SMN2 splice modulators enhance U1–pre-mRNA association and rescue SMA mice

J Palacino, SE Swalley, C Song, AK Cheung… - Nature chemical …, 2015 - nature.com
Spinal muscular atrophy (SMA), which results from the loss of expression of the survival of
motor neuron-1 (SMN1) gene, represents the most common genetic cause of pediatric …

RBPmap: a web server for mapping binding sites of RNA-binding proteins

I Paz, I Kosti, M Ares Jr, M Cline… - Nucleic acids …, 2014 - academic.oup.com
Regulation of gene expression is executed in many cases by RNA-binding proteins (RBPs)
that bind to mRNAs as well as to non-coding RNAs. RBPs recognize their RNA target via …

SRSF1-regulated alternative splicing in breast cancer

O Anczuków, M Akerman, A Cléry, J Wu, C Shen… - Molecular cell, 2015 - cell.com
Splicing factor SRSF1 is upregulated in human breast tumors, and its overexpression
promotes transformation of mammary cells. Using RNA-seq, we identified SRSF1-regulated …

Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease

K Sathasivam, A Neueder, TA Gipson… - Proceedings of the …, 2013 - National Acad Sciences
Huntington disease (HD) is a devastating, late-onset, inherited neurodegenerative disorder
that manifests with personality changes, movement disorders, and cognitive decline. It is …

What's wrong in a jump? Prediction and validation of splice site variants

G Riolo, S Cantara, C Ricci - Methods and Protocols, 2021 - mdpi.com
Alternative splicing (AS) is a crucial process to enhance gene expression driving organism
development. Interestingly, more than 95% of human genes undergo AS, producing multiple …

Predicting in vivo binding sites of RNA-binding proteins using mRNA secondary structure

X Li, G Quon, HD Lipshitz, Q Morris - Rna, 2010 - rnajournal.cshlp.org
While many RNA-binding proteins (RBPs) bind RNA in a sequence-specific manner, their
sequence preferences alone do not distinguish known target RNAs from other potential …

Splicing factor SRSF6 promotes hyperplasia of sensitized skin

MA Jensen, JE Wilkinson, AR Krainer - Nature structural & molecular …, 2014 - nature.com
Many biological processes involve gene-expression regulation by alternative splicing. Here,
we identify the splicing factor SRSF6 as a regulator of wound healing and tissue …

Global regulation of alternative splicing by adenosine deaminase acting on RNA (ADAR)

O Solomon, S Oren, M Safran, N Deshet-Unger… - Rna, 2013 - rnajournal.cshlp.org
Alternative mRNA splicing is a major mechanism for gene regulation and transcriptome
diversity. Despite the extent of the phenomenon, the regulation and specificity of the splicing …

Long non-coding RNA-dependent mechanism to regulate heme biosynthesis and erythrocyte development

J Liu, Y Li, J Tong, J Gao, Q Guo, L Zhang… - Nature …, 2018 - nature.com
In addition to serving as a prosthetic group for enzymes and a hemoglobin structural
component, heme is a crucial homeostatic regulator of erythroid cell development and …

Estimating the prevalence of functional exonic splice regulatory information

R Savisaar, LD Hurst - Human genetics, 2017 - Springer
In addition to coding information, human exons contain sequences necessary for correct
splicing. These elements are known to be under purifying selection and their disruption can …