ArticleEMBO molecular medicine2018
Open access · goldAbstract readCase Reports
In one paragraph
Article in EMBO molecular medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
0numbers the graph read from it
0cells of the map it votes in
43citing papers in PubMed
3.2field-weighted citation impact, top 7% of its field
What it found
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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.
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.
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Who cites it
43 citing papers in PubMed, 84 citations in OpenAlex.
- Membrane insertion of mitochondrial-encoded proteins regulates ribosome decoding speed.Nature structural & molecular biology · 2026Article
- OXA1L deficiency causes mitochondrial myopathy via reactive oxygen species regulated nuclear factor kappa B signalling pathway.Clinical and translational medicine · 2025Article
- Astaxanthin supplementation in Arabian racing horses mitigates oxidative stress and inflammation in peripheral blood mononuclear cells through enhanced mitophagy.Scientific reports · 2025Article
- Case Report: autosomal dominant distal motor neuropathy as a new phenotype ofFrontiers in genetics · 2025Article
- LETMD1 regulates mitochondrial protein synthesis and import to guard brown fat mitochondrial integrity and function.iScience · 2024Article
- Loss of atrial natriuretic peptide signaling causes insulin resistance, mitochondrial dysfunction, and low endurance capacity.Science advances · 2024Article
- Article
- Illuminating mitochondrial translation through mouse models.Human molecular genetics · 2024Review
- More than Just Bread and Wine: Using Yeast to Understand Inherited Cytochrome Oxidase Deficiencies in Humans.International journal of molecular sciences · 2024Review
- Identification of TMEM126A as OXA1L-interacting protein reveals cotranslational quality control in mitochondria.Molecular cell · 2024Article
- Molecular pathways in mitochondrial disorders due to a defective mitochondrial protein synthesis.Frontiers in cell and developmental biology · 2024Review
- A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy.European journal of human genetics : EJHG · 2023Article
- Mitochondrial microproteins: critical regulators of protein import, energy production, stress response pathways, and programmed cell death.American journal of physiology. Cell physiology · 2023Review
- Dysfunctional mitochondria accumulate in a skeletal muscle knockout model of Smn1, the causal gene of spinal muscular atrophy.Cell death & disease · 2023Article
- Mitochondrial biology and dysfunction in secondary mitochondrial disease.Open biology · 2022Review
- Proteomics-based evaluation of the mechanism underlying vascular injury via DNA interstrand crosslinks, glutathione perturbation, mitogen-activated protein kinase, and Wnt and ErbB signaling pathways induced by crotonaldehyde.Clinical proteomics · 2022Article
- CG7630 is the Drosophila melanogaster homolog of the cytochrome c oxidase subunit COX7B.EMBO reports · 2022Article
- S1P defects cause a new entity of cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome.EMBO molecular medicine · 2022Article
- Translation of MT-ATP6 pathogenic variants reveals distinct regulatory consequences from the co-translational quality control of mitochondrial protein synthesis.Human molecular genetics · 2022Article
- The ER membrane complex (EMC) can functionally replace the Oxa1 insertase in mitochondria.PLoS biology · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
25 authors at 8 institutions in 5 countries.
Kyle ThompsonWellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK.
Nicole MaiWellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK.
Monika OláhováWellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK.
Filippo ScialóInstitute for Cell and Molecular Biosciences, Newcastle University Institute for Ageing, Newcastle University, Newcastle upon Tyne, UK.
Luke E FormosaDepartment of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, Vic., Australia.
David A StroudDepartment of Biochemistry and Molecular Biology and The Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Vic., Australia.
Madeleine GarrettDepartment of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, Vic., Australia.
Nichola Z LaxWellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK.
Fiona M RobertsonWellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK.
Cristina JouPathology Department, Hospital Sant Joan de Déu, CIBERER, Barcelona, Spain.
Andres NascimentoNeuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, CIBERER - ISCIII, Barcelona, Spain.
Carlos OrtezNeuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, CIBERER - ISCIII, Barcelona, Spain.
Cecilia Jimenez-MallebreraNeuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, CIBERER - ISCIII, Barcelona, Spain.
Steven A HardyWellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK.
Langping HeWellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK.
Garry K BrownOxford Medical Genetics Laboratories, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Paula MarttinenInstitute of Biotechnology, University of Helsinki, Helsinki, Finland.
Robert McFarlandWellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK.ORCID 0000-0002-8833-2688
Alberto SanzInstitute for Cell and Molecular Biosciences, Newcastle University Institute for Ageing, Newcastle University, Newcastle upon Tyne, UK.
Brendan J BattersbyInstitute of Biotechnology, University of Helsinki, Helsinki, Finland.ORCID 0000-0002-8136-2753
Penelope E BonnenDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Michael T RyanDepartment of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, Vic., Australia.
Zofia Ma Chrzanowska-LightowlersWellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK.
Robert N LightowlersWellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK.
Robert W TaylorWellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK robert.taylor@ncl.ac.uk.ORCID 0000-0002-7768-8873
Wellcome Centre for Mitochondrial Research · GBHospital Sant Joan de Déu Barcelona · ESAustralian Regenerative Medicine Institute · AUNewcastle University · GBUniversity of Helsinki · FIBaylor College of Medicine · USChurchill Hospital · GBThe University of Melbourne · AU
Funding
Personalized Functional Genomics for Mitochondrial Encephalopathy Gene DiscoveryR01NS083726 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI BONNEN, PENELOPE E · 2014 to 2025
$6.1MBiotechnology and Biological Sciences Research Council BB/M023311/1Medical Research Council G0800674NINDS NIH HHS R01 NS083726Wellcome TrustWellcome Trust 203105/Z/16/Z
Abstract
OXA1, the mitochondrial member of the YidC/Alb3/Oxa1 membrane protein insertase family, is required for the assembly of oxidative phosphorylation complexes IV and V in yeast. However, depletion of human OXA1 (OXA1L) was previously reported to impair assembly of complexes I and V only. We report a patient presenting with severe encephalopathy, hypotonia and developmental delay who died at 5 years showing complex IV deficiency in skeletal muscle. Whole exome sequencing identified biallelic
Indexed as
Oxidative PhosphorylationAmino Acid SequenceAnimalsBase SequenceChild, PreschoolDNA, MitochondrialDrosophilaElectron Transport Chain Complex ProteinsElectron Transport Complex IVFatal OutcomeFibroblastsHEK293 CellsHumansInfantMaleMitochondriaDNA, MitochondrialElectron Transport Chain Complex ProteinsElectron Transport Complex IVMitochondrial ProteinsNuclear ProteinsOXA1 proteinencephalopathyinsertasemitochondriaOXA1LOXPHOS
Identifiers
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.