Antisense-mediated modulation of splicing: therapeutic implications for Duchenne muscular dystrophy.

Abstract:

:While disruption of alternative splicing underlies many diseases, modulation of splicing using antisense oligonucleotides (AONs) can have therapeutic implications. The most notable example is Duchenne muscular dystrophy (DMD), where antisense-mediated exon skipping can restore the open reading frame and allow the synthesis of partly functional dystrophin proteins instead of non-functional ones. This approach is currently tested in early phase clinical trials. In this review the development of the exon skipping approach in patient-derived cell cultures, animal models and patients is described and hurdles that have to be overcome to make this personalized medicine type approach widely applicable are discussed.

journal_name

RNA Biol

journal_title

RNA biology

authors

Aartsma-Rus A

doi

10.4161/rna.7.4.12264

subject

Has Abstract

pub_date

2010-07-01 00:00:00

pages

453-61

issue

4

eissn

1547-6286

issn

1555-8584

pii

12264

journal_volume

7

pub_type

杂志文章,评审
  • Identification of linc-NeD125, a novel long non coding RNA that hosts miR-125b-1 and negatively controls proliferation of human neuroblastoma cells.

    abstract::The human genome contains some thousands of long non coding RNAs (lncRNAs). Many of these transcripts are presently considered crucial regulators of gene expression and functionally implicated in developmental processes in Eukaryotes. Notably, despite a huge number of lncRNAs are expressed in the Central Nervous Syste...

    journal_title:RNA biology

    pub_type: 杂志文章

    doi:10.1080/15476286.2015.1096488

    authors: Bevilacqua V,Gioia U,Di Carlo V,Tortorelli AF,Colombo T,Bozzoni I,Laneve P,Caffarelli E

    更新日期:2015-01-01 00:00:00

  • Population differences in microRNA expression and biological implications.

    abstract::Population differences observed for complex traits may be attributed to the combined effect of socioeconomic, environmental, genetic and epigenetic factors. To better understand population differences in complex traits, genome-wide genetic and gene expression differences among ethnic populations have been studied. Her...

    journal_title:RNA biology

    pub_type: 杂志文章

    doi:10.4161/rna.8.4.16029

    authors: Huang RS,Gamazon ER,Ziliak D,Wen Y,Im HK,Zhang W,Wing C,Duan S,Bleibel WK,Cox NJ,Dolan ME

    更新日期:2011-07-01 00:00:00

  • FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS).

    abstract::Fragile X-associated tremor/ataxia syndrome (FXTAS) is a recently identified neurodegenerative disorder affecting older adult males with premutation alleles of the fragile X mental retardation 1 (FMR1) gene. The principal clinical features of FXTAS include progressive intention tremor, gait ataxia, parkinsonism, and a...

    journal_title:RNA biology

    pub_type: 杂志文章

    doi:10.4161/rna.1.2.1035

    authors: Tassone F,Iwahashi C,Hagerman PJ

    更新日期:2004-07-01 00:00:00

  • microRNA-21: a key modulator in oncogenic viral infections.

    abstract::Oncogenic viruses are associated with approximately 15% of human cancers. In viral infections, microRNAs play an important role in host-pathogen interactions. miR-21 is a highly conserved non-coding RNA that not only regulates the development of oncogenic viral diseases, but also responds to the regulation of intracel...

    journal_title:RNA biology

    pub_type: 杂志文章

    doi:10.1080/15476286.2021.1880756

    authors: He G,Ding J,Zhang Y,Cai M,Yang J,Cho WC,Zheng Y

    更新日期:2021-01-27 00:00:00

  • Splicing of an intervening sequence by protein-free human snRNAs.

    abstract::Significant structural and mechanistic similarities between the spliceosomal snRNAs and catalytically critical domains of self-splicing group II introns have led to the hypothesis that the spliceosomes and group II introns may be evolutionarily related. We have previously shown that in vitro-transcribed, protein-free ...

