Evidence map›Paper›PMID 28361972›Full record

ArticleNature communications2017

PABPN1 gene therapy for oculopharyngeal muscular dystrophy.

A Malerba, P Klein, H Bachtarzi, S A Jarmin, G Cordova, A Ferry, V Strings, M Polay Espinoza, K Mamchaoui, S C Blumen and 7 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Nature communications, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.

0numbers the graph read from it
0cells of the map it votes in
43citing papers in PubMed
3.8field-weighted citation impact, top 6% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

43 citing papers in PubMed, 92 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

17 authors at 5 institutions in 3 countries.

A MalerbaSchool of Biological Sciences, Royal Holloway, University of London, Egham Hill, Egham, TW20 0EX Surrey, UK.
P KleinSorbonne Universités, UPMC Univ Paris 06, UM76, INSERM U974, Institut de Myologie, CNRS FRE3617, 47 bd de l'Hôpital, 75013 Paris, France.
H BachtarziSchool of Biological Sciences, Royal Holloway, University of London, Egham Hill, Egham, TW20 0EX Surrey, UK.
S A JarminSchool of Biological Sciences, Royal Holloway, University of London, Egham Hill, Egham, TW20 0EX Surrey, UK.
G CordovaSorbonne Universités, UPMC Univ Paris 06, UM76, INSERM U974, Institut de Myologie, CNRS FRE3617, 47 bd de l'Hôpital, 75013 Paris, France.
A FerrySorbonne Universités, UPMC Univ Paris 06, UM76, INSERM U974, Institut de Myologie, CNRS FRE3617, 47 bd de l'Hôpital, 75013 Paris, France.
V StringsBenitec Biopharma, 3940 Trust Way, Hayward, California 94545, USA.
M Polay EspinozaSorbonne Universités, UPMC Univ Paris 06, UM76, INSERM U974, Institut de Myologie, CNRS FRE3617, 47 bd de l'Hôpital, 75013 Paris, France.
K MamchaouiSorbonne Universités, UPMC Univ Paris 06, UM76, INSERM U974, Institut de Myologie, CNRS FRE3617, 47 bd de l'Hôpital, 75013 Paris, France.
S C BlumenDepartment of Neurology, Hillel Yaffe Medical Center, Hadera and Rappaport Faculty of Medicine, The Technion, 1 Efron Street, Haifa 31096, Israel.
J Lacau St GuilySorbonne Universités, UPMC Univ Paris 06, UM76, INSERM U974, Institut de Myologie, CNRS FRE3617, 47 bd de l'Hôpital, 75013 Paris, France.
V MoulySorbonne Universités, UPMC Univ Paris 06, UM76, INSERM U974, Institut de Myologie, CNRS FRE3617, 47 bd de l'Hôpital, 75013 Paris, France.
M GrahamBenitec Biopharma, 3940 Trust Way, Hayward, California 94545, USA.
G Butler-BrowneSorbonne Universités, UPMC Univ Paris 06, UM76, INSERM U974, Institut de Myologie, CNRS FRE3617, 47 bd de l'Hôpital, 75013 Paris, France.
D A SuhyBenitec Biopharma, 3940 Trust Way, Hayward, California 94545, USA.
C TrolletSorbonne Universités, UPMC Univ Paris 06, UM76, INSERM U974, Institut de Myologie, CNRS FRE3617, 47 bd de l'Hôpital, 75013 Paris, France.
G DicksonSchool of Biological Sciences, Royal Holloway, University of London, Egham Hill, Egham, TW20 0EX Surrey, UK.
Centre de Recherche en MyologieCentre National de la Recherche Scientifique · FRRoyal Holloway University of London · GBHillel Yaffe Medical Center · ILInstitut de Myologie · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant, late-onset muscle disorder characterized by ptosis, swallowing difficulties, proximal limb weakness and nuclear aggregates in skeletal muscles. OPMD is caused by a trinucleotide repeat expansion in the PABPN1 gene that results in an N-terminal expanded polyalanine tract in polyA-binding protein nuclear 1 (PABPN1). Here we show that the treatment of a mouse model of OPMD with an adeno-associated virus-based gene therapy combining complete knockdown of endogenous PABPN1 and its replacement by a wild-type PABPN1 substantially reduces the amount of insoluble aggregates, decreases muscle fibrosis, reverts muscle strength to the level of healthy muscles and normalizes the muscle transcriptome. The efficacy of the combined treatment is further confirmed in cells derived from OPMD patients. These results pave the way towards a gene replacement approach for OPMD treatment.

Indexed as

AnimalsDisease Models, AnimalGene Knockdown TechniquesGenetic TherapyHEK293 CellsHumansIn Vitro TechniquesMiceMice, TransgenicMuscle StrengthMuscular Dystrophy, OculopharyngealMyoblasts, SkeletalPoly(A)-Binding Protein ITranscriptomeTrinucleotide Repeat ExpansionPoly(A)-Binding Protein I

Identifiers

PMID28361972
PMCPMC5380963
OpenAlexW2597856123

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.