ArticleNutrients2022
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier.
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Article in Nutrients, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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19citing papers in PubMed, 1 pooled it
3.8field-weighted citation impact, top 6% of its field
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.
- The effects of probiotics on gastrointestinal symptoms and microbiota in patients with celiac disease: a systematic review and meta-analysis on clinical trials.Clinical and experimental medicine · 2023Pooled it
- Aspartate-Glutamate Carrier 1 (International journal of molecular sciences · 2026Review
- Ketogenic diet therapy in developmental and epileptic encephalopathies: toward syndrome- and gene-informed precision therapy.Frontiers in pediatrics · 2026Review
- Combined ketone body and glutamine supplementation restores aerobic energy production in AGC1-deficient neuronal progenitors.Cell death & disease · 2025Article
- Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movements.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Challenges in dietary management: a qualitative study on caregivers of preschool and school-age children with citrin deficiency.Orphanet journal of rare diseases · 2025Article
- Molecular basis of pyruvate transport and inhibition of the human mitochondrial pyruvate carrier.Science advances · 2025Article
- The Role of Mitochondrial Pyruvate Carrier in Neurological Disorders.Molecular neurobiology · 2025Review
- Current Understanding of Pathogenic Mechanisms and Disease Models of Citrin Deficiency.Journal of inherited metabolic disease · 2025Review
- Genetic aetiologies in relation to response to the ketogenic diet in 226 children with epilepsy.Brain communications · 2025Article
- My path to citrin deficiency.Journal of inherited metabolic disease · 2025Review
- Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review.Human mutation · 2025Article
- Citrin deficiency-The East-side story.Journal of inherited metabolic disease · 2024Review
- Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition.Journal of inherited metabolic disease · 2024Review
- Induced pluripotent stem cell-derived hepatocytes reveal TCA cycle disruption and the potential basis for triheptanoin treatment for malate dehydrogenase 2 deficiency.Molecular genetics and metabolism reports · 2024Article
- Efficacy and Safety of Ketogenic Diet Treatment in Pediatric Patients with Mitochondrial Disease.Nutrients · 2024Article
- Editorial for "The Role of Ketogenic Diet in Human Health and Diseases": The Multifaceted Impact of Ketogenic Diets on Health and Disease.Nutrients · 2023Article
- Fifty years of the mitochondrial pyruvate carrier: New insights into its structure, function, and inhibition.Acta physiologica (Oxford, England) · 2023Review
- Spotlight on GOT2 in Cancer Metabolism.OncoTargets and therapy · 2023Review
Corrections and comments
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Authors and funding
32 authors at 18 institutions in 7 countries.
Bigna K BölsterliDepartment of Pediatric Neurology, University Children's Hospital Zurich, 8032 Zurich, Switzerland.ORCID 0000-0003-0008-3339
Eugen BoltshauserDepartment of Pediatric Neurology (Emeritus), University Children's Hospital Zurich, 8032 Zurich, Switzerland.ORCID 0000-0002-0791-2905
Luigi PalmieriDepartment of Biosciences, Biotechnology and Biopharmaceutics, University of Bari Aldo Moro, 70125 Bari, Italy.ORCID 0000-0002-6503-2922
Johannes SpengerUniversity Children's Hospital, Paracelsus Medical University (PMU), 5020 Salzburg, Austria.ORCID 0000-0002-8519-1269
Michaela Brunner-KrainzDivision of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, 8036 Graz, Austria.
Felix DistelmaierDepartment of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Medical Faculty, Heinrich Heine University, 40225 Düsseldorf, Germany.ORCID 0000-0003-4304-7848
Peter FreisingerDepartment of Pediatrics, Klinikum Reutlingen, 72764 Reutlingen, Germany.ORCID 0000-0003-1675-9372
Tobias GeisUniversity Children's Hospital Regensburg (KUNO), Hospital St. Hedwig of the Order of St. John, University of Regensburg, 93049 Regensburg, Germany.ORCID 0000-0002-6941-3247
Andrea L GropmanDivision of Neurogenetics, Center for Neuroscience and Behavioral Medicine, Children's National Hospital, Washington, DC 20010, USA.ORCID 0000-0002-2106-6776
Johannes HäberleChildren's Research Center, University Children's Hospital Zurich, 8032 Zurich, Switzerland.ORCID 0000-0003-0635-091X
Julia HentschelInstitute of Human Genetics, University of Leipzig Hospitals and Clinics, 04103 Leipzig, Germany.ORCID 0000-0002-5706-1424
Bruno JeandidierAPHP, Service de Pédiatrie, CHU Jean Verdier, 93140 Bondy, France.
