Evidence map›Paper›PMID 42403019›Full record

ArticleJournal of inherited metabolic disease2026

Biallelic Loss-Of-Function Variant in ATP5ME Is Associated With Severe and Early Onset Oxidative Phosphorylation Deficiency.

Pranavi Hegde, Aakanksha Anand, Rita Rani, Namanpreet Kaur, Ami Shah, Shilpa Kulkarni, Janani Supraja Mallavaram, Raghavender Medishetti, Amoolya Kandettu, Huzail Shaikh and 7 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of inherited metabolic disease, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Article
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

17 authors.

Pranavi HegdeDepartment of Public Health Genomics, Manipal School of Life Sciences, Manipal Academy of Higher Education, Manipal, India.
Aakanksha AnandDepartment of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.ORCID https://orcid.org/0000-0002-3458-0176
Rita RaniCenter for Innovation in Molecular and Pharmaceutical Sciences, Dr. Reddy's Institute of Life Sciences, University of Hyderabad Campus, Gachibowli, Hyderabad, India.
Namanpreet KaurDepartment of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
Ami ShahBai Jerbai Wadia Hospital for Children, Mumbai, India.
Shilpa KulkarniBai Jerbai Wadia Hospital for Children, Mumbai, India.
Janani Supraja MallavaramCenter for Innovation in Molecular and Pharmaceutical Sciences, Dr. Reddy's Institute of Life Sciences, University of Hyderabad Campus, Gachibowli, Hyderabad, India.
Raghavender MedishettiCenter for Innovation in Molecular and Pharmaceutical Sciences, Dr. Reddy's Institute of Life Sciences, University of Hyderabad Campus, Gachibowli, Hyderabad, India.
Amoolya KandettuDepartment of Public Health Genomics, Manipal School of Life Sciences, Manipal Academy of Higher Education, Manipal, India.
Huzail ShaikhDepartment of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
Shahyan SiddiquiDepartment of Radiology, NMC Royal Hospital, Dubai Investment Park, Dubai, UAE.
Purvi MajethiaDepartment of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.ORCID https://orcid.org/0000-0002-2364-4111
Vivekananda BhatDepartment of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
Periyasamy RadhakrishnanDepartment of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
Aarti SevilimeduCenter for Innovation in Molecular and Pharmaceutical Sciences, Dr. Reddy's Institute of Life Sciences, University of Hyderabad Campus, Gachibowli, Hyderabad, India.ORCID https://orcid.org/0000-0003-2856-0213
Sanjiban ChakrabartyDepartment of Public Health Genomics, Manipal School of Life Sciences, Manipal Academy of Higher Education, Manipal, India.ORCID https://orcid.org/0000-0002-6018-8098
Anju ShuklaDepartment of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.ORCID https://orcid.org/0000-0001-8938-4941

Funding

DBT/Wellcome Trust India Alliance for the study, "Centre for Rare Disease Diagnosis, Research and Training" IA/CRC/20/1/600002Department of Health Research for the study, "Delineating the genomic basis of neurodegeneration and mitochondrial disorders associated with defective DNA break repair" R.11014/33/2023-GIA/HR
6 · The paper itself

Abstract

ATP synthase (complex V) catalyzes ATP synthesis and is composed of the F

Indexed as

Loss of Function MutationMitochondrial DiseasesMitochondrial Proton-Translocating ATPasesOxidative PhosphorylationAnimalsChild, PreschoolExome SequencingHumansMaleMitochondriaPedigreeZebrafishMitochondrial Proton-Translocating ATPasesATP5MEATP synthasecomplex V deficiencymitochondrial bioenergeticsmitochondrial encephalopathyoxidative phosphorylationOXPHOSsubunit ezebrafish

Identifiers

PMID42403019
PMCPMC13334235

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.