ArticleHGG advances2022
Biallelic variants in
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In one paragraph
Article in HGG advances, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
–field-weighted citation impact
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.
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Who cites it
13 citing papers in PubMed.
- Disrupted Mitochondrial Quality Control in Atherosclerotic Disease: Mitophagy and Dynamics in Focus.JACC. Basic to translational science · 2026Review
- Mitochondrial DNA release and inflammation in mitochondrial disease pathogenesis.Brain : a journal of neurology · 2026Review
- Functional characterisation of PREL-1 and PREL-3 proteins as putative intramitochondrial phospholipid transporters governing homeostasis and organismal health inFrontiers in molecular biosciences · 2026Article
- GLP-1R associates with VAPB and SPHKAP at ERMCSs to regulate β-cell mitochondrial remodelling and function.Nature communications · 2025Article
- Fluvoxamine Attenuates Blood-Brain Barrier Disruption in Drug-Resistance Epilepsy and inhibits Ferroptosis via the Sigma-1 Receptor-TAMM41 signaling in bEnd.3 cells.Molecular neurobiology · 2025Article
- High-Resolution Core Gene-Associated Multiple Nucleotide Polymorphism (cgMNP) Markers for Strain Identification in the Wine Cap MushroomMicroorganisms · 2025Article
- Glycerophospholipids: Roles in Cell Trafficking and Associated Inborn Errors.Journal of inherited metabolic disease · 2025Review
- Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome.Brain : a journal of neurology · 2025Article
- Mitochondrial membrane synthesis, remodelling and cellular trafficking.Journal of inherited metabolic disease · 2025Review
- Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia.Brain : a journal of neurology · 2024Article
- The critical role of cardiolipin in metazoan differentiation, development, and maturation.Developmental dynamics : an official publication of the American Association of Anatomists · 2023Review
- Advances in methods to analyse cardiolipin and their clinical applications.Trends in analytical chemistry : TRAC · 2022Article
- Article
Corrections and comments
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Authors and funding
26 authors.
Kyle ThompsonWellcome Centre for Mitochondrial Research, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne NE2 4HH, UK.
Lucas BianchiINSERM UMR1163, Université Paris Cité, Institut Imagine, 75015 Paris, France.
Francesca RastelliWellcome Centre for Mitochondrial Research, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne NE2 4HH, UK.
Florence Piron-PrunierUniversité Paris-Saclay, CEA, CNRS, Institute for Integrative Biology of the Cell (I2BC), 91198 Gif-sur-Yvette, France.
Sophie AyciriexUniv Lyon, CNRS, Université Claude Bernard Lyon 1, Institut des Sciences Analytiques, UMR 5280, 5 rue de la Doua, 69100 Villeurbanne, France.
Claude BesmondINSERM UMR1163, Université Paris Cité, Institut Imagine, 75015 Paris, France.
Laurence HubertINSERM UMR1163, Université Paris Cité, Institut Imagine, 75015 Paris, France.
Magalie BarthService de Génétique, Centre Hospitalier Universitaire Angers, Angers, France.
Inês A BarbosaDivision of Genetics and Molecular Medicine, King's College London School of Medicine, Guy's Hospital, London SE1 9RT, UK.
Charu DeshpandeClinical Genetics Unit, Guys and St. Thomas' NHS Foundation Trust, London SE1 9RT, UK.
Manali ChitreCambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, UK.
Sarju G MehtaCambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, UK.
Eric J M WeverLaboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Departments of Clinical Chemistry and Pediatrics, Amsterdam Gastroenterology Endocrinology Metabolism, 1105 AZ Amsterdam, the Netherlands.
Pascale MarcorellesDepartment of Pathology, EA4586 LIEN Université de Brest, CHRU Brest, 29609 Brest, France.
Sandra DonkervoortNational Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
Dimah SaadeNational Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
Carsten G BönnemannNational Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
Katherine R ChaoCenter for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Chunyu CaiDepartments of Pediatrics and Neurology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
Susan T IannacconeDepartments of Pediatrics and Neurology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
Andrew F DeanCambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, UK.
Robert McFarlandWellcome Centre for Mitochondrial Research, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne NE2 4HH, UK.
Frédéric M VazLaboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Departments of Clinical Chemistry and Pediatrics, Amsterdam Gastroenterology Endocrinology Metabolism, 1105 AZ Amsterdam, the Netherlands.
Agnès DelahoddeUniversité Paris-Saclay, CEA, CNRS, Institute for Integrative Biology of the Cell (I2BC), 91198 Gif-sur-Yvette, France.
Robert W TaylorWellcome Centre for Mitochondrial Research, Clinical and Translational Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle Upon Tyne NE2 4HH, UK.
Agnès RötigINSERM UMR1163, Université Paris Cité, Institut Imagine, 75015 Paris, France.
Funding
Molecular and Clinical Manifestations of Matrix and Aggregate MyopathiesZIANS003129 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI BÖNNEMANN, CARSTEN · 2011 to 2025
$52.8MJoint Center for Mendelian GenomicsUM1HG008900 · NHGRI · BROAD INSTITUTE, INC. · PI O'DONNELL-LURIA, ANNE, REHM, HEIDI L · 2016 to 2020
$16.5MNHGRI NIH HHS UM1 HG008900Wellcome Trust
Abstract
Mitochondrial disorders are clinically and genetically heterogeneous, with variants in mitochondrial or nuclear genes leading to varied clinical phenotypes.
Indexed as
cardiolipinmitochondriamitochondrial diseasemitochondrial phospholipidOXPHOS defectWES/WGS
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What OpenQuestion holds
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LicenceCC BY-NC-ND
Read underepoch 390
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.