Daniela KarallClinic for Pediatrics, Division of Inherited Metabolic Disorders, Medical University of Innsbruck, 6020 Innsbruck, Austria.ORCID 0000-0002-4846-1047
Boris KerenDépartement de Génétique, Unité Fonctionnelle de Génomique du Développement, Hôpital Pitié-Salpêtrière, 75013 Paris, France.ORCID 0000-0001-6172-8247
Annick Klabunde-CherwonDivision of Paediatric Epileptology, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.
Vassiliki KonstantopoulouDepartment of Pediatrics and Adolescent Medicine, Medical University of Vienna, 1090 Vienna, Austria.
Raimund KottkeDepartment of Diagnostic Imaging, University Children's Hospital Zurich, 8032 Zurich, Switzerland.ORCID 0000-0003-0166-2770
Francesco M LasorsaDepartment of Biosciences, Biotechnology and Biopharmaceutics, University of Bari Aldo Moro, 70125 Bari, Italy.
Christine MakowskiDepartment of Paediatrics, Children's Hospital Munich Schwabing, MüK and TUM, 80804 Munich, Germany.
Cyril MignotDépartement de Génétique, Unité Fonctionnelle de Génomique du Développement, Hôpital Pitié-Salpêtrière, 75013 Paris, France.
Ruth O'Gorman TuuraChildren's Research Center, University Children's Hospital Zurich, 8032 Zurich, Switzerland.ORCID 0000-0001-5932-7786
Vito PorcelliDepartment of Biosciences, Biotechnology and Biopharmaceutics, University of Bari Aldo Moro, 70125 Bari, Italy.
René SanterDepartment of Pediatrics, University Medical Center Eppendorf, 20246 Hamburg, Germany.
Kuntal SenDivision of Neurogenetics, Center for Neuroscience and Behavioral Medicine, Children's National Hospital, Washington, DC 20010, USA.ORCID 0000-0002-1197-923X
Katja SteinbrückerDepartment of Neuropediatrics, Paracelsus Medical University Hospital Salzburg, 5020 Salzburg, Austria.
Steffen SyrbeDivision of Paediatric Epileptology, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.ORCID 0000-0003-2543-4844
Matias WagnerInstitute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany.ORCID 0000-0002-4454-8823
Andreas ZieglerDivision of Neuropaediatrics and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.
Thomas ZöggelerClinic for Pediatrics, Division of Inherited Metabolic Disorders, Medical University of Innsbruck, 6020 Innsbruck, Austria.ORCID 0000-0002-4991-2364
Johannes A MayrUniversity Children's Hospital, Paracelsus Medical University (PMU), 5020 Salzburg, Austria.ORCID 0000-0001-6970-336X
Holger ProkischInstitute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany.ORCID 0000-0003-2379-6286
Saskia B WortmannUniversity Children's Hospital, Paracelsus Medical University (PMU), 5020 Salzburg, Austria.
University Children's Hospital Zurich · CHHeidelberg University · DEParacelsus Medical University · ATChildren's National · USHelmholtz Zentrum München · DEInnsbruck Medical University · ATInstitute of Biomembranes, Bioenergetics and Molecular Biotechnologies · ITHeinrich Heine University Düsseldorf · DEHôpital Jean-Verdier · FRKreiskliniken Reutlingen · DEMedical University of Graz · ATMedical University of Vienna · ATRadboud University Nijmegen · NLUniversität Hamburg · DEUniversity Hospital Leipzig · DEUniversity of Bari Aldo Moro · ITUniversity of Regensburg · DEUniversity of Zurich · CH
Funding
Austrian Science Fund FWF I 4695Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerlan n/aDeutsche Forschungsgemeinschaft DI 1731/2-2Elterninitiative Kinderkrebsklinik e.V. #701900167Federal Ministry of Education and Research 01GM1207Federal Ministry of Education and Research 01GM1906BFederal Ministry of Education and Research 01KU2016AFWF Austrian Science Fund 4704-BFWF Austrian Science Fund I4695-BSwiss National Science Foundation grant 320030_176088 to J.H. (Johannes Häberle)
Abstract
The mitochondrial malate aspartate shuttle system (MAS) maintains the cytosolic NAD+/NADH redox balance, thereby sustaining cytosolic redox-dependent pathways, such as glycolysis and serine biosynthesis. Human disease has been associated with defects in four MAS-proteins (encoded by
Indexed as
CitrullinemiaDiet, KetogenicAspartic AcidCarbohydratesHumansMalatesMitochondrial Membrane Transport ProteinsMonocarboxylic Acid TransportersAspartic AcidCarbohydratesMalatesMitochondrial Membrane Transport ProteinsMonocarboxylic Acid TransportersSLC25A13 protein, humanAGC1aspartate glutamate carrier 1 deficiencycitrin deficiencyCitrullinemiaepilepsyhepatopathymitochondrial diseasemodified Atkins dietserinetreatment
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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.