Evidence map›Paper›PMID 36881526›Full record

ArticleeLife2023

Recessive pathogenic variants in

Bryn D Webb, Sara M Nowinski, Ashley Solmonson, Jaya Ganesh, Richard J Rodenburg, Joao Leandro, Anthony Evans, Hieu S Vu, Thomas P Naidich, Bruce D Gelb and 3 more

Open access · goldAbstract read
In one paragraph

Article in eLife, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.4field-weighted citation impact, top 19% 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

5 citing papers in PubMed, 9 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Review
  5. RecessiveJournal of medical genetics · 2023
    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

13 authors at 7 institutions in 2 countries.

Bryn D Webb *Department of Pediatrics and Center for Human Genomics and Precision Medicine, University of Wisconsin School of Medicine and Public Health, Madison, WI, United States.ORCID 0000-0001-6174-4677
Sara M Nowinski *Department of Metabolism and Nutritional Programming, Van Andel Institute, Grand Rapids, MI, United States.
Ashley SolmonsonChildren's Medical Center Research Institute, University of Texas Southwestern Medical Center, Dallas, TX, United States.ORCID 0000-0001-8863-4558
Jaya GaneshDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, United States.
Richard J RodenburgDepartment of Pediatrics, Nijmegen Center for Mitochondrial Disorders, Radboud University Medical Center, Nijmegen, Netherlands.
Joao LeandroDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, United States.
Anthony EvansDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, United States.
Hieu S VuChildren's Medical Center Research Institute, University of Texas Southwestern Medical Center, Dallas, TX, United States.
Thomas P NaidichDepartment of Radiology, Icahn School of Medicine at Mount Sinai, New York, NY, United States.
Bruce D GelbDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, United States.
Ralph J DeBerardinisChildren's Medical Center Research Institute, University of Texas Southwestern Medical Center, Dallas, TX, United States.
Jared RutterHoward Hughes Medical Institute, Chevy Chase, MD, United States.ORCID 0000-0002-2710-9765
Sander M HoutenDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, United States.
Icahn School of Medicine at Mount Sinai · USChildren's Medical Center · USChild Health and Development Institute · USHoward Hughes Medical Institute · USRadboud University Nijmegen · NLUniversity of Wisconsin–Madison · USVan Andel Institute · US

Funding

TRAINING IN CARDIOVASCULAR RESEARCHT32HL007576 · NHLBI · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI Stavros George Drakos, Robin M Shaw · 1985 to 2026
$10.6M
UT Southwestern NORCP30DK127984 · NIDDK · UT SOUTHWESTERN MEDICAL CENTER · PI JAY D. HORTON · 2022 to 2026
$7.4M
Mitochondrial Biochemistry: From Mechanisms to DiseaseR35GM131854 · NIGMS · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI Jared P Rutter · 2019 to 2026
$3.3M
Succinate Dehydrogenase: Biogenesis and Role in DiseaseR01GM110755 · NIGMS · UNIVERSITY OF UTAH · PI WINGE, DENNIS R. · 2014 to 2021
$2.3M
Novel pathophysiological insights into mitochondrial fatty acid oxidation disordersR01DK113172 · NIDDK · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI HOUTEN, SANDER MICHEL · 2017 to 2020
$2.1M
An Interdisciplinary Approach to Stress-Induced Mitochondrial Quality ControlR01GM115129 · NIGMS · UNIVERSITY OF UTAH · PI HILL, CHRISTOPHER P., RUTTER, JARED P · 2015 to 2018
$1.5M
Msp1/ATAD1: mitochondrial and peroxisomal protein sortingR01GM115174 · NIGMS · UNIVERSITY OF UTAH · PI RUTTER, JARED P · 2015 to 2018
$1.0M
Integrative Approach To Study Mitochondrial Aminoacyl-tRNA Synthetase DisordersK08HD086827 · NICHD · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI WEBB, BRYN D · 2016 to 2020
$791k
The consequences of human inborn errors in mitochondrial lipoic acid metabolismF32HD096786 · NICHD · UT SOUTHWESTERN MEDICAL CENTER · PI SOLMONSON, ASHLEY D · 2018 to 2020
$197k
Howard Hughes Medical InstituteNHLBI NIH HHS T32 HL007576NICHD NIH HHS F32 HD096786NICHD NIH HHS K08 HD086827NIDDK NIH HHS P30 DK127984NIDDK NIH HHS R01 DK113172NIGMS NIH HHS R01 GM110755NIGMS NIH HHS R01 GM115129NIGMS NIH HHS R01 GM115174NIGMS NIH HHS R35 GM131854
6 · The paper itself

Abstract

Malonyl-CoA-acyl carrier protein transacylase (MCAT) is an enzyme involved in mitochondrial fatty acid synthesis (mtFAS) and catalyzes the transfer of the malonyl moiety of malonyl-CoA to the mitochondrial acyl carrier protein (ACP). Previously, we showed that loss-of-function of mtFAS genes, including

Indexed as

Acyl-Carrier Protein S-MalonyltransferaseMitochondrial DiseasesAdipogenesisAnimalsBrainMiceMitochondriaAcyl-Carrier Protein S-MalonyltransferasegeneticsgenomicshumanMCATmitochondriamitochondrial disease

Identifiers

PMID36881526
PMCPMC9991045
OpenAlexW4323042675

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.