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 +7 more sources
Functional mammalian spliceosomal complex E contains SMN complex proteins in addition to U1 and U2 snRNPs [PDF]
Nucleic Acids Research, 2011 Spliceosomes remove introns from primary gene transcripts. They assemble de novo on each intron through a series of steps that involve the incorporation of five snRNP particles and multiple non-snRNP proteins.
Evgeny M. Makarov +3 more
semanticscholar +8 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.
Amelie K. Gubitz +5 more
semanticscholar +6 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 The 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 ...
Rebecca Cacciottolo +6 more
semanticscholar +5 more sources
Composition of the Survival Motor Neuron (SMN) Complex in Drosophila melanogaster [PDF]
G3: Genes, Genomes, Genetics, 2019 Spinal Muscular Atrophy (SMA) is caused by homozygous mutations in the human survival motor neuron 1 (SMN1) gene. SMN protein has a well-characterized role in the biogenesis of small nuclear ribonucleoproteins (snRNPs), core components of the spliceosome.
A. Gregory Matera +9 more
doaj +6 more sources
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.
Jonathan Bizarro +8 more
semanticscholar +4 more sources
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).
Anne-Sophie Gribling-Burrer +10 more
semanticscholar +6 more sources
Proteomic analysis of the SMN complex reveals conserved and etiologic connections to the proteostasis network [PDF]
Frontiers in RNA ResearchIntroductionMolecular chaperones and co-chaperones are highly conserved cellular components that perform a variety of duties related to the proper three-dimensional folding of the proteome.
A. Gregory Matera +8 more
doaj +3 more sources
The SMN complex drives structural changes in human snRNAs to enable snRNP assembly
Nature Communications, 2023 Spliceosomal snRNPs are multicomponent particles that undergo a complex maturation pathway. Human Sm-class snRNAs are generated as 3′-end extended precursors, which are exported to the cytoplasm and assembled together with Sm proteins into core RNPs by ...
Josef Pánek +9 more
doaj +2 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.
Qing Liu +3 more
semanticscholar +4 more sources