    journal_title:RNA biology

    pub_type: 杂志文章

    doi:10.4161/rna.8.3.15386

    authors: Jaladat Y,Zhang B,Mohammadi A,Valadkhan S

    更新日期:2011-05-01 00:00:00

  • Dissecting the secondary structure of the circular RNA of a nuclear viroid in vivo: A "naked" rod-like conformation similar but not identical to that observed in vitro.

    abstract::With a minimal (250-400 nt), non-protein-coding, circular RNA genome, viroids rely on sequence/structural motifs for replication and colonization of their host plants. These motifs are embedded in a compact secondary structure whose elucidation is crucial to understand how they function. Viroid RNA structure has been ...

    journal_title:RNA biology

    pub_type: 杂志文章

    doi:10.1080/15476286.2016.1223005

    authors: López-Carrasco A,Flores R

    更新日期:2017-08-03 00:00:00

  • Characterization of cis-acting elements that control oscillating alternative splicing.

    abstract::Alternative splicing (AS) in response to changing external conditions often requires alterations in the ability of sequence-specific RNA-binding proteins to bind to cis-acting sequences in their target pre-mRNA. While daily oscillations in AS events have been described in several organisms, cis-acting sequences that c...

    journal_title:RNA biology

    pub_type: 杂志文章

    doi:10.1080/15476286.2018.1502587

    authors: Goldammer G,Neumann A,Strauch M,Müller-McNicoll M,Heyd F,Preußner M

    更新日期:2018-01-01 00:00:00

  • Transcriptional regulation of telomeric non-coding RNA: implications on telomere biology, replicative senescence and cancer.

    abstract::Telomeres, protective nucleoprotein structures located at the ends of eukaryotic chromosomes and until recently regarded as transcriptionally silent, are now known to be transcribed into non-coding RNA molecules called TERRA. The function(s) of TERRA in telomere metabolism is now the subject of intense study given the...

    journal_title:RNA biology

    pub_type: 杂志文章,评审

    doi:10.4161/rna.7.1.10257

    authors: Caslini C

    更新日期:2010-01-01 00:00:00

  • The RNase P family.

    abstract::Ribonuclease P (RNase P) is a ribonucleoprotein comprised of a catalytic RNA subunit and one or several protein subunits. RNase P is best known for its role in 5'-processing of tRNA precursors. RNase P enzymes from almost all forms of life, including protein-synthesizing organelles, contain an RNase P with a conserved...

    journal_title:RNA biology

    pub_type: 杂志文章,评审

    doi:10.4161/rna.6.4.9241

    authors: Ellis JC,Brown JW

    更新日期:2009-09-01 00:00:00

  • RNA-mediated chaperone type for de novo protein folding.

    abstract::Traditionally the principles of protein folding in vivo have been obtained largely from molecular chaperone studies. Through extensive studies on molecular chaperones, it becomes clear that most proteins can fold without their assistance in vivo, suggesting the existence of other chaperone types and mechanisms. Since ...

    journal_title:RNA biology

    pub_type: 杂志文章,评审

    doi:10.4161/rna.6.1.7441

    authors: Choi SI,Ryu K,Seong BL

    更新日期:2009-01-01 00:00:00

  • Conserved microRNA miR-8 blocks activation of the Toll pathway by upregulating Serpin 27 transcripts.

    abstract::microRNAs (miRNAs) play significant regulatory roles in gene expression at the post-transcriptional level. This includes modulating processes such as development, immunity, cancer, and host-pathogen interactions. It was recently shown that the phylogenetically deeply conserved miRNA, miR-8, plays a role in maintaining...

    journal_title:RNA biology

    pub_type: 杂志文章

    doi:10.4161/rna.25481

    authors: Etebari K,Asgari S

    更新日期:2013-08-01 00:00:00

  • IF2 and unique features of initiator tRNAfMet help establish the translational reading frame.

