Genetic therapies for RNA mis-splicing diseases (Q28235690)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21497936 AND SRC:MED&resulttype=core&format=json

28 January 2020

review article

1 reference

title

Genetic therapies for RNA mis-splicing diseases (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21497936 AND SRC:MED&resulttype=core&format=json

28 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:21497936

30 November 2024

1

Suzan M Hammond

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21497936 AND SRC:MED&resulttype=core&format=json

28 January 2020

2

Matthew J A Wood

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21497936 AND SRC:MED&resulttype=core&format=json

28 January 2020

language of work or name

English

0 references

publication date

15 April 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21497936 AND SRC:MED&resulttype=core&format=json

full work available at URL

28 January 2020

https://api.elsevier.com/content/article/PII:S0168952511000308?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

https://api.elsevier.com/content/article/PII:S0168952511000308?httpAccept=text/plain

30 November 2024

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

30 November 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21497936 AND SRC:MED&resulttype=core&format=json

28 January 2020

volume

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21497936 AND SRC:MED&resulttype=core&format=json

28 January 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21497936 AND SRC:MED&resulttype=core&format=json

28 January 2020

page(s)

196-205

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21497936 AND SRC:MED&resulttype=core&format=json

28 January 2020

1

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Spliceosome structure: piece by piece

30 November 2024

2

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Intrinsic differences between authentic and cryptic 5' splice sites

30 November 2024

3

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

30 November 2024

4

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C disease

30 November 2024

5

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Alternative splicing in disease and therapy

30 November 2024

6

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Lipoproteins containing apolipoprotein B isolated from patients with abetalipoproteinemia and homozygous hypobetalipoproteinemia: identification and characterization

30 November 2024

7

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Restoration of correct splicing in thalassemic pre-mRNA by antisense oligonucleotides

30 November 2024

9

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations

30 November 2024

10

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model

30 November 2024

11

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

RNA repair restores hemoglobin expression in IVS2-654 thalassemic mice

30 November 2024

12

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Antisense oligonucleotide-induced alternative splicing of the APOB mRNA generates a novel isoform of APOB.

30 November 2024

13

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Effects of base modifications on antisense properties of 2'-O-methoxyethyl and PNA oligonucleotides

30 November 2024

14

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

2'-carbohydrate modifications in antisense oligonucleotide therapy: importance of conformation, configuration and conjugation

30 November 2024

15

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Morpholino antisense oligomers: the case for an RNase H-independent structural type

30 November 2024

16

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Antisense properties of peptide nucleic acid

30 November 2024

17

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Molecular mechanisms of muscular dystrophies: old and new players

30 November 2024

18

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Development of antisense-mediated exon skipping as a treatment for duchenne muscular dystrophy

30 November 2024

19

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Therapeutic exon skipping for dysferlinopathies?

30 November 2024

20

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy

30 November 2024

21

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Efficacy of systemic morpholino exon-skipping in Duchenne dystrophy dogs

30 November 2024

22

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Identification and characterization of a spinal muscular atrophy-determining gene

30 November 2024

23

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy

30 November 2024

24

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.

30 November 2024

25

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2.

30 November 2024

26

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

In vivo selection reveals combinatorial controls that define a critical exon in the spinal muscular atrophy genes

30 November 2024

27

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences

30 November 2024

28

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Correction of prototypic ATM splicing mutations and aberrant ATM function with antisense morpholino oligonucleotides

30 November 2024

29

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

RNA structure is a key regulatory element in pathological ATM and CFTR pseudoexon inclusion events

30 November 2024

30

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Alternative splicing: role of pseudoexons in human disease and potential therapeutic strategies.

30 November 2024

31

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Pseudoexon exclusion by antisense therapy in methylmalonic aciduria (MMAuria).

30 November 2024

32

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA

30 November 2024

33

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Therapeutic potential of antisense oligonucleotides as modulators of alternative splicing

30 November 2024

34

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Correction of alternative splicing of tau in frontotemporal dementia and parkinsonism linked to chromosome 17.

30 November 2024

35

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Apolipoprotein B levels, APOB alleles, and risk of ischemic cardiovascular disease in the general population, a review

30 November 2024

36

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

An apolipoprotein B antisense oligonucleotide lowers LDL cholesterol in hyperlipidemic mice without causing hepatic steatosis

30 November 2024

37

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Restoration of correct splicing of thalassemic beta-globin pre-mRNA by modified U1 snRNAs

30 November 2024

38

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Stable alteration of pre-mRNA splicing patterns by modified U7 small nuclear RNAs

30 November 2024

39

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

A compensatory base change in U1 snRNA suppresses a 5' splice site mutation

30 November 2024

40

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Assembly, nuclear import and function of U7 snRNPs studied by microinjection of synthetic U7 RNA into Xenopus oocytes

30 November 2024

41

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Body-wide gene therapy of Duchenne muscular dystrophy in the mdx mouse model.

