Results 21 to 30 of about 5,400 (185)

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
openaire   +4 more sources

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
doaj   +1 more source

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
openaire   +2 more sources

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
doaj   +1 more source

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
openaire   +2 more sources

Sumoylation regulates the assembly and activity of the SMN complex [PDF]

, 2021
SMN is a ubiquitously expressed protein and is essential for life. SMN deficiency causes the neurodegenerative disease spinal muscular atrophy (SMA), the leading genetic cause of infant mortality.
Dermentzaki G., Hao L. T., Mentis G. Z., Delestree N., Rinchetti P., Przedborski S., Lotti F., Riboldi G. M., Kuwajima T., Beattie C. C., Corti S., De Planell-Saguer M., Faravelli I.   +12 more
core   +1 more source

SMN Is Physiologically Downregulated at Wild-Type Motor Nerve Terminals but Aggregates Together with Neurofilaments in SMA Mouse Models

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, Alaó Gatius, José Ángel Armengol, Saravanan Arumugam, Mehri Moradi, Michael Sendtner, Jordi Calderó, Lucia Tabares   +7 more
doaj   +1 more source

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, Mineko Terao, Mami Kurosaki, Maria Clara Zanellati, Daniela Rita Pletto, Adele Finardi, Francesca Colciaghi, Enrico Garattini, Giorgio Stefano Battaglia   +8 more
doaj   +1 more source

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
openaire   +2 more sources