Results 61 to 70 of about 10,068 (192)

Toward an assembly line for U7 snRNPs: interactions of U7-specific Lsm proteins with PRMT5 and SMN complexes.

The Journal of biological chemistry, 2005
The survival of motor neurons (SMN) complex mediates the assembly of small nuclear ribonucleoproteins (snRNPs) involved in splicing and histone RNA processing. A crucial step in this process is the binding of Sm proteins onto the SMN protein. For Sm B/B', D1, and D3, efficient binding to SMN depends on symmetrical dimethyl arginine (sDMA) modifications
Azzouz, T., Pillai, R., Däpp, C., Chari, A., Meister, G., Kambach, C., Fischer, U., Schümperli, D.   +7 more
openaire   +4 more sources

The Small-Molecule Flunarizine in Spinal Muscular Atrophy Patient Fibroblasts Impacts on the Gemin Components of the SMN Complex and TDP43, an RNA-Binding Protein Relevant to Motor Neuron Diseases

Frontiers in Molecular Biosciences, 2020
The motor neurodegenerative disease spinal muscular atrophy (SMA) is caused by alterations of the survival motor neuron 1 (SMN1) gene involved in RNA metabolism. Although the disease mechanisms are not completely elucidated, SMN protein deficiency leads to abnormal small nuclear ribonucleoproteins (snRNPs) assembly responsible for widespread splicing ...
Sapaly, Delphine, Delers, Perrine, Coridon, Jennifer, Salman, Badih, Letourneur, Franck, Dumont, Florent, Lefebvre, Suzie   +6 more
openaire   +3 more sources

GEMINs: Potential Therapeutic Targets for Spinal Muscular Atrophy?

Frontiers in Neuroscience, 2014
The motor neuron degenerative disease spinal muscular atrophy (SMA) remains one of the most frequently inherited causes of infant mortality. Afflicted patients loose the survival motor neuron 1 (SMN1) gene but retain one or more copies of SMN2, a ...
Rebecca eBorg, Ruben J Cauchi
doaj   +1 more source

The Cajal body protein p80-coilin forms a complex with the adenovirus L4-22K protein and facilitates the nuclear export of adenovirus mRNA

mBio, 2023
Cajal bodies (CBs) are major sub-nuclear structures in most eucaryotic cells. In human adenovirus 5 (Ad5) infection, CBs are reorganized into microfoci in the late phase of infection.
Laura White, Bilgi Erbay, G. Eric Blair
doaj   +1 more source

Enhanced expression of the central survival of motor neuron (SMN) protein during the pathogenesis of osteoarthritis [PDF]

, 2015
The identification of new components implicated in the pathogenesis of osteoarthritis (OA) might improve our understanding of the disease process.
Cucchiarini, Magali, Madry, Henning, Terwilliger, Ernest F   +2 more
core   +1 more source

Accurate prediction of peptide binding sites on protein surfaces. [PDF]

PLoS Computational Biology, 2009
Many important protein-protein interactions are mediated by the binding of a short peptide stretch in one protein to a large globular segment in another.
Evangelia Petsalaki, Alexander Stark, Eduardo García-Urdiales, Robert B Russell, Robert B Russell   +4 more
doaj   +1 more source

Binding to SMN2 pre-mRNA-protein complex elicits specificity for small molecule splicing modifiers [PDF]

, 2017
Small molecule splicing modifiers have been previously described that target the general splicing machinery and thus have low specificity for individual genes. Several potent molecules correcting the splicing deficit of the SMN2 (survival of motor neuron
Allain, F. H., Augustin, A., Banfai, B., Berntenis, N., Birrer, P., Campagne, S., Clery, A., Duran-Pacheco, G., Ebeling, M., Giroud, N., Golling, S., Heckel, T., Hsiu Liu, Y., Huber, S., Hug, M. N., Khawaja, S., Krainer, A. R., Lamerz, J., Luebbers, T., McCarthy, K. D., Meier, S., Meistermann, H., Metzger, F., Moursy, A., Paushkin, S., Ratni, H., Schmucki, R., Sivaramakrishnan, M., Tzouros, M.   +28 more
core   +1 more source

A motor function for the DEAD-box RNA helicase, Gemin3, in Drosophila.

PLoS Genetics, 2008
The survival motor neuron (SMN) protein, the determining factor for spinal muscular atrophy (SMA), is complexed with a group of proteins in human cells. Gemin3 is the only RNA helicase in the SMN complex.
Ruben J Cauchi, Kay E Davies, Ji-Long Liu   +2 more
doaj   +1 more source

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane, Giorgia Coratti, Chiara Cutrì, Antonio Varone, Riccardo Masson, Adele D'Amico, Valeria Sansone, Sonia Messina, Federica Ricci, Chiara Ticci, Claudio Bruno, Caterina Agosto, Francesca Benedetti, Antonella Pini, Sabrina Siliquini, Massimiliano Filosto, Alberto Zambon, Ilaria Bitetti, Maria Rosaria Manna, Claudia Dosi, Riccardo Zanin, Stefano Parravicini, Roberto De Sanctis, Giulia Stanca, Michela Catteruccia, Michele Tosi, Irene Mizzoni, Emilio Albamonte, Valentina Franchino, Maria Sframeli, Ilaria Cavallina, Elena Procopio, Michele Sacchini, Simone Morando, Noemi Brolatti, Federica Trucco, Gaia Scarpini, Elena Briganti, Beatrice Berti, Concetta Palermo, Daniela Leone, Stefano C. Previtali, Eugenio Mercuri, the ITASMAC working group   +43 more
wiley   +1 more source

Conserved requirement for DEAD-box RNA helicase Gemin3 in Drosophila oogenesis [PDF]

, 2012
Background: DEAD-box RNA helicase Gemin3 is an essential protein since its deficiency is lethal in both vertebrates and invertebrates. In addition to playing a role in transcriptional regulation and RNA silencing, as a core member of the SMN (survival of
Cauchi, Ruben J.
core   +3 more sources