Current Progress in Therapeutic Gene Editing for Monogenic Diseases

Versha Prakash; Marc Moore; Rafael J Yáñez-Muñoz

doi:10.1038/mt.2016.5

journal article Open Access Mar 01, 2016

Current Progress in Therapeutic Gene Editing for Monogenic Diseases

Versha Prakash Marc Moore Rafael J Yáñez-Muñoz

Molecular Therapy Vol. 24 No. 3 pp. 465-474 · Elsevier BV

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References

117

[1]

Rodwell 2014 Report on the State of the Art of Rare Disease Activities in Europe Part Ii: Key Developments in the Field of Rare Diseases in Europe in 2013 (2014)

[2]

Hacein-Bey-Abina "Efficacy of gene therapy for X-linked severe combined immunodeficiency" N Engl J Med (2010) 10.1056/nejmoa1000164

[3]

Ylä-Herttuala "Endgame: glybera finally recommended for approval as the first gene therapy drug in the European union" Mol Ther (2012) 10.1038/mt.2012.194

[4]

Alton "Repeated nebulisation of non-viral CFTR gene therapy in patients with cystic fibrosis: a randomised, double-blind, placebo-controlled, phase 2b trial" Lancet Respir Med (2015) 10.1016/s2213-2600(15)00245-3

[5]

ZFN, TALEN, and CRISPR/Cas-based methods for genome engineering

Thomas Gaj, Charles A. Gersbach, Carlos F. Barbas

Trends in Biotechnology 2013 10.1016/j.tibtech.2013.04.004

[6]

Sadelain "Safe harbours for the integration of new DNA in the human genome" Nat Rev Cancer (2012) 10.1038/nrc3179

[7]

O'Sullivan "Cystic fibrosis" Lancet (2009) 10.1016/s0140-6736(09)60327-5

[8]

Genetics of cystic fibrosis: CFTR mutation classifications toward genotype-based CF therapies

Pascale Fanen, Adeline Wohlhuter-Haddad, Alexandre Hinzpeter

The International Journal of Biochemistry & Ce... 2014 10.1016/j.biocel.2014.02.023

[9]

Griesenbach "Cystic fibrosis gene therapy in the UK and elsewhere" Hum Gene Ther (2015) 10.1089/hum.2015.027

[10]

Welch "PTC124 targets genetic disorders caused by nonsense mutations" Nature (2007) 10.1038/nature05756

[11]

Ren "VX-809 corrects folding defects in cystic fibrosis transmembrane conductance regulator protein through action on membrane-spanning domain 1" Mol Biol Cell (2013) 10.1091/mbc.e13-05-0240

[12]

Eckford "Cystic fibrosis transmembrane conductance regulator (CFTR) potentiator VX-770 (ivacaftor) opens the defective channel gate of mutant CFTR in a phosphorylation-dependent but ATP-independent manner" J Biol Chem (2012) 10.1074/jbc.m112.393637

[13]

Davies "Efficacy and safety of ivacaftor in patients aged 6 to 11 years with cystic fibrosis with a G551D mutation" Am J Respir Crit Care Med (2013) 10.1164/rccm.201301-0153oc

[14]

Davies "Assessment of clinical response to ivacaftor with lung clearance index in cystic fibrosis patients with a G551D-CFTR mutation and preserved spirometry: a randomised controlled trial" Lancet Respir Med (2013) 10.1016/s2213-2600(13)70182-6

[15]

A CFTR Potentiator in Patients with Cystic Fibrosis and the G551D Mutation

Bonnie W. Ramsey, Jane Davies, N. Gerard McElvaney et al.

New England Journal of Medicine 2011 10.1056/nejmoa1105185

[16]

Barry "Effects of ivacaftor in patients with cystic fibrosis who carry the G551D mutation and have severe lung disease" Chest (2014) 10.1378/chest.13-2397

[17]

Yu "Ivacaftor potentiation of multiple CFTR channels with gating mutations" J Cyst Fibros (2012) 10.1016/j.jcf.2011.12.005

[18]

Wainwright "Lumacaftor-ivacaftor in patients with cystic fibrosis homozygous for Phe508del CFTR" N Engl J Med (2015) 10.1056/nejmoa1409547

[19]

Beumer "WS01.2 QR-010, an RNA therapy, restores CFTR function using in vitro and in vivo models of ΔF508 CFTR" J Cyst Fibros (2015) 10.1016/s1569-1993(15)30002-3

[20]

Henig QR-010, an RNA therapy, restores CFTR function in the saliva secretion assay. American Thoracic Society International Conference Meetings Abstracts (2015)

[21]

Griesenbach "Moving forward: cystic fibrosis gene therapy" Hum Mol Genet (2013) 10.1093/hmg/ddt372

[22]

Lee "Correction of the ΔF508 mutation in the cystic fibrosis transmembrane conductance regulator gene by zinc-finger nuclease homology-directed repair" Biores Open Access (2012) 10.1089/biores.2012.0218

[23]

Schwank "Functional repair of CFTR by CRISPR/Cas9 in intestinal stem cell organoids of cystic fibrosis patients" Cell Stem Cell (2013) 10.1016/j.stem.2013.11.002

[24]

Dekkers "A functional CFTR assay using primary cystic fibrosis intestinal organoids" Nat Med (2013) 10.1038/nm.3201

[25]

Functional engraftment of colon epithelium expanded in vitro from a single adult Lgr5+ stem cell

Shiro Yui, Tetsuya Nakamura, Toshiro Sato et al.