    abstract::Translation begins at AUG, GUG, or UUG codons in bacteria. Start codon recognition occurs in the P site, which may help explain this first-position degeneracy. However, the molecular basis of start codon specificity remains unclear. In this study, we measured the codon dependence of 30S•mRNA•tRNAfMet and 30S•mRNA•tRNA...

    journal_title:RNA biology

    pub_type: 杂志文章

    doi:10.1080/15476286.2017.1379636

    authors: Roy B,Liu Q,Shoji S,Fredrick K

    更新日期:2018-01-01 00:00:00

  • Critical roles of RNA-binding proteins in miRNA biogenesis in Arabidopsis.

    abstract::MicroRNAs (miRNAs) are key regulators of gene expression and play critical roles in modulating metabolism, development and physiology in animals and plants. miRNA levels are transcriptionally and post-transcriptionally controlled for their proper function. Recent studies have shown that RNA-binding proteins play impor...

    journal_title:RNA biology

    pub_type: 杂志文章

    doi:10.4161/rna.22740

    authors: Ren G,Yu B

    更新日期:2012-12-01 00:00:00

  • Crosslinking-immunoprecipitation (iCLIP) analysis reveals global regulatory roles of hnRNP L.

    abstract::Heterogeneous nuclear ribonucleoprotein L (hnRNP L) is a multifunctional RNA-binding protein that is involved in many different processes, such as regulation of transcription, translation, and RNA stability. We have previously characterized hnRNP L as a global regulator of alternative splicing, binding to CA-repeat, a...

    journal_title:RNA biology

    pub_type: 杂志文章

    doi:10.4161/rna.27991

    authors: Rossbach O,Hung LH,Khrameeva E,Schreiner S,König J,Curk T,Zupan B,Ule J,Gelfand MS,Bindereif A

    更新日期:2014-01-01 00:00:00

  • The Csr/Rsm system of Yersinia and related pathogens: a post-transcriptional strategy for managing virulence.

    abstract::This review emphasizes the function and regulation of the Csr regulatory system in the human enteropathogen Yersinia pseudotuberculosis and compares its features with the homologous Csr/Rsm systems of related pathogens. The Csr/Rsm systems of eubacteria form a complex regulatory network in which redundant non-translat...

    journal_title:RNA biology

    pub_type: 杂志文章,评审

    doi:10.4161/rna.19333

    authors: Heroven AK,Böhme K,Dersch P

    更新日期:2012-04-01 00:00:00

  • Toward a crystal-clear view of the viral RNA sensing and response by RIG-I-like receptors.

    abstract::The RIG-I-like receptors (RLRs)--RIG-I, MDA5, and LGP2--detect intracellular pathogenic RNA and elicit an antiviral immune response during viral infection. The protein architecture of the RLR family consists of multiple functional domains, including N-terminal Caspase Activation and Recruitment Domains (CARDs) for sig...

    journal_title:RNA biology

    pub_type: 杂志文章,评审

    doi:10.4161/rna.27717

    authors: Luo D

    更新日期:2014-01-01 00:00:00

  • Prediction and diversity of tracrRNAs from type II CRISPR-Cas systems.

    abstract::Type II CRISPR-Cas9 systems require a small RNA called the trans-activating CRISPR RNA (tracrRNA) in order to function. The prediction of these non-coding RNAs in prokaryotic genomes is challenging because they have dissimilar structures, having short stems (3-6 bp) and non-canonical base-pairs e.g. G-A. Much of the t...

    journal_title:RNA biology

    pub_type: 杂志文章

    doi:10.1080/15476286.2018.1498281

    authors: Chyou TY,Brown CM

    更新日期:2019-04-01 00:00:00

  • Full-length sequence assembly reveals circular RNAs with diverse non-GT/AG splicing signals in rice.

