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SC35 autoregulates its expression by promoting splicing events that destabilize its mRNAs
TLDR
It is shown that overexpression of SC35 in HeLa cells results in a significant decrease of endogenous SC35 mRNA levels along with changes in the relative abundance ofSC35 alternatively spliced mRNAs.
A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects
TLDR
These splicing assays represent a valuable tool for the interpretation of UVs and should contribute to the optimization of the molecular diagnosis of the Lynch syndrome and of other genetic diseases.
A key role for stress-induced satellite III transcripts in the relocalization of splicing factors into nuclear stress granules
TLDR
It is shown that the recruitment of the two serine/arginine-rich proteins SF2/ASF and SRp30c requires the presence of stress-induced satellite III transcripts, and the second RNA-recognition motif (RRM2) of hSF2/asF is identified as the motif required for the targeting to the granules.
Characterization of a Short Isoform of Human Tgs1 Hypermethylase Associating with Small Nucleolar Ribonucleoprotein Core Proteins and Produced by Limited Proteolytic Processing*
TLDR
The results suggest that proteasome maturation constitutes a mechanism regulating Tgs1 function by generating Tgs2 species with different substrate specificities, subcellular localizations, and functions.
Selective modification of alternative splicing by indole derivatives that target serine-arginine-rich protein splicing factors.
TLDR
Indole derivatives are discovered as potent inhibitors of the splicing reaction, opening the exciting possibility of a causal pharmacological treatment of aberrant splicing in human genetic disorders and development of new antiviral therapeutic approaches.
A potential splicing factor is encoded by the opposite strand of the trans-spliced c-myb exon.
TLDR
It is reported that a putative splicing factor (PR264) is encoded by the opposite strand of the c-myb trans-spliced exon, and that the relative proportion of the PR264 transcripts is developmentally regulated in chicken.
Impaired minor tri-snRNP assembly generates differential splicing defects of U12-type introns in lymphoblasts derived from a type I SMA patient.
TLDR
The results suggest that SMA might result from the inefficient splicing of one or only a few pre-mRNAs carrying minor introns and coding for proteins required for motor neurons function and/or organization.
The SR Protein SC35 Is Responsible for Aberrant Splicing of the E1α Pyruvate Dehydrogenase mRNA in a Case of Mental Retardation with Lactic Acidosis
TLDR
It is demonstrated that a novel mutation of the E1α PDH gene results in an increased binding of the SR protein SC35, which opens the exciting prospect for a novel therapy of an inherited disease by altering the level of a specific splicing factor.
The SR Family Proteins B52 and dASF/SF2 Modulate Development of the Drosophila Visual System by Regulating Specific RNA Targets
TLDR
Modulating the expression levels of five SR proteins in the developing eye of Drosophila melanogaster revealed that these splicing factors induce various phenotypic alterations in eye organogenesis and also affect viability.
Eye Development under the control of SRp55/B52-Mediated Alternative Splicing of eyeless
TLDR
The results suggest that B52/SRp55 splicing activity is used during normal eye development to control eye organogenesis and size through regulation of eyeless alternative splicing.
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