Nature Medicine 2012 10.1038/nm.2695

[26]

Crane "Targeted correction and restored function of the CFTR gene in cystic fibrosis induced pluripotent stem cells" Stem Cell Reports (2015) 10.1016/j.stemcr.2015.02.005

[27]

Sargent "Nuclease-mediated double-strand break (DSB) enhancement of small fragment homologous recombination (SFHR) gene modification in human-induced pluripotent stem cells (hiPSCs)" Methods Mol Biol (2014) 10.1007/978-1-62703-761-7_18

[28]

Firth "Functional gene correction for cystic fibrosis in lung epithelial cells generated from patient iPSCs" Cell Rep (2015) 10.1016/j.celrep.2015.07.062

[29]

Cheng "Multiplexed activation of endogenous genes by CRISPR-on, an RNA-guided transcriptional activator system" Cell Res (2013) 10.1038/cr.2013.122

[30]

RNA-guided gene activation by CRISPR-Cas9–based transcription factors

Pablo Perez-Pinera, D Dewran Kocak, Christopher M Vockley et al.

Nature Methods 2013 10.1038/nmeth.2600

[31]

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management

Katharine Bushby, Richard Finkel, David J Birnkrant et al.

The Lancet Neurology 2010 10.1016/s1474-4422(09)70271-6

[32]

Bushby "Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care" Lancet Neurol (2010) 10.1016/s1474-4422(09)70272-8

[33]

Ricotti "Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy" J Neurol Neurosurg Psychiatry (2013) 10.1136/jnnp-2012-303902

[34]

Aartsma-Rus "Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations" Hum Mutat (2009) 10.1002/humu.20918

[35]

Jarmin "New developments in the use of gene therapy to treat Duchenne muscular dystrophy" Expert Opin Biol Ther (2014) 10.1517/14712598.2014.866087

[36]

England "Very mild muscular dystrophy associated with the deletion of 46% of dystrophin" Nature (1990) 10.1038/343180a0

[37]

Multiplex CRISPR/Cas9-based genome editing for correction of dystrophin mutations that cause Duchenne muscular dystrophy

David G. Ousterout, Ami M. Kabadi, Pratiksha I. Thakore et al.

Nature Communications 2015 10.1038/ncomms7244

[38]

Popplewell "Gene correction of a Duchenne muscular dystrophy mutation by meganuclease-enhanced exon knock-in" Hum Gene Ther (2013) 10.1089/hum.2013.081

[39]

Li "Precise correction of the dystrophin gene in duchenne muscular dystrophy patient induced pluripotent stem cells by TALEN and CRISPR-Cas9" Stem Cell Reports (2015) 10.1016/j.stemcr.2014.10.013

[40]

Ousterout "Correction of dystrophin expression in cells from Duchenne muscular dystrophy patients through genomic excision of exon 51 by zinc finger nucleases" Mol Ther (2015) 10.1038/mt.2014.234

[41]

Briggs "Recent progress in satellite cell/myoblast engraftment – relevance for therapy" FEBS J (2013) 10.1111/febs.12273

[42]

Long "Prevention of muscular dystrophy in mice by CRISPR/Cas9-mediated editing of germline DNA" Science (2014)

[43]

Nakamura "Generation of muscular dystrophy model rats with a CRISPR/Cas system" Sci Rep (2014) 10.1038/srep05635

[44]

Larcher "Characterization of dystrophin deficient rats: a new model for Duchenne muscular dystrophy" PLoS One (2014) 10.1371/journal.pone.0110371

[45]

Chen "Functional disruption of the dystrophin gene in rhesus monkey using CRISPR/Cas9" Hum Mol Genet (2015) 10.1093/hmg/ddv120

[46]

Klymiuk "Dystrophin-deficient pigs provide new insights into the hierarchy of physiological derangements of dystrophic muscle" Hum Mol Genet (2013) 10.1093/hmg/ddt287

[47]

Hollinger "Dystrophin insufficiency causes selective muscle histopathology and loss of dystrophin-glycoprotein complex assembly in pig skeletal muscle" FASEB J (2014) 10.1096/fj.13-241141

[48]

Whitmore "What do mouse models of muscular dystrophy tell us about the DAPC and its components?" Int J Exp Pathol (2014) 10.1111/iep.12095

[49]

McGreevy "Animal models of Duchenne muscular dystrophy: from basic mechanisms to gene therapy" Dis Model Mech (2015) 10.1242/dmm.018424

[50]

Cavazzana-Calvo "Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease" Science (2000) 10.1126/science.288.5466.669

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Published: Mar 01, 2016
Vol/Issue: 24(3)
Pages: 465-474
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Cite This Article

Versha Prakash, Marc Moore, Rafael J Yáñez-Muñoz (2016). Current Progress in Therapeutic Gene Editing for Monogenic Diseases. Molecular Therapy, 24(3), 465-474. https://doi.org/10.1038/mt.2016.5

Current Progress in Therapeutic Gene Editing for Monogenic Diseases

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