Disease-associated mutation in SRSF2 misregulates splicing by altering RNA binding affinities

ChEBI2015-08-10 更新2026-07-12 收录

RNA剪接调控

基因突变功能分析

数据链接：

https://www.ebi.ac.uk/biostudies/ArrayExpress/studies/E-GEOD-71299 数据链接链接失效反馈

官方服务：

资源简介：

Disease-associated mutation in SRSF2 misregulates splicing by altering RNA binding affinities

创建时间：

2015-08-10

C9ORF72 GGGGCC expanded repeats produce splicing dysregulation which correlates with disease severity in amyotrophic lateral sclerosis [HuEx-1_0-st]

神经退行性分子机制

RNA剪接调控

Objective: An intronic GGGGCC-repeat expansion of C9ORF72 is the most common genetic variant of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. The mechanism of neurodegeneration is u

NIAID Data Ecosystem50

Integrative genome-wide analysis reveals cooperative regulation of alternative splicing by hnRNP proteins (RNA-Seq)

RNA剪接调控

hnRNP蛋白功能

Understanding how RNA binding proteins control the splicing code is fundamental to human biology and disease. Here we present a comprehensive study to elucidate how heterogeneous nuclear ribonucleopar

NIAID Data Ecosystem40

An uncharacterized gene, C7orf26, identified from an autosomal dominant ocular disease functions in mRNA splicing. An uncharacterized gene, C7orf26, identified from an autosomal dominant ocular disease functions in mRNA splicing

RNA剪接调控

常染色体显性眼病

An uncharacterized gene, C7orf26 was expected to function with the integrator complex in mRNA splicing. To address the involvement of mRNA splicing, we performed microarray analysis of HeLa/C7orf26 si

NIAID Data Ecosystem30

The impact of Prp18p on splicing fidelity and efficiency in budding yeast

剪接保真度

RNA剪接调控

Fidelity of 3´-splice site (3´SS) selection by the spliceosome is critical for proper gene expression but is a daunting task considering the low complexity of the 3´SS consensus YAG. Here we show that

Alliance of Genome Resources40

Structure and Novel Functional Mechanism of Drosophila SNF in Sex-Lethal Splicing

RNA剪接调控

果蝇性别决定

Sans-fille (SNF) is the Drosophila homologue of mammalian general splicing factors U1A and U2B″, and it is essential in Drosophila sex determination. We found that, besides its ability to bind U1 snRN

NIAID Data Ecosystem30

Disease-associated mutation in SRSF2 misregulates splicing by altering RNA binding affinities

资源简介：

相关数据集