Results 41 to 50 of about 540 (209)
MBNL splicing activity depends on RNA binding site structural context [PDF]
Nucleic Acids Research, 2018 Muscleblind-like (MBNL) proteins are conserved RNA-binding factors involved in alternative splicing (AS) regulation during development. While AS is controlled by distribution of MBNL paralogs and isoforms, the affinity of these proteins for specific RNA-binding regions and their location within transcripts, it is currently unclear how RNA structure ...
Katarzyna Taylor +5 more
openaire +2 more sources
Features generated for computational splice-site prediction correspond to functional elements
BMC Bioinformatics, 2007 Background Accurate selection of splice sites during the splicing of precursors to messenger RNA requires both relatively well-characterized signals at the splice sites and auxiliary signals in the adjacent exons and introns.
Wilbur W John +3 more
doaj +1 more source
RNA variant identification discrepancy among splice-aware alignment algorithms. [PDF]
PLoS ONE, 2018 Next-generation sequencing (NGS) techniques have been generating various molecular maps, including transcriptomes via RNA-seq. Although the primary purpose of RNA-seq is to quantify the expression level of known genes, RNA variants are also identifiable.
Ji Hyung Hong, Yoon Ho Ko, Keunsoo Kang
doaj +1 more source
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
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 +2 more
wiley +1 more source
RNA splicing: a split consensus reveals two major 5′ splice site classes
Open BiologyThe established consensus sequence for human 5′ splice sites masks the presence of two major splice site classes defined by preferential base-pairing potentials with either U5 snRNA loop 1 or the U6 snRNA ACAGA box. The two 5′ splice site classes are separable in genome sequences, sensitized by specific genotypes and associated with splicing complexity.
Parker, MT, Fica, SM, Simpson, GG
openaire +6 more sources
FEBS Letters, EarlyView.Embryo‐like structures (stembryos) are an innovative tool, but they are hindered by experimental variability and limited developmental potential. DNA methylation is crucial for mammalian development, but its status in stembryo models is poorly characterized.
Sara Canil +4 more
wiley +1 more source
Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1
Molecular Therapy: Nucleic Acids, 2016 Inherited optic neuropathies (ION) present an important cause of blindness in the European working-age population. Recently we reported the discovery of four independent families with deep intronic mutations in the main inherited optic neuropathies gene ...
Tobias Bonifert +6 more
doaj +1 more source
FEBS Letters, EarlyView.Inositol pyrophosphates are energy‐rich signaling molecules that perform critical functions in cells. Three different families of phosphatases hydrolyze the β phosphate of the inositol pyrophosphate molecules: two have narrow specificities and one is promiscuous.
Ronda J. Rolfes
wiley +1 more source
eLife, 2015 U1 snRNP binds to the 5′ exon-intron junction of pre-mRNA and thus plays a crucial role at an early stage of pre-mRNA splicing. We present two crystal structures of engineered U1 sub-structures, which together reveal at atomic resolution an almost ...
Yasushi Kondo +3 more
doaj +1 more source