Evidence map›Paper›PMID 36983025›Full record

ReviewInternational journal of molecular sciences2023

Inherited Disorders of Coenzyme A Biosynthesis: Models, Mechanisms, and Treatments.

Chiara Cavestro, Daria Diodato, Valeria Tiranti, Ivano Di Meo

Open access · goldAbstract readReview
In one paragraph

Review 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 15 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed, 1 pooled it
2.5field-weighted citation impact, top 11% 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

15 citing papers in PubMed, 1 synthesis or guideline pooled it, 20 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Article
  4. Article
  5. Article
  6. International journal of neonatal screening · 2026
    Article
  7. Article
  8. Liver lipid droplet cholesterol content is a key determinant of metabolic dysfunction-associated steatohepatitis.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  9. Article
  10. Article
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  12. Article
  13. Article
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  15. Review
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

4 authors at 2 institutions in 1 country.

Chiara CavestroUnit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.ORCID 0000-0002-6157-2403
Daria DiodatoUnit of Muscular and Neurodegenerative Disorders, Ospedale Pediatrico Bambino Gesù, 00165 Rome, Italy.
Valeria TirantiUnit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.ORCID 0000-0002-3584-7338
Ivano Di MeoUnit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.ORCID 0000-0002-4616-5623
Fondazione IRCCS Istituto Neurologico Carlo Besta · ITBambino Gesù Children's Hospital · IT

Funding

Ministero della Salute GR-2018-12365610Ministero della Salute RRC
6 · The paper itself

Abstract

Coenzyme A (CoA) is a vital and ubiquitous cofactor required in a vast number of enzymatic reactions and cellular processes. To date, four rare human inborn errors of CoA biosynthesis have been described. These disorders have distinct symptoms, although all stem from variants in genes that encode enzymes involved in the same metabolic process. The first and last enzymes catalyzing the CoA biosynthetic pathway are associated with two neurological conditions, namely pantothenate kinase-associated neurodegeneration (PKAN) and COASY protein-associated neurodegeneration (CoPAN), which belong to the heterogeneous group of neurodegenerations with brain iron accumulation (NBIA), while the second and third enzymes are linked to a rapidly fatal dilated cardiomyopathy. There is still limited information about the pathogenesis of these diseases, and the knowledge gaps need to be resolved in order to develop potential therapeutic approaches. This review aims to provide a summary of CoA metabolism and functions, and a comprehensive overview of what is currently known about disorders associated with its biosynthesis, including available preclinical models, proposed pathomechanisms, and potential therapeutic approaches.

Indexed as

Cardiomyopathy, DilatedPantothenate Kinase-Associated NeurodegenerationBiosynthetic PathwaysCoenzyme AHumansIronPhosphotransferases (Alcohol Group Acceptor)Coenzyme AIronPhosphotransferases (Alcohol Group Acceptor)cardiomyopathyCOASYcoenzyme Airon accumulationNBIAneurodegenerationPANK2PPCDCPPCS

Identifiers

PMID36983025
PMCPMC10054636
OpenAlexW4353090133

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.