Diaphragmatic Mitochondrial Myopathy in a Patient-Derived Mouse Model of Barth Syndrome.

Kristen Tentler, Paige L Snider, Catalina Matias, Jeffrey J Brault, Simon J Conway

Abstract read

In one paragraph

Article in Journal of developmental biology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it

0cells of the map it votes in

0citing papers in PubMed

–field-weighted citation impact

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

5 authors.

Kristen TentlerHerman B. Wells Center for Pediatric Research, Department of Pediatrics, Indiana University School of Medicine, 1044 West Walnut Street, Indianapolis, IN 46202, USA.

Paige L SniderHerman B. Wells Center for Pediatric Research, Department of Pediatrics, Indiana University School of Medicine, 1044 West Walnut Street, Indianapolis, IN 46202, USA.

Catalina MatiasIndiana Center for Musculoskeletal Health, Department of Anatomy, Cell Biology & Physiology, Indiana University School of Medicine, 635 Barnhill Drive, Indianapolis, IN 46202, USA.

Jeffrey J BraultIndiana Center for Musculoskeletal Health, Department of Anatomy, Cell Biology & Physiology, Indiana University School of Medicine, 635 Barnhill Drive, Indianapolis, IN 46202, USA.ORCID 0000-0003-3503-0528

Simon J ConwayHerman B. Wells Center for Pediatric Research, Department of Pediatrics, Indiana University School of Medicine, 1044 West Walnut Street, Indianapolis, IN 46202, USA.ORCID 0000-0001-5593-9259

Funding

Tafazzin and metabolic reprogramming during cardiomyopathyR01HL159436 · NHLBI · INDIANA UNIVERSITY INDIANAPOLIS · PI CONWAY, SIMON JAMES · 2021 to 2024

$2.3M

NHLBI NIH HHS R01 HL159436NIH HHS 1R01HL159436-05

6 · The paper itself

Abstract

Barth syndrome (BTHS) is a rare, X-linked genetic disorder caused by mutations in the enzyme TAFAZZIN (TAZ), resulting in insufficient cardiolipin (CL) remodeling and mitochondrial dysfunction. While BTHS respiratory distress and breathing difficulties are commonly reported, the precise role of intrinsic respiratory tissue vulnerabilities has only recently begun to be appreciated. Historically, BTHS respiratory distress is frequently attributed to secondary consequences like cardiomyopathy or generalized skeletal myopathy, leaving the intrinsic vulnerability of vital respiratory muscles poorly understood. Using a patient-tailored point mutant knock-in mouse model (

Indexed as

Barth syndromebioenergeticsCRISPR/Cas mouse modeldiaphragmatic mitochondrial myopathytafazzin

Identifiers

PMID42783548

DOI10.3390/jdb14030040

PMCPMC13608765

What OpenQuestion holds

Textmetadata

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.