Results 31 to 40 of about 10,068 (192)

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

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

SMN complex member Gemin3 self-interacts and has a functional relationship with ALS-linked proteins TDP-43, FUS and Sod1 [PDF]

Scientific Reports, 2019
AbstractThe 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 the multiprotein SMN complex that includes the DEAD-box RNA helicase Gemin3/DDX20/DP103 ...
Rebecca Cacciottolo, Joanna Ciantar, Maia Lanfranco, Rebecca M. Borg, Neville Vassallo, Rémy Bordonné, Ruben J. Cauchi   +6 more
openaire   +3 more sources

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

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

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

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

Structural basis for the recognition of spliceosomal SmN/B/B’ proteins by the RBM5 OCRE domain in splicing regulation

eLife, 2016
The multi-domain splicing factor RBM5 regulates the balance between antagonistic isoforms of the apoptosis-control genes FAS/CD95, Caspase-2 and AID. An OCRE (OCtamer REpeat of aromatic residues) domain found in RBM5 is important for alternative splicing
André Mourão, Sophie Bonnal, Komal Soni, Lisa Warner, Rémy Bordonné, Juan Valcárcel, Michael Sattler   +6 more
doaj   +1 more source

Pseudophosphorylated αB-crystallin is a nuclear chaperone imported into the nucleus with help of the SMN complex. [PDF]

PLoS ONE, 2013
The human small heat shock protein αB-crystallin (HspB5) is a molecular chaperone which is mainly localized in the cytoplasm. A small fraction can also be found in nuclear speckles, of which the localization is mediated by successional phosphorylation at
John den Engelsman, Chantal van de Schootbrugge, Jeongsik Yong, Ger J M Pruijn, Wilbert C Boelens   +4 more
doaj   +1 more source