Evidence map›Paper›PMID 31042466›Full record

ArticleCell reports2019

Functional Assessment of Lipoyltransferase-1 Deficiency in Cells, Mice, and Humans.

Min Ni, Ashley Solmonson, Chunxiao Pan, Chendong Yang, Dan Li, Ashley Notzon, Ling Cai, Gerardo Guevara, Lauren G Zacharias, Brandon Faubert and 13 more

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

Article in Cell reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
67citing papers in PubMed, 1 pooled it
7.8field-weighted citation impact, top 2% 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

67 citing papers in PubMed, 1 synthesis or guideline pooled it, 120 citations in OpenAlex.

  1. Pooled it
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  16. NEDD4L induces mitochondrial dysfunction and neurodegeneration by promoting LIPT2 degradation in Huntington's disease.Proceedings of the National Academy of Sciences of the United States of America · 2025
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7 more citing papers are in PubMed but not listed here.

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

23 authors at 4 institutions in 1 country.

Min NiChildren's Medical Center Research Institute, The University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Department of Pediatrics, The University of Texas Southwestern Medical Center, Dallas, TX 75390, USA. Electronic address: min.ni@utsouthwestern.edu.
Ashley SolmonsonChildren's Medical Center Research Institute, The University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
Chunxiao PanChildren's Medical Center Research Institute, The University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
Chendong YangChildren's Medical Center Research Institute, The University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
Dan LiChildren's Medical Center Research Institute, The University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
Ashley NotzonChildren's Medical Center Research Institute, The University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
Ling CaiChildren's Medical Center Research Institute, The University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Quantitative Biomedical Research Center, The University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
Gerardo GuevaraChildren's Medical Center Research Institute, The University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
Lauren G ZachariasChildren's Medical Center Research Institute, The University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
Brandon FaubertChildren's Medical Center Research Institute, The University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
Hieu S VuChildren's Medical Center Research Institute, The University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
Lei JiangDepartment of Molecular and Cellular Endocrinology, City of Hope, Duarte, CA 91010, USA.
Bookyung KoChildren's Medical Center Research Institute, The University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
Noriko Merida MoralesChildren's Medical Center Research Institute, The University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
Jimin PeiHoward Hughes Medical Institute, The University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
Gonçalo ValeDepartment of Molecular Genetics, The University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
Dinesh RakhejaDepartment of Pathology, The University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
Nick V GrishinDepartment of Biophysics, The University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Department of Biochemistry, The University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Howard Hughes Medical Institute, The University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
Jeffrey G McDonaldDepartment of Molecular Genetics, The University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
Garrett K GotwayDepartment of Pediatrics, The University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Department of Internal Medicine, The University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Eugene McDermott Center for Human Growth and Development, The University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
Markey C McNuttDepartment of Pediatrics, The University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Department of Internal Medicine, The University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Eugene McDermott Center for Human Growth and Development, The University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
Juan M PascualDepartment of Pediatrics, The University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Eugene McDermott Center for Human Growth and Development, The University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Department of Neurology and Neurotherapeutics, The University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Department of Physiology, The University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
Ralph J DeBerardinisChildren's Medical Center Research Institute, The University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Department of Pediatrics, The University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Eugene McDermott Center for Human Growth and Development, The University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Howard Hughes Medical Institute, The University of Texas Southwestern Medical Center, Dallas, TX 75390, USA. Electronic address: ralph.deberardinis@utsouthwestern.edu.
The University of Texas Southwestern Medical Center · USChildren's Medical Center · USHoward Hughes Medical Institute · USCity of Hope · US

Funding

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 InstituteNICHD NIH HHS F32 HD096786
6 · The paper itself

Abstract

Inborn errors of metabolism (IEMs) link metabolic defects to human phenotypes. Modern genomics has accelerated IEM discovery, but assessing the impact of genomic variants is still challenging. Here, we integrate genomics and metabolomics to identify a cause of lactic acidosis and epilepsy. The proband is a compound heterozygote for variants in LIPT1, which encodes the lipoyltransferase required for 2-ketoacid dehydrogenase (2KDH) function. Metabolomics reveals abnormalities in lipids, amino acids, and 2-hydroxyglutarate consistent with loss of multiple 2KDHs. Homozygous knockin of a LIPT1 mutation reduces 2KDH lipoylation in utero and results in embryonic demise. In patient fibroblasts, defective 2KDH lipoylation and function are corrected by wild-type, but not mutant, LIPT1 alleles. Isotope tracing reveals that LIPT1 supports lipogenesis and balances oxidative and reductive glutamine metabolism. Altogether, the data extend the role of LIPT1 in metabolic regulation and demonstrate how integrating genomics and metabolomics can uncover broader aspects of IEM pathophysiology.

Indexed as

Loss of Function MutationAcidosis, LacticAcyltransferasesAnimalsCells, CulturedChildFatty AcidsFemaleFibroblastsGlutamineGlutaratesHumansLipogenesisLipoylationMaleMiceAcyltransferasesalpha-hydroxyglutarateFatty AcidsGlutamineGlutarateslipoyltransferase IOxygen2-ketoacid dehydrogenaseepilepsy,developmental delayfatty acid oxidationgenomicsinborn errors of metabolismlactic acidosislipogenesislipoylationmetabolomics

Identifiers

PMID31042466
PMCPMC7351313
OpenAlexW2943304682

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.