    abstract::Circular RNAs (circRNAs) have been identified in diverse eukaryotic species and are characterized by RNA backsplicing events. Current available methods for circRNA identification are able to determine the start and end locations of circRNAs in the genome but not their full-length sequences. In this study, we developed...

    journal_title:RNA biology

    pub_type: 杂志文章

    doi:10.1080/15476286.2016.1245268

    authors: Ye CY,Zhang X,Chu Q,Liu C,Yu Y,Jiang W,Zhu QH,Fan L,Guo L

    更新日期:2017-08-03 00:00:00

  • Wobble uridine modifications-a reason to live, a reason to die?!

    abstract::Wobble uridines (U34) are generally modified in all species. U34 modifications can be essential in metazoans but are not required for viability in fungi. In this review, we provide an overview on the types of modifications and how they affect the physico-chemical properties of wobble uridines. We describe the molecula...

    journal_title:RNA biology

    pub_type: 杂志文章,评审

    doi:10.1080/15476286.2017.1295204

    authors: Schaffrath R,Leidel SA

    更新日期:2017-09-02 00:00:00

  • 4-thiouridine inhibits rRNA synthesis and causes a nucleolar stress response.

    abstract::High concentrations (> 100 µM) of the ribonucleoside analog 4-thiouridine (4sU) is widely used in methods for RNA analysis like photoactivatable-ribonucleoside-enhanced crosslinking and immunoprecipitation (PAR-CLIP) and nascent messenger (m)RNA labeling (4sU-tagging). Here, we show that 4sU-tagging at low concentrati...

    journal_title:RNA biology

    pub_type: 杂志文章

    doi:10.4161/rna.26214

    authors: Burger K,Mühl B,Kellner M,Rohrmoser M,Gruber-Eber A,Windhager L,Friedel CC,Dölken L,Eick D

    更新日期:2013-10-01 00:00:00

  • High-affinity interaction of hnRNP A1 with conserved RNA structural elements is required for translation and replication of enterovirus 71.

    abstract::Human Enterovirus 71 (EV71) is an emerging pathogen of infectious disease and a serious threat to public health. Currently, there are no antivirals or vaccines to slow down or prevent EV71 infections, thus underscoring the urgency to better understand mechanisms of host-enterovirus interactions. EV71 uses a type I int...

    journal_title:RNA biology

    pub_type: 杂志文章

    doi:10.4161/rna.25107

    authors: Levengood JD,Tolbert M,Li ML,Tolbert BS

    更新日期:2013-07-01 00:00:00

  • Comparing two approaches of miR-34a target identification, biotinylated-miRNA pulldown vs miRNA overexpression.

    abstract::microRNAs (miRNAs) are critical regulators of gene expression. For elucidating functional roles of miRNAs, it is critical to identify their direct targets. There are debates about whether pulldown of biotinylated miRNA mimics can be used to identify miRNA targets or not. Here we show that biotin-labelled miR-34a can b...

    journal_title:RNA biology

    pub_type: 杂志文章

    doi:10.1080/15476286.2017.1391441

    authors: Awan HM,Shah A,Rashid F,Wei S,Chen L,Shan G

    更新日期:2018-01-02 00:00:00

  • Casting a long shadow in the classroom: an educator's perspective of the contributions of Carl Woese.

    abstract::"What does one do when the giants pass away?" remarked a very famous microbiologist to me, soon after the death of Carl Woese in late 2012. I teach microbiology and introductory cell and molecular biology at a small undergraduate institution; Woese's example and contributions have long been part of every class I teach...

    journal_title:RNA biology

    pub_type: 杂志文章,评审

    doi:10.4161/rna.28002

    authors: Martin M

    更新日期:2014-01-01 00:00:00

  • Constraint and opportunity in genome innovation.

    abstract::The development of rigorous molecular taxonomy pioneered by Carl Woese has freed evolution science to explore numerous cellular activities that lead to genome change in evolution. These activities include symbiogenesis, inter- and intracellular horizontal DNA transfer, incorporation of DNA from infectious agents, and ...

