Results 61 to 70 of about 366,865 (319)

Tau acetylation at K331 has limited impact on tau pathology in vivo

open access: yesFEBS Letters, EarlyView.
We mapped tau post‐translational modifications in humanized MAPT knock‐in mice and in amyloid‐bearing double knock‐in mice. Acetylation within the repeat domain, particularly around K331, showed modest increases under amyloid pathology. To test functional relevance, we generated MAPTK331Q knock‐in mice.
Shoko Hashimoto   +3 more
wiley   +1 more source

TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impact

open access: yesnpj Genomic Medicine
We investigated the role of TP53 splicing regulatory elements (SREs) using exons 3 and 6 and their downstream introns as models. Minigene microdeletion assays revealed four SRE-rich intervals: c.573_598, c.618_641, c.653_669 and c.672+14_672 + 36.
Daffodil M. Canson   +7 more
doaj   +1 more source

Stressful Splicing [PDF]

open access: yesMolecular Cell, 2007
A novel study in a recent issue of Molecular Cell (Shi and Manley, 2007) provides insight into a complex signaling pathway that controls the phosphorylation status of an SR-related protein that functions as a splicing repressor following heat shock-dependent dephosphorylation.
Guil, Sonia, Cáceres, Javier F.
openaire   +2 more sources

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

open access: yesFEBS 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

Changes in intranuclear mobility of mature snRNPs provide a mechanism for splicing defects in spinal muscular atrophy [PDF]

open access: yes, 2012
This work was funded by the Wellcome Trust (grant ID WT078810MA)It is becoming increasingly clear that defects in RNA metabolism can lead to disease. Spinal muscular atrophy (SMA), a leading genetic cause of infant mortality, results from insufficient ...
Clelland, Allyson Kara   +2 more
core   +1 more source

Splicing- mediated rescue in alleles with point mutations in rice.

open access: yes, 2022
RNA-seq data were collected from 55 downloaded datasets and 2 local sequenced O. rufipogon samples (SRR14163371, SRR14163372). The RNA-seq data were processed with the same pipeline described in the paper to obtain the splicing junctions of different (A)
Yanxiao Jia (6569447)   +8 more
core   +1 more source

Accurate Analysis of Crosstalk Between LP$_{11}$ Quasi-Degenerate Modes Due to Offset Connection Using True Eigenmodes

open access: yesIEEE Photonics Journal, 2018
Linearly polarized (LP) modes in few-mode fibers are not true eigenmodes but approximated modes constituting of linear combinations of true eigenmodes.
Seiya Miura   +2 more
doaj   +1 more source

Epigenetic blind spots – the role of DNA methylation dynamics in stem cell‐based models of embryogenesis

open access: yesFEBS 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

Modulation of Homer1 EVH1 domain internal dynamics by putative autism‐associated mutations

open access: yesFEBS Letters, EarlyView.
The putative autism‐associated M65I and S97L variants of the EVH1 domain of the postsynaptic scaffold protein Homer1 do not exhibit substantial changes in their overall structure or partner binding. Both of them, but especially the M65I variant, show altered internal dynamics relative to the wild‐type domain on the μs‐ms timescale, indicated by the ...
Fanni Farkas   +6 more
wiley   +1 more source

A splicing-dependent transcriptional checkpoint associated with prespliceosome formation

open access: yes, 2014
There is good evidence for functional interactions between splicing and transcription in eukaryotes, but how and why these processes are coupled remain unknown.
Chathoth, Keerthi T   +3 more
core   +1 more source

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