Results 31 to 40 of about 5,400 (185)

FUS-SMN Protein Interactions Link the Motor Neuron Diseases ALS and SMA [PDF]

, 2012
Mutations in the RNA binding protein FUS cause amyotrophic lateral sclerosis (ALS), a fatal adult motor neuron disease. Decreased expression of SMN causes the fatal childhood motor neuron disorder spinal muscular atrophy (SMA).
Das, Rita, Maniatis, Tom, Sharma, A, Yan, Biao, Tapia, JC, Gygi, Steve P., Monica A. Carrasco, Shneider, NA, Nishimura, AL, Chen, Shi, Yu, Yong, Sharma, Aarti, Yan, B, Gygi, SP, Christopher E. Shaw, Yamazaki, T, Steve P. Gygi, Siddharthan Chandran, Reed, Robin, Yu, Y, Aarti Sharma, Reed, R, Yong Yu, Rita Das, Das, R, Carrasco, Monica A., Zhai, Bo, Shneider, Neil A., Chen, S, Juan C. Tapia, Tapia, Juan C., Agnes Lumi Nishimura, Lalancette-Hebert, Melanie, Haertlein, TC, Tom Maniatis, Lalancette-Hebert, M, Biao Yan, Carrasco, MA, Neil A. Shneider, Yamazaki, Tomohiro, Nishimura, Agnes Lumi, Sullivan, G, Maniatis, T, Shaw, Christopher E., Shi Chen, Zhai, B, Melanie Lalancette-Hebert, Sullivan, Gareth, Tyler C. Haertlein, Shaw, CE, Chandran, S, Haertlein, Tyler C., Tomohiro Yamazaki, Gareth Sullivan, Robin Reed, Bo Zhai, Chandran, Siddharthan   +56 more
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Identification and structural analysis of the Schizosaccharomyces pombe SMN complex

, 2021
The macromolecular SMN complex facilitates the formation of Sm-class ribonucleoproteins involved in mRNA processing (UsnRNPs). While biochemical studies have revealed key activities of the SMN complex, its structural investigation is lagging behind. Here
Grimm, Clemens, Viswanathan, Aravindan, Veepaschit, Jyotishman, Bordonne, Remy, Fischer, Utz   +4 more
core   +1 more source

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, Jeroen van Bergeijk, Yu-Wei Lee, Verena Lübben, Yvonne Schill, Hella Brinkmann, Andreas Ratzka, Michal K Stachowiak, Michael Hebert, Claudia Grothe, Peter Claus   +10 more
doaj   +1 more source

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, D, Bühler, B, Laggerbauer, M, Zobawa, F, Lottspeich, U, Fischer   +5 more
openaire   +2 more sources

Spinal muscular atrophy patient iPSC-derived motor neurons have reduced expression of proteins important in neuronal development [PDF]

, 2016
This work was supported by The RJAH Institute of Orthopaedics, UK (H.F.), The SMA Trust, UK (H.F.), Cedars-Sinai Institutional startup funds (D.S), California Institute for Regenerative Medicine Grant RT-02040 (D.S.), National Center for Advancing ...
Heidi R. Fuller, Andrew R. Gross, Kaus, Anjoscha, Morris, Glen, Sareen, Dhruv, Glenn E. Morris, Fuller, H, Shirran, Sally Lorna, Catherine H. Botting, Shirran, SL, Botting, Catherine Helen, Dhruv Sareen, Mandefro, Berhan, Botting, CH, Gross, AR, Berhan Mandefro, Fuller, Heidi, Sally L. Shirran, Sareen, S, Morris, GE, Anjoscha S. Kaus, Gross, Andrew, Mandefro, B, Kaus, AS   +23 more
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Changes in intranuclear mobility of mature snRNPs provide a mechanism for splicing defects in spinal muscular atrophy [PDF]

, 2012
This work was funded by the Wellcome Trust (grant ID WT078810MA)It is becoming increasingly clear that defects in RNA metabolism can lead to disease. Spinal muscular atrophy (SMA), a leading genetic cause of infant mortality, results from insufficient ...
Clelland, Allyson Kara, Bales, Alexandra Beatrice Elizabeth, Sleeman, Judith Elizabeth   +2 more
core   +1 more source

Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs.

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, Matthew E R Butchbach, Luciano Saieva, Claudia Carissimi, Arthur H M Burghes, Livio Pellizzoni   +5 more
doaj   +1 more source

Multiprotein Complexes of the Survival of Motor Neuron Protein SMN with Gemins Traffic to Neuronal Processes and Growth Cones of Motor Neurons [PDF]

The Journal of Neuroscience, 2006
Spinal muscular atrophy (SMA), a progressive neurodegenerative disease affecting motor neurons, is caused by mutations or deletions of theSMN1gene encoding the survival of motor neuron (SMN) protein. In immortalized non-neuronal cell lines, SMN has been shown to form a ribonucleoprotein (RNP) complex with Gemin proteins, which is essential for the ...
Honglai, Zhang, Lei, Xing, Wilfried, Rossoll, Hynek, Wichterle, Robert H, Singer, Gary J, Bassell   +5 more
openaire   +2 more sources

Crystal structure of TDRD3 and methyl-arginine binding characterization of TDRD3, SMN and SPF30. [PDF]

PLoS ONE, 2012
SMN (Survival motor neuron protein) was characterized as a dimethyl-arginine binding protein over ten years ago. TDRD3 (Tudor domain-containing protein 3) and SPF30 (Splicing factor 30 kDa) were found to bind to various methyl-arginine proteins including
Ke Liu, Yahong Guo, Haiping Liu, Chuanbing Bian, Robert Lam, Yongsong Liu, Farrell Mackenzie, Luis Alejandro Rojas, Danny Reinberg, Mark T Bedford, Rui-Ming Xu, Jinrong Min   +11 more
doaj   +1 more source

Proteomic and 3D structure analyses highlight the C/D box snoRNP assembly mechanism and its control [PDF]

, 2014
In vitro, assembly of box C/D small nucleolar ribonucleoproteins (snoRNPs) involves the sequential recruitment of core proteins to snoRNAs. In vivo, however, assembly factors are required (NUFIP, BCD1, and the HSP90–R2TP complex), and it is unknown ...
Franck Vandermoere, Ahmad, Yasmeen, Bertrand, Edouard, Bérengère Pradet-Balade, Leonhardt, Heinrich, Charron, Christophe, Hallais, Marie, Christophe Charron, Marie Hallais, Vandermoere, Franck, Jonathan Bizarro, Pradet-Balade, Berengere, Christiane Branlant, Yasmeen Ahmad, Chagot, Marie-Eve, Céline Verheggen, Lamond, Angus; id_orcid, Heinrich Leonhardt, Branlant, Christiane, Edouard Bertrand, Lamond, Angus, Charpentier, Bruno, Angus Lamond, Xavier Manival, Manival, Xavier, Marie-Eve Chagot, Westman, Belinda, Boulon, Severine, Belinda Westman, Séverine Boulon, Verheggen, Celine, Bruno Charpentier, Bizarro, Jonathan   +32 more
core   +1 more source