ArticleHuman mutation2018
A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency.
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In one paragraph
Article in Human mutation, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
34citing papers in PubMed, 1 pooled it
1.9field-weighted citation impact, top 14% 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 52 citations in OpenAlex.
- COQ2-Associated Primary Coenzyme Q10 Deficiency Presenting With Proteinuria: A Case Report and Literature Review.Molecular genetics & genomic medicine · 2026Pooled it
- Bypass Treatments for Primary Coenzyme Q10 Deficiency: An Update.International journal of molecular sciences · 2026Review
- N-Acetylglucosamine Selectively Attenuates Neuroinflammation in a Mouse Model of Mitochondrial Dysfunction.Acta physiologica (Oxford, England) · 2026Article
- Mitochondrial Dysfunctions in Human Primary Coenzyme QBiomolecules · 2026Review
- Severe Neurological Presentation in Siblings WithJIMD reports · 2025Article
- Understanding coenzyme Q.Physiological reviews · 2024Review
- Metabolic Determinants of Cerebellar Circuit Formation and Maintenance.Cerebellum (London, England) · 2024Review
- Efficacy and Safety of Coenzyme Q10 Supplementation in Neonates, Infants and Children: An Overview.Antioxidants (Basel, Switzerland) · 2024Review
- Primary Coenzyme Q10 Deficiency-Related Ataxias.Journal of clinical medicine · 2024Review
- Association between coenzyme Q 10-related genetic polymorphisms and statin-associated myotoxicity in Korean stroke patients.Frontiers in pharmacology · 2024Article
- Congenital coenzyme Q5-linked pathology: causal genetic association, core phenotype, and molecular mechanism.Journal of applied genetics · 2023Article
- Primary Coenzyme Q10 Deficiency: An Update.Antioxidants (Basel, Switzerland) · 2023Review
- Phenotypic, molecular, and functional characterization of COQ7-related primary CoQMolecular genetics and metabolism · 2023Article
- Biosynthesis, Deficiency, and Supplementation of Coenzyme Q.Antioxidants (Basel, Switzerland) · 2023Review
- Neuroimaging in Primary Coenzyme-QAntioxidants (Basel, Switzerland) · 2023Review
- Involvement of Coenzyme Q10 in Various Neurodegenerative and Psychiatric Diseases.Biochemistry research international · 2023Review
- Predicting and Understanding the Pathology of Single Nucleotide Variants in HumanAntioxidants (Basel, Switzerland) · 2022Article
- Mitochondrial Epilepsy, a Challenge for Neurologists.International journal of molecular sciences · 2022Review
- Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype.NPJ genomic medicine · 2022Article
- A novelMolecular genetics and metabolism reports · 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
23 authors at 7 institutions in 4 countries.
May Christine V MalicdanNIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, 20892, Maryland, USA.ORCID 0000-0003-1697-6959
Thierry VilbouxMedical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, 20892, Maryland, USA.
Bruria Ben-ZeevPediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, 22042, Israel.
Jennifer GuoNIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, 20892, Maryland, USA.
Aviva EliyahuMetabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, 5621, Israel.
Ben Pode-ShakkedMetabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, 5621, Israel.
Amir DoriThe Dr. Pinchas Borenstein Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, 5621, Israel.
Sravan KakaniMedical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, 20892, Maryland, USA.
Settara C ChandrasekharappaCancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, 20892, Maryland, USA.ORCID 0000-0002-8084-0530
Carlos R FerreiraMedical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, 20892, Maryland, USA.
Natalia ShelestovichSackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, 69978, Israel.
Dina Marek-YagelMetabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, 5621, Israel.
Hadass Pri-ChenMedical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, 20892, Maryland, USA.
Ilan BlattDepartment of Neurology, Sheba Medical Center, Tel-Hashomer, 5621, Israel.
John E NiederhuberInova Translational Medicine Institute, Falls Church, 22042, Virginia, USA.
Langping HeWellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK.
Camilo ToroNIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, 20892, Maryland, USA.
Robert W TaylorWellcome Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK.
John DeekenInova Translational Medicine Institute, Falls Church, 22042, Virginia, USA.
Tal YardeniCenter for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia Research Institute, Philadelphia, USA.
Douglas C WallaceCenter for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia Research Institute, Philadelphia, USA.
William A GahlNIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, 20892, Maryland, USA.
Yair AniksterMetabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, 5621, Israel.
Tel Aviv University · ILNational Institutes of Health · USInova Health System · USChildren's Hospital of Philadelphia · USNational Human Genome Research Institute · USWellcome Centre for Mitochondrial Research · GBSheba Medical Center · IL
Funding
Human Biochemical GeneticsZIAHG000215 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI GAHL, WILLIAM · 2009 to 2025
$72.6MNHGRI/DIR Genomics CoreZICHG200346 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI CHANDRASEKHARAPPA, SETTARA · 2010 to 2025
$14.5MPOSITIONAL CLONING OF THE MEN1 GENEZIAHG000029 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI CHANDRASEKHARAPPA, SETTARA · 2009 to 2025
$13.3MMouse models for mitochondrial disorders caused by mutations in mtDNAR01OD010944 · OD · UNIVERSITY OF SOUTH ALABAMA · PI ALEXEYEV, MIKHAIL F., WALLACE, DOUGLAS C · 2012 to 2020
$2.6MIntramural NIH HHS ZIA HG000215Medical Research Council G0800674NIH HHS R01 OD010944Wellcome Trust
Abstract
Primary coenzyme Q10 (CoQ
Indexed as
BiopsyBiosynthetic PathwaysCerebellar AtaxiaDietary SupplementsDNA Copy Number VariationsElectron TransportFemaleFibroblastsGenetic Association StudiesHigh-Throughput Nucleotide SequencingHumansLeukocytesMethyltransferasesMitochondrial EncephalomyopathiesMitochondrial ProteinsMusclescoenzyme Q10COQ5 protein, humanMethyltransferasesMitochondrial ProteinsUbiquinonecerebellar ataxiaCoQ10COQ5encephalopathynext-generation sequencingpersonalized medicine
Identifiers
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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.