30 November 2024

42

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Exon skipping and duchenne muscular dystrophy therapy: selection of the most active U1 snRNA antisense able to induce dystrophin exon 51 skipping

30 November 2024

43

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Restoration of full-length SMN promoted by adenoviral vectors expressing RNA antisense oligonucleotides embedded in U7 snRNAs

30 November 2024

44

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts

30 November 2024

45

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Delivery of bifunctional RNAs that target an intronic repressor and increase SMN levels in an animal model of spinal muscular atrophy

30 November 2024

46

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Spinal muscular atrophy: SMN2 pre-mRNA splicing corrected by a U7 snRNA derivative carrying a splicing enhancer sequence

30 November 2024

47

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation

30 November 2024

48

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Ultrastructural changes in diaphragm neuromuscular junctions in a severe mouse model for Spinal Muscular Atrophy and their prevention by bifunctional U7 snRNA correcting SMN2 splicing

30 November 2024

49

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Spliceosome-mediated RNA trans-splicing as a tool for gene therapy

30 November 2024

50

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Evidence for trans splicing in trypanosomes

30 November 2024

51

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

A trans-spliced leader sequence on actin mRNA in C. elegans

30 November 2024

52

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Identification of a novel Y branch structure as an intermediate in trypanosome mRNA processing: evidence for trans splicing

30 November 2024

53

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Development of a single vector system that enhances trans-splicing of SMN2 transcripts

30 November 2024

54

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Trans-splicing-mediated improvement in a severe mouse model of spinal muscular atrophy

30 November 2024

55

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Combination of SMN trans-splicing and a neurotrophic factor increases the life span and body mass in a severe model of spinal muscular atrophy

30 November 2024

56

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Very mild muscular dystrophy associated with the deletion of 46% of dystrophin

30 November 2024

57

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus

30 November 2024

58

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Becker muscular dystrophy patients with deletions around exon 51; a promising outlook for exon skipping therapy in Duchenne patients

30 November 2024

59

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Local dystrophin restoration with antisense oligonucleotide PRO051

30 November 2024

60

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study

30 November 2024

61

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Restoration of hemoglobin A synthesis in erythroid cells from peripheral blood of thalassemic patients

30 November 2024

62

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia.

30 November 2024

63

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Enhanced exon-skipping induced by U7 snRNA carrying a splicing silencer sequence: Promising tool for DMD therapy

30 November 2024

64

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping

30 November 2024

65

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Targeted skipping of a single exon harboring a premature termination codon mutation: implications and potential for gene correction therapy for selective dystrophic epidermolysis bullosa patients

30 November 2024

66

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Correction of tau mis-splicing caused by FTDP-17 MAPT mutations by spliceosome-mediated RNA trans-splicing

30 November 2024

67

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Reversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford progeria syndrome

30 November 2024

68

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations

30 November 2024

69

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides.

30 November 2024

70

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice

30 November 2024

71

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Ovalbumin gene: evidence for a leader sequence in mRNA and DNA sequences at the exon-intron boundaries

30 November 2024

72

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Human branch point consensus sequence is yUnAy

30 November 2024

73

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

A comparison of yeast ribosomal protein gene DNA sequences

30 November 2024

74

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

The structure and function of proteins involved in mammalian pre-mRNA splicing

30 November 2024

75

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

The splicing factor BBP interacts specifically with the pre-mRNA branchpoint sequence UACUAAC.

30 November 2024

76

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Diffusion mechanisms in metallic supercooled liquids and glasses

30 November 2024

77

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Cloning and domain structure of the mammalian splicing factor U2AF

30 November 2024

78

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

A potential role for U2AF-SAP 155 interactions in recruiting U2 snRNP to the branch site

30 November 2024

79

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Lariat structures are in vivo intermediates in yeast pre-mRNA splicing

30 November 2024

80

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Excision of an intact intron as a novel lariat structure during pre-mRNA splicing in vitro

30 November 2024

81

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron

30 November 2024

82

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects

30 November 2024

83

1 reference

https://api.crossref.org/works/10.1016/J.TIG.2011.02.004

30 November 2024

Identifiers

2 references

Consolidated OpenCitations Corpus – April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21497936 AND SRC:MED&resulttype=core&format=json

28 January 2020

1 reference

Consolidated OpenCitations Corpus – April 2017

2 references

Consolidated OpenCitations Corpus – April 2017