Results 31 to 40 of about 9,361 (152)

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 ...
Badih Salman, Delphine Sapaly, Perrine Delers, Florent Dumont, Jennifer Coridon, S. Lefebvre, Franck Letourneur   +6 more
openaire   +3 more sources

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

Composition of the Survival Motor Neuron (SMN) complex in Drosophila melanogaster [PDF]

, 2018
Spinal Muscular Atrophy (SMA) is caused by homozygous mutations in the human survival motor neuron 1 (SMN1) gene. SMN protein has a well-characterized role in the biogenesis of small nuclear ribonucleoproteins (snRNPs), core components of the spliceosome.
Baillat, David, Droby, Gaith N., Gray, Kelsey M., Kelly, Jo A., Lamond, Angus I., Matera, A. Gregory, Raimer, Amanda C., Schmidt, Casey A., Ten Have, Sara, Wagner, Eric J.   +9 more
core   +3 more sources

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

Similarities between protein folding and granular jamming. [PDF]

, 2012
Grains and glasses, widely different materials, arrest their motions upon decreasing temperature and external load, respectively, in common ways, leading to a universal jamming phase diagram conjecture.
Andricioaei, Ioan, Jose, Prasanth P
core   +1 more source

Adverse prognosis gene expression patterns in metastatic castration‐resistant prostate cancer

Molecular Oncology, EarlyView.
We aggregated a cohort of 1012 mCRPC tissue samples from 769 patients and investigated the association of gene expression‐based pathways with clinical outcomes. Loss of AR signaling, high proliferation, and a glycolytic phenotype were independently prognostic for poor outcomes, and an adverse transcriptional feature score incorporating these pathways ...
Marina N. Sharifi, Eric Feng, Nicholas R. Rydzewski, Amy K. Taylor, Jamie M. Sperger, Yue Shi, Kyle T. Helzer, Matthew L. Bootsma, Viridiana Carreno, Alex H. Chang, Luke A. Nunamaker, Grace C. Blitzer, Tianfu Andy Shang, Aishwarya Subramanian, Anders Bjartell, Andreas Josefsson, Pernilla Wikström, Emily Feng, Manish Kohli, Rendong Yang, Scott M. Dehm, Eric J. Small, Rahul Aggarwal, David A. Quigley, Joshua M. Lang, Shuang G. Zhao, Martin Sjöström   +26 more
wiley   +1 more source

Ribonucleoprotein Assembly Defects Correlate with Spinal Muscular Atrophy Severity and Preferentially Affect a Subset of Spliceosomal snRNPs [PDF]

, 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 ...
A Levine, A Vincent, AA Patel, AA Patel, AG Matera, AL George Jr, AM Avila, Arthur H. M. Burghes, B Charroux, B Schrank, C Carissimi, C Carissimi, C Helmken, C Ogawa, C Winkler, CJ Sumner, CL Lorson, CL Lorson, Claudia Carissimi, D Buhler, DD Coovert, DD Licatalosi, F Gabanella, Francesca Gabanella, G Meister, G Meister, GM Alexander, H Zhang, HL Zhang, HM Hsieh-Li, J Yong, JD Lueck, JD Lueck, Juan Valcarcel, KA Montzka, KB Shpargel, L Pellizzoni, L Pellizzoni, L Pellizzoni, L Wan, Livio Pellizzoni, Luciano Saieva, M Fornerod, M Sendtner, Matthew E. R. Butchbach, ME Butchbach, MER Butchbach, ML McWhorter, MS Jurica, MT Flink, N Sheth, NA Faustino, NM Kuyumcu-Martinez, PE McAndrew, Q Liu, Q Wu, S Lefebvre, S Lefebvre, S Paushkin, T Frugier, T Frugier, TK Rajendra, TL Carrel, TO Crawford, TS Alioto, TT Le, U Fischer, UR Monani, UR Monani, UR Monani, UR Monani, W Feng, W Rossoll, Z Mourelatos   +73 more
core   +4 more sources

Multidimensional OMICs reveal ARID1A orchestrated control of DNA damage, splicing, and cell cycle in normal‐like and malignant urothelial cells

Molecular Oncology, EarlyView.
Loss of the frequently mutated chromatin remodeler ARID1A, a subunit of the SWI/SNF cBAF complex, results in less open chromatin, alternative splicing, and the failure to stop cells from progressing through the cell cycle after DNA damage in bladder (cancer) cells. Created in BioRender. Epigenetic regulators, such as the SWI/SNF complex, with important
Rebecca M. Schlösser, Florian Krumbach, Eyleen Corrales, Geoffroy Andrieux, Christian Preisinger, Franziska Liss, Alexandra Golzmann, Melanie Boerries, Kerstin Becker, Ruth Knüchel, Stefan Garczyk, Bernhard Lüscher   +11 more
wiley   +1 more source

Essential Protein Factors in pre-mRNA splicing : A Structural Study by Nuclear Magnetic Resonance Spectroscopy [PDF]

, 2002
This thesis describes two novel three-dimensional structures and the functional characterization of proteins that play important roles in eukaryotic RNA splicing.
Selenko, Philipp
core   +1 more source

Myostatin Levels in SMA Following Disease‐Modifying Treatments: A Multi‐Center Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study investigated myostatin levels in SMA patients receiving disease‐modifying therapies (DMTs) to understand their relationship with treatment duration and functional status. Methods Our study includes both cross‐sectional and longitudinal analyses of myostatin levels in treated SMA patients.
Fiorella Piemonte, Sara Petrillo, Anna Capasso, Giorgia Coratti, Adele D'Amico, Michela Catteruccia, Maria Carmela Pera, Concetta Palermo, Marika Pane, Emanuela Abiusi, Gianpaolo Cicala, Marianna Villa, Chiara Bravetti, Chiara Arpaia, Agnese Novelli, Salvatore Falqui, Stefania Fiori, Giulia Napoli, Silvia Baroni, Francesco Danilo Tiziano, Enrico Bertini, Giacomo Comi, Stefania Corti, Eugenio Mercuri   +23 more
wiley   +1 more source