Evidence map›Paper›PMID 42875586›Full record

ArticleEMBO molecular medicine2026

RMND1 dysfunction causes OXPHOS deficiency and alters mitoribosomal protein homeostasis in vivo.

Alba Pesini, Maria J Sanchez-Quintero, Carlos Lopez-Gomez, Eliana Barriocanal-Casado, Agustin Hidalgo-Gutierrez, Eva Nyvltova, Joanna Rorbach, Giulio Kleiner, May T Ting, Christian Garcia and 8 more

Abstract read
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In one paragraph

Article in EMBO molecular medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

18 authors.

Alba Pesini *Department of Neurology, Columbia University Irving Medical Center, New York, NY, 10032, USA.
Maria J Sanchez-Quintero *Department of Neurology, Columbia University Irving Medical Center, New York, NY, 10032, USA.ORCID http://orcid.org/0000-0002-5638-2920
Carlos Lopez-GomezDepartment of Neurology, Columbia University Irving Medical Center, New York, NY, 10032, USA.ORCID http://orcid.org/0000-0003-2699-451X
Eliana Barriocanal-CasadoDepartment of Neurology, Columbia University Irving Medical Center, New York, NY, 10032, USA.ORCID http://orcid.org/0000-0001-8828-1182
Agustin Hidalgo-GutierrezDepartment of Neurology, Columbia University Irving Medical Center, New York, NY, 10032, USA.
Eva NyvltovaDepartment of Neurology, University of Miami Miller School of Medicine, Miami, FL, 33136, USA.ORCID http://orcid.org/0000-0002-6607-2838
Joanna RorbachMRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, CB2 0XY, UK.
Giulio KleinerDepartment of Neurology, Columbia University Irving Medical Center, New York, NY, 10032, USA.ORCID http://orcid.org/0000-0002-1830-3961
May T TingDepartment of Neurology, Columbia University Irving Medical Center, New York, NY, 10032, USA.
Christian GarciaDepartment of Physiology and Cellular Biophysics, Columbia University Irving Medical Center, New York, NY, 10032, USA.
Lucia Dec-PratDepartment of Neurology, Columbia University Irving Medical Center, New York, NY, 10032, USA.
Kurenai TanjiDepartment of Neurology, Columbia University Irving Medical Center, New York, NY, 10032, USA.
Christopher B DamociOncology Precision Therapeutics and Imaging Core (OPTIC) at the Herbert Irving Comprehensive Cancer Center, New York, NY, 10032, USA.
Robert McFarlandMitochondrial Research Group, Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University, Newcastle Upon Tyne, NE2 4HH, UK.ORCID http://orcid.org/0000-0002-8833-2688
Robert W TaylorMitochondrial Research Group, Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University, Newcastle Upon Tyne, NE2 4HH, UK.ORCID http://orcid.org/0000-0002-7768-8873
Michal MinczukMRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, CB2 0XY, UK.
Antoni BarrientosDepartment of Neurology, University of Miami Miller School of Medicine, Miami, FL, 33136, USA.ORCID http://orcid.org/0000-0001-9018-3231
Catarina M QuinziiDepartment of Neurology, Columbia University Irving Medical Center, New York, NY, 10032, USA. cmq2101@cumc.columbia.edu.ORCID http://orcid.org/0000-0003-3819-1298

Funding

Tumor Biology and Microenvironment ProgramP30CA013696 · NCI · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI Anil K Rustgi · 1985 to 2026
$115.3M
2026 Summer Gateway to Mitochondrial Medicine GMM-26-0000000002Muscle Dystrophy Association MDA144184Muscle Dystrophy Association MDA295105Muscular Dystrophy UK (MDUK) 23SI-PRG60-0013National Cancer Institute, NIH P30 CA013696UKRI Medical Research Council MR/W019027/1UKRI | Medical Research Council (MRC) MR/W019027/1Welcome Center for Mitochondrial Research 203105/Z/16/ZWellcome Centre for Mitochondrial Research 203105/Z/16/Z
6 · The paper itself

Abstract

Pathogenic, bi-allelic variants in RMND1 typically manifest as an early-onset multisystemic mitochondrial disease, yet the consequences of RMND1 dysfunction in vivo remain poorly understood. To answer this question, we generated and characterized the first in vivo model of RMND1-related disease, carrying the recurrent p.(Asn238Ser) variant. Homozygous Rmnd1

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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.