Results 41 to 50 of about 634,892 (192)

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 and coilin negatively regulate dyskerin association with telomerase RNA

Biology Open, 2016
Telomerase is a ribonucleoprotein comprising telomerase RNA and associated proteins. The formation of the telomerase holoenzyme takes place in the Cajal body (CB), a subnuclear domain that participates in the formation of ribonucleoproteins.
Aaron R. Poole, Michael D. Hebert
doaj   +1 more source

SAM68 is a physiological regulator of SMN2 splicing in spinal muscular atrophy [PDF]

, 2015
Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by loss of motor neurons in patients with null mutations in the SMN1 gene. The almost identical SMN2 gene is unable to compensate for this deficiency because of the skipping of exon 7 ...
Annalisa Nobili, Antonio Musarò, Arnold, Biamonte, Bianchi, Bielli, Bielli, Bose, Branchu, Bricceno, Burnett, Bäumer, Cai, Chen, Cho, Claudio Sette, Ehrmann, Feng, Fu, Galarneau, Hofmann, Hofmann, Hua, Huot, Iascone, Iijima, Kashima, Kashima, Laura Pelosi, Le, Li, Ling, Lorson, Lukong, Mammucari, Marcello D’Amelio, Maria Blaire Bustamante, Maria Grazia Berardinelli, Mende, Nurputra, Paronetto, Paronetto, Pedrotti, Pedrotti, Richard, Ruggiu, Shababi, Singh, Vittoria Pagliarini, Wahl, West, Zhang   +51 more
core   +2 more sources

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

WDR79/TCAB1 plays a conserved role in the control of locomotion and ameliorates phenotypic defects in SMA models [PDF]

, 2017
SMN (Survival Motor Neuron) deficiency is the predominant cause of spinal muscular atrophy (SMA), a severe neurodegenerative disorder that can lead to progressive paralysis and death.
Bavasso, Francesca, Cacchione, Stefano, DI GIORGIO, MARIA LAURA, Esposito, Alessandro, Feiguin, Fabian, Gallotta, Ivan, Maccallini, Paolo, Mccabe, Brian D., Micheli, Emanuela, Raffa, GRAZIA DANIELA, Schiavi, Elia Di, Verni', Fiammetta   +11 more
core   +1 more source

Abnormal motoneuron migration, differentiation, and axon outgrowth in spinal muscular atrophy [PDF]

, 2008
The role of heterotopic (migratory) motoneurons (HMN) in the pathogenesis of spinal muscular atrophy (SMA) is still controversial. We examined the occurrence and amount of HMN in spinal cord tissue from eight children with SMA (six with SMA-I and two ...
Barišić, Nina, Hof, Patrick R., Islam, Atiqul, Jovanov Milošević, Nataša, Krušlin, Božo, Lucassen, Paul J., Mladinov, Mihovil, Pajtak, Alen, Sertić, Jadranka, Šešo Šimić, Đurđica, Šimić, Goran   +10 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

Label-free proteomics identifies Calreticulin and GRP75/Mortalin as peripherally accessible protein biomarkers for spinal muscular atrophy [PDF]

, 2013
BACKGROUND: Spinal muscular atrophy (SMA) is a neuromuscular disease resulting from mutations in the survival motor neuron 1 (SMN1) gene. Recent breakthroughs in preclinical research have highlighted several potential novel therapies for SMA, increasing ...
Gillingwater, T. H., Hunter, G., Lamont, D. J., Mutsaers, C. A., Wishart, T. M.   +4 more
core   +3 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

eEF1Bγ binds the Che-1 and TP53 gene promoters and their transcripts [PDF]

, 2016
Background: We have previously shown that the eukaryotic elongation factor subunit 1B gamma (eEF1Bγ) interacts with the RNA polymerase II (pol II) alpha-like subunit “C” (POLR2C), alone or complexed, in the pol II enzyme. Moreover, we demonstrated that
Ammassari-teule, Martine, Borreca, Antonella, Corbi, Nicoletta, DELLE MONACHE, Francesca, Di Certo, Maria Grazia, Fanciulli, Maurizio, Gabanella, Francesca, Onori, Annalisa, Passananti, Claudio, Pisani, Cinzia   +9 more
core   +1 more source