Exon-Skipping Antisense Oligonucleotides to Correct Missplicing in Neurogenetic Diseases

被引：61

作者：

Siva, Kavitha ^{[1
]}

Covello, Giuseppina ^{[1
]}

Denti, Michela A. ^{[1
,2
]}

机构：

[1] Univ Trento, Ctr Integrat Biol CIBIO, I-38123 Trento, Italy

[2] CNR, Inst Neurosci, Padua, Italy

来源：

NUCLEIC ACID THERAPEUTICS | 2014年 / 24卷 / 01期

关键词：

RESTORES DYSTROPHIN EXPRESSION; AMYLOID PRECURSOR PROTEIN; SPINAL MUSCULAR-ATROPHY; PEPTIDE NUCLEIC-ACID; PELIZAEUS-MERZBACHER-DISEASE; RECEPTOR-ALPHA CHAIN; BLOOD-BRAIN-BARRIER; BETA-TRACE PROTEIN; LONG-TERM RESCUE; MDX MICE;

D O I：

10.1089/nat.2013.0461

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Alternative splicing is an important regulator of the transcriptome. However, mutations may cause alteration of splicing patterns, which in turn leads to disease. During the past 10 years, exon skipping has been looked upon as a powerful tool for correction of missplicing in disease and progress has been made towards clinical trials. In this review, we discuss the use of antisense oligonucleotides to correct splicing defects through exon skipping, with a special focus on diseases affecting the nervous system, and the latest stage achieved in its progress.

引用

页码：69 / 86

页数：18

共 133 条

[21] Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study [J].

Cirak, Sebahattin ;

Arechavala-Gomeza, Virginia ;

Guglieri, Michela ;

Feng, Lucy ;

Torelli, Silvia ;

Anthony, Karen ;

Abbs, Stephen ;

Garralda, Maria Elena ;

Bourke, John ;

Wells, Dominic J. ;

Dickson, George ;

Wood, Matthew J. A. ;

Wilton, Steve D. ;

Straub, Volker ;

Kole, Ryszard ;

Shrewsbury, Stephen B. ;

Sewry, Caroline ;

Morgan, Jennifer E. ;

Bushby, Kate ;

Muntoni, Francesco .

LANCET, 2011, 378 (9791) :595-605

[22] The tau N279K Exon 10 splicing mutation recapitulates frontotemporal dementia and parkinsonism linked to chromosome 17 tauopathy in a mouse model [J].

Dawson, Hana N. ;

Cantillana, Viviana ;

Chen, Liling ;

Vitek, Michael P. .

JOURNAL OF NEUROSCIENCE, 2007, 27 (34) :9155-9168

[23]

De Clercq E, 1969, Antimicrob Agents Chemother (Bethesda), V9, P187

[24] Alternative splicing: role of pseudoexons in human disease and potential therapeutic strategies [J].

Dhir, Ashish ;

Buratti, Emanuele .

FEBS JOURNAL, 2010, 277 (04) :841-855

[25] Intranasal Delivery to the Central Nervous System: Mechanisms and Experimental Considerations [J].

Dhuria, Shyeilla V. ;

Hanson, Leah R. ;

Frey, William H., II .

JOURNAL OF PHARMACEUTICAL SCIENCES, 2010, 99 (04) :1654-1673

[26]

Disterer P, 2012, METHODS MOL BIOL, V867, P289, DOI 10.1007/978-1-61779-767-5_19

[27] Stabilization of the tau exon 10 stem loop alters pre-mRNA splicing [J].

Donahue, Christine P. ;

Muratore, Christina ;

Wu, Jane Y. ;

Kosik, Kenneth S. ;

Wolfe, Michael S. .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2006, 281 (33) :23302-23306

[28] Splicing therapy for neuromuscular disease [J].

Douglas, Andrew G. L. ;

Wood, Matthew J. A. .

MOLECULAR AND CELLULAR NEUROSCIENCE, 2013, 56 :169-185

[29] Correction of prototypic ATM splicing mutations and aberrant ATM function with antisense morpholino oligonucleotides [J].

Du, Liutao ;

Pollard, Julianne M. ;

Gatti, Richard A. .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2007, 104 (14) :6007-6012

[30] Arginine-rich cell-penetrating peptide dramatically enhances AMO-mediated ATM aberrant splicing correction and enables delivery to brain and cerebellum [J].

Du, Liutao ;

Kayali, Refik ;

Bertoni, Carmen ;

Fike, Francesca ;

Hu, Hailiang ;

Iversen, Patrick L. ;

Gatti, Richard A. .

HUMAN MOLECULAR GENETICS, 2011, 20 (16) :3151-3160

← 1 2 3 4 5 6 7 8 9 10 →