    journal_title:RNA biology

    pub_type: 杂志文章,评审

    doi:10.4161/rna.27506

    authors: Shapiro JA

    更新日期:2014-01-01 00:00:00

  • Long noncoding RNA in genome regulation: prospects and mechanisms.

    abstract::Long noncoding RNAs (lncRNAs) are pervasively transcribed and critical regulators of the epigenome[1, 2]. These long, polyadenylated RNAs do not code for proteins, but function directly as RNAs, recruiting chromatin modifiers to mediate transcriptional changes in processes ranging from X-inactivation (XIST) to imprint...

    journal_title:RNA biology

    pub_type: 杂志文章

    doi:10.4161/rna.7.5.13216

    authors: Hung T,Chang HY

    更新日期:2010-09-01 00:00:00

  • Altered expressions of the noncoding hsromega gene enhances poly-Q-induced neurotoxicity in Drosophila.

    abstract::In an earlier report two P-transposon insertion alleles of the noncoding hsromega gene, hsromega(05241) and P292 were shown to enhance neurodegeneration caused by expression of ataxin-1 protein with expanded poly-Q in a Drosophila model. In present study, we examined the possible relation between hsromega gene express...

    journal_title:RNA biology

    pub_type: 杂志文章

    doi:10.4161/rna.3.1.2559

    authors: Sengupta S,Lakhotia SC

    更新日期:2006-01-01 00:00:00

  • Viroid-specific small RNA in plant disease.

    abstract::Viroids are the smallest autonomous infectious nucleic acids known today. They are non-coding, unencapsidated, circular RNAs with sizes ranging from 250 to 400 nucleotides and infect certain plants. These RNAs are transcribed by rolling-circle mechanisms in the plant host's nuclei (Pospiviroidae) or chloroplasts (Avsu...

    journal_title:RNA biology

    pub_type: 杂志文章,评审

    doi:10.4161/rna.19810

    authors: Hammann C,Steger G

    更新日期:2012-06-01 00:00:00

  • The mammalian microRNA response to bacterial infections.

    abstract::MicroRNAs are small RNAs that post-transcriptionally regulate eukaryotic gene expression. In addition to their involvement in a wide range of physiological and pathological processes, including viral infections, microRNAs are increasingly implicated in the eukaryotic response to bacterial pathogens. Recent studies hav...

    journal_title:RNA biology

    pub_type: 杂志文章,评审

    doi:10.4161/rna.20018

    authors: Eulalio A,Schulte L,Vogel J

    更新日期:2012-06-01 00:00:00

  • Opposing roles of C/EBPα and eEF1A1 in Sp1-regulated miR-122 transcription.

    abstract::We previously showed that miR-122 was frequently downregulated in hepatocellular carcinoma (HCC) and C/EBPα transactivated miR-122 expression. In this study, we found that Sp1 bound to the miR-122 promoter at two different sites. Interestingly, either inhibition or overexpression of Sp1 could decrease the miR-122 prom...

    journal_title:RNA biology

    pub_type: 杂志文章

    doi:10.1080/15476286.2019.1673656

    authors: Zeng C,Sang Y,Wang FY,Zhuang SM

    更新日期:2020-02-01 00:00:00

  • Long non-coding RNAs and human X-chromosome regulation: a coat for the active X chromosome.

    abstract::In mammals, the genic disequilibrium between males (XY) and females (XX) is resolved through the inactivation of one of the X-chromosomes in females. X-chromosome inactivation (XCI) takes place in all mammalian species, but has mainly been studied in the mouse model where it was shown to be controlled by the interplay...

    journal_title:RNA biology

    pub_type: 杂志文章

    doi:10.4161/rna.25802

    authors: Vallot C,Rougeulle C

    更新日期:2013-08-01 00:00:00