model of familial form of the disease. [PDF]
PLoS ONE, 2014 BACKGROUND AND OBJECTIVE:There is circumstantial evidence linking sporadic amyotrophic lateral sclerosis (ALS) cases to a malfunction or deficit of a multimeric SMN complex that scrutinizes cellular RNAs; the core of this complex is survival motor neuron
Janina Rafałowska +4 more
doaj +5 more sources
Gemin5, a Novel WD Repeat Protein Component of the SMN Complex That Binds Sm Proteins [PDF]
Journal of Biological Chemistry, 2002 The survival of motor neurons (SMN) protein is the product of the disease gene of spinal muscular atrophy and is found both in the cytoplasm and the nucleus, where it is concentrated in gems. SMN is part of a multi-protein complex that includes Gemin2, Gemin3, and Gemin4.
Zissimos Mourelatos +2 more
exaly +4 more sources
The Gemin5 Protein of the SMN Complex Identifies snRNAs [PDF]
Molecular Cell, 2006 The survival of motor neurons protein (SMN) is part of a large complex that contains six other proteins, Gemins2-7. The SMN complex assembles the heptameric Sm protein core on small nuclear RNAs (snRNAs) and plays a critical role in the biogenesis of snRNPs, the major and essential components of mRNA splicing in eukaryotes.
Terrence Chi-Kong Lau +2 more
exaly +3 more sources
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.
Utz Fischer, Gideon Dreyfuss
exaly +3 more sources
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
Ruben J Cauchi +2 more
exaly +4 more sources
The U1 snRNP-specific protein U1C is a key regulator of SMN complex-mediated snRNP formation. [PDF]
J Biol ChemThe stability and abundance of spliceosomal small nuclear ribonucleoproteins (snRNPs) are determined by the assembly of an Sm protein ring (Sm core) on each snRNA, a process orchestrated by the survival of motor neurons (SMN) complex. While the role of the SMN complex as a chaperone is well-established, the mechanisms that regulate its activity remain ...
Ngu DM +10 more
europepmc +4 more sources
Anti-survival of motor neuron antibodies in rheumatic and musculoskeletal diseases: prevalence, clinical associations, and biomarker potential, with novel insights into disease activity in SLE [PDF]
Inflammation and RegenerationBackground Anti-survival of motor neuron (SMN) antibodies have recently been identified in rheumatic and musculoskeletal diseases (RMDs), notably mixed connective tissue disease (MCTD).
Yuki Imai +8 more
doaj +2 more sources
Tudor-based proteomic strategy pan-specifically enriches and identifies protein arginine methylation [PDF]
EMBO ReportsProtein arginine methylation is an important post-translational modification (PTM) in eukaryotes, regulating a variety of biological processes. Proteomic profiling of arginine methylation has advanced our understanding of its roles in biology and disease.
Lingzi Lu +10 more
doaj +2 more sources
Mechanism of assembly of snRNP cores assisted by ICln and the SMN complex in fission yeast
iScience, 2023 Summary: The spliceosomal snRNP cores, each comprised of a snRNA and a seven-membered Sm ring (D1/D2/F/E/G/D3/B), are assembled by twelve chaperoning proteins in human.
Yan Hu +7 more
doaj +1 more source
Genetic Interactions between the Members of the SMN-Gemins Complex in Drosophila. [PDF]
PLoS ONE, 2015 The SMN-Gemins complex is composed of Gemins 2-8, Unrip and the survival motor neuron (SMN) protein. Limiting levels of SMN result in the neuromuscular disorder, spinal muscular atrophy (SMA), which is presently untreatable.
Rebecca M Borg +3 more
doaj +1 more source