Results 41 to 50 of about 366,865 (319)

Exon sequences at the splice junctions affect splicing fidelity and alternative splicing [PDF]

Proceedings of the National Academy of Sciences, 2009
Identification of splice sites is essential for the expression of most eukaryotic genes, allowing accurate splicing of pre-mRNAs. The splice sites are recognized by the splicing machinery based on sequences within the pre-mRNA. Here, we show that the exon sequences at the splice junctions play a significant, previously unrecognized role in the ...
Luciana B, Crotti, David S, Horowitz
openaire   +2 more sources

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

Neuronal cell type-specific alternative splicing is regulated by the KH domain protein SLM1 [PDF]

, 2014
The unique functional properties and molecular identity of neuronal cell populations rely on cell type-specific gene expression programs. Alternative splicing represents a powerful mechanism for expanding the capacity of genomes to generate molecular ...
Yoko Iijima, Scheiffele, Peter, Iijima, Takatoshi, Harald Witte, Witte, Harald, Takatoshi Iijima, Iijima, Yoko, Peter Scheiffele   +7 more
core   +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

Tetracycline aptamer-controlled regulation of pre-mRNA splicing in yeast

, 2007
Splicing of pre-mRNA is a critical step in mRNA maturation and disturbances cause several genetic disorders. We apply the synthetic tetracycline (tc)-binding riboswitch to establish a gene expression system for conditional tc-dependent control of pre ...
Weigand, Julia E., Suess, Beatrix, Weigand, Julia, Süß, Beatrix   +3 more
core   +1 more source

Unraveling the Molecular Mechanism of Splicing through Molecular Dynamics Simulation [PDF]

, 2021
The genes architecture as made of intron and exons is now a widely accepted fact and a well-established hypothesis. Indeed, the exons regions of a DNA molecule that code for proteins are not a continuous unitary sequence, but silent intervening segments (
Saltalamacchia, Andrea
core  

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

Functional coordination of alternative splicing in the mammalian central nervous system [PDF]

, 2007
BACKGROUND: Alternative splicing (AS) functions to expand proteomic complexity and plays numerous important roles in gene regulation. However, the extent to which AS coordinates functions in a cell and tissue type specific manner is not known.
Saltzman, A.L., Rozenhek, A., Christine Misquitta, Ofer Shai, Frey, B.J., Blencowe, B.J., Babak, T., Aviad Rozenhek, Misquitta, C., Mohammad, N., Zhang, W., Brendan J Frey, Lee, L., Arneet L Saltzman, Timothy R Hughes, Willaime-Morawek, S., Qun Pan, Leo Lee, Derek van der Kooy, Barash, Y., Wen Zhang, Yoseph Barash, Joanna Y Ip, Benjamin J Blencowe, Pan, Q., Matthew Fagnani, Sandrine Willaime-Morawek, van der Kooy, D., Naveed Mohammad, Fagnani, M., Shai, O., Hughes, T.R., Tomas Babak   +32 more
core   +1 more source