Evidence map›Paper›PMID 39233737›Full record

ArticleFrontiers in genetics2024

Severe mitochondrial encephalomyopathy caused by

Michela Di Nottia, Teresa Rizza, Enrico Baruffini, Claudia Nesti, Alessandra Torraco, Daria Diodato, Diego Martinelli, Flavio Dal Canto, Alexandru Ionut Gilea, Martina Zoccola and 6 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. The power of many: when genetics met yeasts and high-throughput.Biological reviews of the Cambridge Philosophical Society · 2026
    Review
  2. 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

16 authors.

Michela Di NottiaUnit of Cell Biology and Diagnosis of Mitochondrial Disorders, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Teresa RizzaUnit of Cell Biology and Diagnosis of Mitochondrial Disorders, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Enrico BaruffiniDepartment of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy.
Claudia NestiMolecular Medicine, IRCCS Stella Maris Foundation, Pisa, Italy.
Alessandra TorracoUnit of Cell Biology and Diagnosis of Mitochondrial Disorders, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Daria DiodatoNeuromuscular Disorders Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Diego MartinelliDivision of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
Flavio Dal CantoMolecular Medicine, IRCCS Stella Maris Foundation, Pisa, Italy.
Alexandru Ionut GileaDepartment of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy.
Martina ZoccolaUnit of Cell Biology and Diagnosis of Mitochondrial Disorders, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Barbara SiriDivision of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
Carlo Dionisi-ViciDivision of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
Enrico BertiniNeuromuscular Disorders Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Filippo Maria SantorelliMolecular Medicine, IRCCS Stella Maris Foundation, Pisa, Italy.
Paola GoffriniDepartment of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, Italy.
Rosalba CarrozzoUnit of Cell Biology and Diagnosis of Mitochondrial Disorders, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Mitochondria adjust their shape in response to the different energetic and metabolic requirements of the cell, through extremely dynamic fusion and fission events. Several highly conserved dynamin-like GTPases are involved in these processes and, among those, the OPA1 protein is a key player in the fusion of inner mitochondrial membranes. Hundreds of monoallelic or biallelic pathogenic gene variants have been described in Methods: Here we report two patients harboring novel de novo variants in Results: The two patients here reported manifest with neurological signs resembling Leigh syndrome, thus further expanding the clinical spectrum associated with variants in Conclusion: We have described two novel-single

Indexed as

encephalomyopathymitochondrial diseasesmitochondrial dynamicsOPA1optic atrophy

Identifiers

PMID39233737
PMCPMC11372846

What OpenQuestion holds

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Registered trials

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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.