Results 11 to 20 of about 4,972 (128)

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. In mammals, all the intermediate complexes have been characterized on one transcript (MINX), with the exception of the very first, complex E. We
Makarov, E. M., Owen, N., Bottrill, A., Makarova, O. V.   +3 more
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Association of galectin-1 and galectin-3 with Gemin4 in complexes containing the SMN protein [PDF]

Nucleic Acids Research, 2001
In previous studies we showed that galectin-1 and galectin-3 are factors required for the splicing of pre-mRNA, as assayed in a cell-free system. Using a yeast two-hybrid screen with galectin-1 as bait, Gemin4 was identified as a putative interacting protein.
J W, Park, P G, Voss, S, Grabski, J L, Wang, R J, Patterson   +4 more
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A role for protein phosphatase PP1γ in SMN complex formation and subnuclear localization to Cajal bodies [PDF]

Journal of Cell Science, 2012
The spinal muscular atrophy (SMA) gene product SMN forms with Gemin2 to 8 and unrip the ubiquitous SMN complex that is required for the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs), their nuclear import and localization to subnuclear domain Cajal bodies (CBs). The concentration of the SMN complex and snRNPs in CBs are reduced upon
Renvoisé, B. (Benoît), Quérol, G. (Gwendoline), Verrier, E. (Eloi), Burlet, P. (Philippe), Lefebvre, S. (Suzie)   +4 more
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Presynaptic localization of Smn and hnRNP R in axon terminals of embryonic and postnatal mouse motoneurons. [PDF]

PLoS ONE, 2014
Spinal muscular atrophy (SMA) is caused by deficiency of the ubiquitously expressed survival motoneuron (SMN) protein. SMN is crucial component of a complex for the assembly of spliceosomal small nuclear ribonucleoprotein (snRNP) particles.
Benjamin Dombert, Rajeeve Sivadasan, Christian M Simon, Sibylle Jablonka, Michael Sendtner   +4 more
doaj   +1 more source

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, Adriana Roithová, Nenad Radivojević, Michal Sýkora, Archana Bairavasundaram Prusty, Nicholas Huston, Han Wan, Anna Marie Pyle, Utz Fischer, David Staněk   +9 more
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The distribution of SMN protein complex in human fetal tissues and its alteration in spinal muscular atrophy [PDF]

Human Molecular Genetics, 1998
Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder characterized by degeneration of motor neurons of the spinal cord and muscular atrophy. SMA is caused by alterations to the survival of motor neuron (SMN) gene, the function of which has hitherto been unclear.
P, Burlet, C, Huber, S, Bertrandy, M A, Ludosky, I, Zwaenepoel, O, Clermont, J, Roume, A L, Delezoide, J, Cartaud, A, Munnich, S, Lefebvre   +10 more
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SMN, the spinal muscular atrophy protein, forms a pre-import snRNP complex with snurportin1 and importin beta [PDF]

Human Molecular Genetics, 2002
The survival of motor neuron (SMN) protein is mutated in patients with spinal muscular atrophy (SMA). SMN is part of a multiprotein complex required for biogenesis of the Sm class of small nuclear ribonucleoproteins (snRNPs). Following assembly of the Sm core domain, snRNPs are transported to the nucleus via importin beta.
Usha, Narayanan, Jason K, Ospina, Mark R, Frey, Michael D, Hebert, A Gregory, Matera   +4 more
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Genetic modifiers ameliorate endocytic and neuromuscular defects in a model of spinal muscular atrophy

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, Eva Janzen, Emily Wingrove, Seyyedmohsen Hosseinibarkooie, Natalia Rodriguez Muela, Lance Davidow, Maria Dimitriadi, Erika M. Norabuena, Lee L. Rubin, Brunhilde Wirth, Anne C. Hart   +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, Dodré, Maxime, Huttin, Alexandra, Charpentier, Bruno, Schlotter, Florence, Branlant, Christiane, Verheggen, Céline, Massenet, Séverine, Bertrand, Edouard   +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, I, Miguel-Aliaga, P, Mohaghegh, C P, Ponting, K E, Davies   +4 more
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