Antisense-mediated therapeutic pseudoexon skipping in TMEM165-CDG. (Q50474177)

14 March 2018

title

Antisense-mediated therapeutic pseudoexon skipping in TMEM165-CDG. (English)

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14 March 2018

author

Celia Medrano

2

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author name string

P Yuste-Checa

1

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A Gámez

3

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L R Desviat

4

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G Matthijs

5

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M Ugarte

6

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C Pérez-Cerdá

7

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B Pérez

8

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publication date

22 May 2014

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14 March 2018

published in

Clinical Genetics

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volume

87

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page(s)

42-48

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issue

1

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Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder

cites work

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Golgi function and dysfunction in the first COG4-deficient CDG type II patient

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Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

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CDG nomenclature: time for a change!

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Glycosylation diseases: quo vadis?

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Congenital disorders of glycosylation

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Defective splicing, disease and therapy: searching for master checkpoints in exon definition.

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Genomic variants in exons and introns: identifying the splicing spoilers

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Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

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Present and future of antisense therapy for splicing modulation in inherited metabolic disease

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TMEM165 deficiency causes a congenital disorder of glycosylation

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Newly characterized Golgi-localized family of proteins is involved in calcium and pH homeostasis in yeast and human cells

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Impact of disease-causing mutations on TMEM165 subcellular localization, a recently identified protein involved in CDG-II

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Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165.

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Use of minigene systems to dissect alternative splicing elements

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Minigenes to confirm exon skipping mutations

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

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A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment.

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Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO).

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Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)

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Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation

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

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Targeting RNA splicing for disease therapy

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Cell penetrating peptide delivery of splice directing oligonucleotides as a treatment for Duchenne muscular dystrophy

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Mipomersen, an apolipoprotein B synthesis inhibitor, for lowering of LDL cholesterol concentrations in patients with homozygous familial hypercholesterolaemia: a randomised, double-blind, placebo-controlled trial

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Mipomersen, an apolipoprotein B synthesis inhibitor, lowers low-density lipoprotein cholesterol in high-risk statin-intolerant patients: a randomized, double-blind, placebo-controlled trial.

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Splicing-Directed Therapy in a New Mouse Model of Human Accelerated Aging

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Identifiers

DOI

10.1111/CGE.12402

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14 March 2018

PubMed ID

24720419

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14 March 2018