Results 31 to 40 of about 303,737 (269)

The SC-35 Splicing Factor Interacts with RNA Pol II and A-Type Lamin Depletion Weakens This Interaction

Cells, 2021
The essential components of splicing are the splicing factors accumulated in nuclear speckles; thus, we studied how DNA damaging agents and A-type lamin depletion affect the properties of these regions, positive on the SC-35 protein.
Soňa Legartová, Paolo Fagherazzi, Lenka Stixová, Aleš Kovařík, Ivan Raška, Eva Bártová   +5 more
doaj   +1 more source

A Splice Variant in SLC16A8 Gene Leads to Lactate Transport Deficit in Human iPS Cell-Derived Retinal Pigment Epithelial Cells

Cells, 2021
Age-related macular degeneration (AMD) is a blinding disease for which most of the patients remain untreatable. Since the disease affects the macula at the center of the retina, a structure specific to the primate lineage, rodent models to study the ...
Laurence Klipfel, Marie Cordonnier, Léa Thiébault, Emmanuelle Clérin, Frédéric Blond, Géraldine Millet-Puel, Saddek Mohand-Saïd, Olivier Goureau, José-Alain Sahel, Emeline F. Nandrot, Thierry Léveillard   +10 more
doaj   +1 more source

N-Ethyl-N-Nitrosourea (ENU) Mutagenesis Reveals an Intronic Residue Critical for Caenorhabditis elegans 3′ Splice Site Function in Vivo

G3: Genes, Genomes, Genetics, 2016
Metazoan introns contain a polypyrimidine tract immediately upstream of the AG dinucleotide that defines the 3′ splice site. In the nematode Caenorhabditis elegans, 3′ splice sites are characterized by a highly conserved UUUUCAG/R octamer motif.
Omar A. Itani, Stephane Flibotte, Kathleen J. Dumas, Chunfang Guo, Thomas Blumenthal, Patrick J. Hu   +5 more
doaj   +1 more source

miRNA Enriched in Human Neuroblast Nuclei Bind the MAZ Transcription Factor and Their Precursors Contain the MAZ Consensus Motif

Frontiers in Molecular Neuroscience, 2017
While the cytoplasmic function of microRNA (miRNA) as post-transcriptional regulators of mRNA has been the subject of significant research effort, their activity in the nucleus is less well characterized.
Belinda J. Goldie, Belinda J. Goldie, Belinda J. Goldie, Chantel Fitzsimmons, Chantel Fitzsimmons, Judith Weidenhofer, Joshua R. Atkins, Joshua R. Atkins, Dan O. Wang, Dan O. Wang, Murray J. Cairns, Murray J. Cairns   +11 more
doaj   +1 more source

Case Report: Functional Investigation of an Undescribed Missense Variant Affecting Splicing in a Patient With Dravet Syndrome

Frontiers in Neurology, 2021
Pathogenic variants in the SCN1A gene are associated with a spectrum of epileptic disorders ranging in severity from familial febrile seizures to Dravet syndrome.
Peter Sparber, Svetlana Mikhaylova, Varvara Galkina, Yulia Itkis, Mikhail Skoblov   +4 more
doaj   +1 more source

Protein pyrophosphorylation by inositol pyrophosphates — detection, function, and regulation

FEBS Letters, EarlyView.
Protein pyrophosphorylation is an unusual signaling mechanism that was discovered two decades ago. It can be driven by inositol pyrophosphate messengers and influences various cellular processes. Herein, we summarize the research progress and challenges of this field, covering pathways found to be regulated by this posttranslational modification as ...
Sarah Lampe, Tanmay Kumar Mohanty, Rashna Bhandari, Dorothea Fiedler   +3 more
wiley   +1 more source

PPP3CB overexpression mediates EGFR TKI resistance in lung tumors via calcineurin/MEK/ERK signaling

Life Science Alliance
A triple osimertinib/calcineurin A/trametinib combination of treatment overcomes acquired resistance to EGFR TKI in EGFR-mutant lung adenocarcinoma cells that overexpress PPP3CB.
Sylvie Gazzeri, Nadiia Zubchuk, Elodie Montaudon, Fariba Nemati, Sarah Huot-Marchand, Giulia Berardi, Amelie Pucciarelli, Yassir Dib, Dylan Nerini, Christiane Oddou, Mylène Pezet, Laurence David-Boudet, Camille Ardin, Florence de Fraipont, Antonio Maraver, Nicolas Girard, Didier Decaudin, Anne-Claire Toffart, Beatrice Eymin   +18 more
doaj   +1 more source

Modeling Myeloid Malignancies Using Zebrafish

Frontiers in Oncology, 2017
Human myeloid malignancies represent a substantial disease burden to individuals, with significant morbidity and death. The genetic underpinnings of disease formation and progression remain incompletely understood.
Kathryn S. Potts, Kathryn S. Potts, Teresa V. Bowman, Teresa V. Bowman, Teresa V. Bowman   +4 more
doaj   +1 more source

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

FEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source

Valosin‐containing protein counteracts ATP‐driven dissolution of FUS condensates through its ATPase activity in vitro

FEBS Letters, EarlyView.
Biomolecular condensates formed by fused in sarcoma (FUS) are dissolved by high ATP concentrations yet persist in cells. Using a reconstituted system, we demonstrate that valosin‐containing protein (VCP), an AAA+ ATPase, counteracts ATP‐driven dissolution of FUS condensates through its D2 ATPase activity.
Hitomi Kimura, Shin‐ichi Tate, Kyota Yasuda   +2 more
wiley   +1 more source