Most human genes produce multiple protein isoforms through alternative splicing, with recent evidence showing these isoforms are widespread, biochemically distinct, and linked to disease.
- 6 cites
RNA Research and Splicing
Moving in EMBO Reports, Trends in Genetics.
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Lipid droplets induce aberrant alpha-synuclein phase separation, disrupting mitochondrial function and energy balance in Parkinson's disease models.
- Open access
- 2 cites
Latest in RNA Research and Splicing
Newest first · last 60 days
Nuclear stress-induced modification of NCBP1 at cysteine 436 causes alternative splicing of over 250 genes, including S6 kinase, leading to translation inhibition.
- Open access
- 1 cites
Deep learning genetic perturbation models outperform uninformative baselines when evaluated with calibrated metrics across multiple datasets.
- Open access
Plakophilin 1 (PKP1) suppresses keratinocyte innate immune responses by sequestering RNA helicases, preventing excessive inflammation in healthy skin cells.
- Open access
A human enhancer, eNMU, drives a 10,000-fold increase in NMU gene expression within native chromatin, revealing complex enhancer facilitation mechanisms.
- Open access
- 4 cites
NELF, MLLT1, MLLT3, and INT-PP2A are essential for somatic hypermutation by facilitating stalled PolII and AID targeting in B cells.
- Open access
- 1 cites
Programmable DNA protonuclei reveal that environmental factors like confinement and viscoelasticity critically influence FUS protein phase separation, with a significant impact on disease-related transitions.
- Open access
Single-cell APA profiling in 2 million human brain cells reveals cell-type-specific genetic regulation linked to neurodegenerative diseases, including Alzheimer’s and Parkinson’s.
- Open access
Cell surface RNA-binding proteins are emerging as potential biomarkers and immunotherapy targets, with specificities linked to cell type and disease, including cancer.
RO7589831, a WRN inhibitor, shows manageable safety and a 74.2% disease control rate in MSI solid tumors at doses of 150 mg and 600 mg BID.
- Open access
- 1 cites
IGF2BP1 directly binds HBG1/2 transcripts and activates HIC2, revealing a dual mechanism regulating fetal hemoglobin expression.
- Open access
- 1 cites
Cryo-EM structures reveal how Leishmania tarentolae trans-splices SL RNA, uncovering lineage-specific adaptations that enable SL exon ligation in trypanosomatids.
- Open access
DIS3's 3'-5' exoribonucleolytic activity is essential for resolving backtracked transcription complexes in Homo sapiens, facilitating efficient RNA polymerase II elongation.
- Open access
Integration of full-length mRNA sequencing and proteomics reveals approximately 14,000 protein isoforms in human cells, highlighting extensive proteome diversity.
- Open access
- 2 cites
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