Evidence map›Paper›PMID 36901952›Full record

ArticleInternational journal of molecular sciences2023

Triamterene Functions as an Effective Nonsense Suppression Agent for MPS I-H (Hurler Syndrome).

Amna Siddiqui, Halil Dundar, Jyoti Sharma, Aneta Kaczmarczyk, Josh Echols, Yanying Dai, Chuanxi Richard Sun, Ming Du, Zhong Liu, Rui Zhao and 9 more

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

Article in International journal of molecular sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact, top 97% 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

1 citing paper in PubMed, 0 citations in OpenAlex.

  1. Article
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

19 authors at 4 institutions in 1 country.

Amna SiddiquiDepartment of Biochemistry & Molecular Genetics, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Halil DundarDepartment of Biochemistry & Molecular Genetics, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA.ORCID 0000-0001-9021-0105
Jyoti SharmaCystic Fibrosis Research Center, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Aneta KaczmarczykDepartment of Biochemistry & Molecular Genetics, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Josh EcholsDepartment of Biochemistry & Molecular Genetics, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Yanying DaiDepartment of Biochemistry & Molecular Genetics, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Chuanxi Richard SunDepartment of Biochemistry & Molecular Genetics, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Ming DuDepartment of Biochemistry & Molecular Genetics, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Zhong LiuDepartment of Biochemistry & Molecular Genetics, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Rui ZhaoDepartment of Biochemistry & Molecular Genetics, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Tim WoodGreenwood Genetic Center, Greenwood, SC 29646, USA.
Shalisa SandersSouthern Research, Birmingham, AL 35205, USA.
Lynn RasmussenSouthern Research, Birmingham, AL 35205, USA.
James Robert BostwickSouthern Research, Birmingham, AL 35205, USA.
Corinne Augelli-SzafranSouthern Research, Birmingham, AL 35205, USA.
Mark SutoSouthern Research, Birmingham, AL 35205, USA.
Steven M RoweCystic Fibrosis Research Center, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA.ORCID 0000-0001-9045-0133
David M BedwellDepartment of Biochemistry & Molecular Genetics, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Kim M KeelingDepartment of Biochemistry & Molecular Genetics, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA.ORCID 0000-0003-0471-5858
University of Alabama at Birmingham · USSouthern Research Institute · USGreenwood Genetic Center · USUniversity of Utah · US

Funding

UAB CF Research and Translation Core CenterP30DK072482 · NIDDK · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI Brian R. Davis · 2007 to 2026
$23.0M
Explore the APOE e4-mediated p53 activation in Alzheimer's DiseaseR01OD026594 · OD · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI ZHAO, RUI · 2019 to 2022
$1.7M
Investigating the Effects of Reducing Nonsense-Mediated mRNA Decay EfficiencyR21OD019922 · OD · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI KEELING, KIM MARIE · 2016 to 2017
$395k
NIDDK NIH HHS P30 DK072482NIH HHS P30DK072482, R21OD19922NIH HHS R01 OD026594
6 · The paper itself

Abstract

Mucopolysaccharidosis I-Hurler (MPS I-H) is caused by the loss of α-L-iduronidase, a lysosomal enzyme that degrades glycosaminoglycans. Current therapies cannot treat many MPS I-H manifestations. In this study, triamterene, an FDA-approved, antihypertensive diuretic, was found to suppress translation termination at a nonsense mutation associated with MPS I-H. Triamterene rescued enough α-L-iduronidase function to normalize glycosaminoglycan storage in cell and animal models. This new function of triamterene operates through premature termination codon (PTC) dependent mechanisms that are unaffected by epithelial sodium channel activity, the target of triamterene's diuretic function. Triamterene represents a potential non-invasive treatment for MPS I-H patients carrying a PTC.

Indexed as

Mucopolysaccharidosis IAnimalsCodon, NonsenseDiureticsGlycosaminoglycansIduronidaseTriamtereneCodon, NonsenseDiureticsGlycosaminoglycansIduronidaseTriamtereneIDUA-W402XMPS I-Hnonsense suppressionreadthroughtriamterene

Identifiers

PMID36901952
PMCPMC10003437
OpenAlexW4322501557

What OpenQuestion holds

Textfull text, public
LicenceCC BY
measurements read77
Read underepoch 390

Registered trials

None linked

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.