Here, we summarize what is known about the normal function of these proteins and how the mutations alter the splicing landscape of the genome. We also summarize the commonly mis-spliced gene targets and discuss the state of mechanistic unification that has been achieved. Finally, we discuss ...
Our work provides an example of how alternative splicing provides a means to tissue-specifically control the material properties of biomolecular assemblies to ensure that key biological activities are properly regulated in different contexts41,42,43. In addition, it reveals how mis-splicing can alter ...
(2013) Pathological impact of SMN2 mis-splicing in adult SMA mice. EMBO Mol Med 5: 1586-1601.Sahashi K, Ling KKY, Hua Y, Wilkinson JE, Nomakuchi T, Rigo F, Hung G, Xu D, Jiang YP, Lin RZ, Ko CP, Bennett CF, Krainer AR. Pathological impact of SMN2 mis-splicing in adult ...
RNA mis-splicing causes a large array of human diseases due to hereditary and somatic mutations. Mis-splicing may result from mutations to RNAcis-regulatory elements, core spliceosomal components ortrans-acting regulatory factors. Mutations in some genes, such as lamin A (LMNA), cause multiple typ...
Variants of UNC13A, a critical gene for synapse function, increase the risk of amyotrophic lateral sclerosis and frontotemporal dementia1–3, two related neurodegenerative diseases defined by mislocalization of the RNA-binding protein TDP-434,5. Here we
摘要: A recent report reveals widespread mis-splicing of RNA transcripts in eukaryotes, with mis-spliced RNA destroyed by nonsense-mediated mRNA decay. This striking inefficiency deepens the mystery of the proliferation and persistence of introns....
Here, we leverage the Cas9-derived cytosine base editor to introduce precise C-to-T mutations to disrupt the highly conserved intron donor site GT or acceptor site AG, thereby inducing mRNA mis-splicing and gene disruption. As proof of concept, we successfully obtained Arabidopsis null mutant of...
All of these noncanonical splicing variants triggering pre-mRNA mis-splicing were predicted to introduce premature termination codons. Western blotting showed deficiency of full-length (94-kDa) and 60-kDa autolytic fragments of the calpain 3 protein in skeletal muscle samples from 4 probands.#Our ...
1995a. Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome. Hum Mol Genet 4:607-613.Wang M,Price CE,Han J,et al.Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal ... M Wang,CE Price,J Han,... - 《Human Molecular Genetics...
Our results suggest that NOTCH2 and FLT3 mis-splicing is a common characteristic of AML and has the potential to generate transcripts encoding proteins with altered function. Thus, splice variants of these genes might provide disease markers and targets for novel therapeutics....