Evidence map›Paper›PMID 36836802›Full record

ArticleLife (Basel, Switzerland)2023

Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy.

Cérane Cafournet, Sofia Zanin, Anne Guimier, Marie Hully, Zahra Assouline, Giulia Barcia, Pascale de Lonlay, Julie Steffann, Arnold Munnich, Jean-Paul Bonnefont and 3 more

Open access · goldAbstract read
In one paragraph

Article in Life (Basel, Switzerland), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
1.1field-weighted citation impact, top 23% 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

7 citing papers in PubMed, 7 citations in OpenAlex.

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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 3 institutions in 1 country.

Cérane CafournetLaboratory for Genetics of Mitochondrial Disorders, Imagine Institute, Université Paris Cité, INSERM U1163, 75015 Paris, France.ORCID 0000-0001-8880-5441
Sofia ZaninLaboratory for Genetics of Mitochondrial Disorders, Imagine Institute, Université Paris Cité, INSERM U1163, 75015 Paris, France.
Anne GuimierLaboratory of Embryology and Genetics of Human Malformations, Imagine Institute, Université Paris Cité, INSERM U1163, 75015 Paris, France.
Marie HullyPediatric Neurology Department, Necker Enfants Malades Hospital, AP-HP, Institute Imagine, Université Paris Cité, INSERM U1163, 75015 Paris, France.
Zahra AssoulineDepartment of Genetics, Reference Center for Mitochondrial Diseases (CARAMMEL), Necker Enfants Malades Hospital, 75015 Paris, France.
Giulia BarciaDepartment of Genetics, Reference Center for Mitochondrial Diseases (CARAMMEL), Necker Enfants Malades Hospital, 75015 Paris, France.
Pascale de LonlayReference Center for Inherited Metabolic Diseases, Necker Enfants Malades Hospital, Imagine Institute, Université Paris Cité, INEM-1151, G2M, MetabERN, 75015 Paris, France.
Julie SteffannLaboratory for Genetics of Mitochondrial Disorders, Imagine Institute, Université Paris Cité, INSERM U1163, 75015 Paris, France.ORCID 0000-0001-5259-4144
Arnold MunnichLaboratory for Genetics of Mitochondrial Disorders, Imagine Institute, Université Paris Cité, INSERM U1163, 75015 Paris, France.
Jean-Paul BonnefontLaboratory for Genetics of Mitochondrial Disorders, Imagine Institute, Université Paris Cité, INSERM U1163, 75015 Paris, France.
Agnès RötigLaboratory for Genetics of Mitochondrial Disorders, Imagine Institute, Université Paris Cité, INSERM U1163, 75015 Paris, France.ORCID 0000-0003-0589-0703
Benedetta RuzzenenteLaboratory for Genetics of Mitochondrial Disorders, Imagine Institute, Université Paris Cité, INSERM U1163, 75015 Paris, France.ORCID 0000-0001-7366-114X
Metodi D MetodievLaboratory for Genetics of Mitochondrial Disorders, Imagine Institute, Université Paris Cité, INSERM U1163, 75015 Paris, France.
Inserm · FRHôpital Necker-Enfants Malades · FRUniversité Paris Cité · FR

Funding

Agence Nationale de la Recherche GENOMITANR-15-RAR3-0012-07French Muscular Dystrophy Association 19876, 22529
6 · The paper itself

Abstract

Transcription of mitochondrial DNA generates long polycistronic precursors whose nucleolytic cleavage yields the individual mtDNA-encoded transcripts. In most cases, this cleavage occurs at the 5'- and 3'-ends of tRNA sequences by the concerted action of RNAseP and RNaseZ/ELAC2 endonucleases, respectively. Variants in the

Indexed as

cardiomyopathyELAC2mitochondrial diseaseneurological diseaseRNA processing

Identifiers

PMID36836802
PMCPMC9958991
OpenAlexW4319316487

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.