Search publications
3 results for “snRNP”
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Engineered U1 snRNAs to modulate alternatively spliced exons.
Methods (San Diego, Calif.) · 2022 · 205: 140-148
Alternative splicing accounts for a considerable portion of transcriptomic diversity, as most protein-coding genes are spliced into multiple mRNA isoforms. However, errors in splicing patterns can give rise to mis-splicing with pathological consequences, such as the congenital diseases familial dysautonomia, …
PMID 35764245 DOI ↗
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Loss of LUC7L2 and U1 snRNP subunits shifts energy metabolism from glycolysis to OXPHOS.
Molecular cell · 2021 · 81(9): 1905-1919.e12
Oxidative phosphorylation (OXPHOS) and glycolysis are the two major pathways for ATP production. The reliance on each varies across tissues and cell states, and can influence susceptibility to disease. At present, the full set of molecular mechanisms governing the relative …
PMID 33852893 DOI ↗
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ALS-causative mutations in FUS/TLS confer gain and loss of function by altered association with SMN and U1-snRNP.
Nature communications · 2015 · 6: 6171
The RNA-binding protein FUS/TLS, mutation in which is causative of the fatal motor neuron disease amyotrophic lateral sclerosis (ALS), is demonstrated to directly bind to the U1-snRNP and SMN complexes. ALS-causative mutations in FUS/TLS are shown to abnormally enhance their …
PMID 25625564 DOI ↗
Datasets 15
Inhibition of RNA splicing triggers CHMP7 nuclear entry impacting TDP-43 function and leading to onset of ALS (eCLIP).
Homo sapiens · GPL24676
Inhibition of RNA splicing triggers CHMP7 nuclear entry impacting TDP-43 function and leading to onset of ALS (RNA-Seq).
Homo sapiens · Illumina
RNA-seq on HepG2 cells treated with an shRNA knockdown against SNRNP70. (SNRNP70_BGHLV35)
Homo sapiens
RNA-seq on K562 cells treated with an shRNA knockdown against SNRNP200. (SNRNP200_BGKLV28)
Homo sapiens
RNA-seq on HepG2 cells treated with an shRNA knockdown against SNRNP200. (SNRNP200_BGHLV26)
Homo sapiens
ALS-causative mutations in FUS/TLS confer gain- and loss-of-function by altered association with SMN and U1-snRNP
Homo sapiens · GPL11154
Loss of LUC7L2 and U1 snRNP subunits shifts energy metabolism from glycolysis to OXPHOS
Homo sapiens · GPL16791
Biallelic mutations in the 3â exonuclease TOE1 cause Pontocerebellar Hypoplasia Type 7 and result in snRNA processing defects
Homo sapiens · GPL15520
Large-scale map of RNA binding protein interactomes across the mRNA life-cycle
Homo sapiens · GPL24676
Analyses 2
GSE157917 · 3 steps · RNA-Seq · code_examples
Loss of LUC7L2 and U1 snRNP subunits shifts energy metabolism from glycolysis to OXPHOS. (2021)
GSE64078 · 1 step · OTHER · code_examples
ALS-causative mutations in FUS/TLS confer gain and loss of function by altered association with SMN and U1-snRNP. (2015)