ArticleJournal of inherited metabolic disease2020
Clinical presentation and proteomic signature of patients with TANGO2 mutations.
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Article in Journal of inherited metabolic disease, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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39citing papers in PubMed
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39 citing papers in PubMed, 58 citations in OpenAlex.
- Metabolic crisis and TRPM4 activation cause QT prolongation in TANGO2 deficiency disorder.Cardiovascular research · 2026Article
- Oligodendroglial TANGO2 Regulates Lipid Metabolism to Control Motor Coordination.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Article
- It Takes 2 (Repeats) to Lose TANGO2.Neurology. Genetics · 2026Article
- Long-Read HiFi Genome Sequencing Resolves Retrotransposon-Mediated Deletions in TANGO2 Deficiency Disorder.Neurology. Genetics · 2026Article
- The crystal structure of human transport and Golgi organization 2 homolog (TANGO2) suggests a cysteine N-terminal nucleophile (Ntn) hydrolase.Acta crystallographica. Section D, Structural biology · 2026Article
- Preimplantation genetic testing and prenatal diagnosis of TANGO2 deficiency disorder with biallelic pathogenic variants using single-nucleotide polymorphism-based haplotyping and gap-polymerase chain reaction.Frontiers in genetics · 2026Article
- Systems-Level Integration of Multi-Omics Identifies Genetic Modifiers of TANGO2 Deficiency Disorder.Biomolecules · 2025Article
- Mechanisms of heme transport in the mitochondria.Biochemical Society transactions · 2025Review
- TANGO2 binds crystallin alpha B and its loss causes desminopathy.Nature communications · 2025Article
- TANGO2-related rhabdomyolysis symptoms are associated with abnormal autophagy functioning.Autophagy reports · 2024Article
- Clinical case report of intractable paroxysmal sympathetic hyperactivity in TANGO2 deficiency disorder.American journal of medical genetics. Part A · 2024Article
- Folate as a potential treatment for lethal ventricular arrhythmias in TANGO2-deficiency disorder.JCI insight · 2024Article
- TANGO2 deficiency disease is predominantly caused by a lipid imbalance.Disease models & mechanisms · 2024Review
- The evaluation of inherited metabolic diseases presenting with rhabdomyolysis from Turkey: Single center experience.Molecular genetics and metabolism reports · 2024Article
- Article
- Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease.Journal of neuromuscular diseases · 2024Article
- Review: Genes Involved in Mitochondrial Physiology Within 22q11.2 Deleted Region and Their Relevance to Schizophrenia.Schizophrenia bulletin · 2023Article
- Early initiation of B-vitamin supplementation may reduce symptoms and explain intrafamilial variability: Insights from two sibling pairs from the TANGO2 natural history study.American journal of medical genetics. Part A · 2023Article
- Intrinsic and extrinsic regulation of rhabdomyolysis susceptibility by Tango2.Disease models & mechanisms · 2023Article
- Notes from the Underground: Heme Homeostasis inBiomolecules · 2023Review
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Authors and funding
43 authors at 20 institutions in 7 countries.
Nadja MingirulliDepartment of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Breisgau, Germany.
Angela PyleWellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
Denisa HathaziBiomedical Research Department, Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V, Dortmund, Germany.
Charlotte L AlstonWellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
Nicolai KohlschmidtInstitute of Clinical Genetics and Tumor Genetics, Bonn, Germany.
Gina O'GradyKid's Neuroscience Centre, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
Leigh WaddellKid's Neuroscience Centre, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
Frances EvessonKid's Neuroscience Centre, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
Sandra B T CooperKid's Neuroscience Centre, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
Christian TurnerDiscipline of Child and Adolescent Health, The University of Sydney, Sydney, New South Wales, Australia.
Jennifer DuffWellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
Ana TopfJohn Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
Delia YuberoDepartment of Clinical Biochemistry, Genetics, Pediatric Neurology and Cardiology and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER, Instituto de Salud Carlos III Barcelona, Barcelona, Spain.
Cristina JouDepartment of Clinical Biochemistry, Genetics, Pediatric Neurology and Cardiology and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER, Instituto de Salud Carlos III Barcelona, Barcelona, Spain.
Andrés NascimentoDepartment of Clinical Biochemistry, Genetics, Pediatric Neurology and Cardiology and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER, Instituto de Salud Carlos III Barcelona, Barcelona, Spain.
Carlos OrtezDepartment of Clinical Biochemistry, Genetics, Pediatric Neurology and Cardiology and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER, Instituto de Salud Carlos III Barcelona, Barcelona, Spain.
Angels García-CazorlaDepartment of Clinical Biochemistry, Genetics, Pediatric Neurology and Cardiology and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER, Instituto de Salud Carlos III Barcelona, Barcelona, Spain.
Claudia GrossWellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
Maria O'CallaghanDepartment of Clinical Biochemistry, Genetics, Pediatric Neurology and Cardiology and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER, Instituto de Salud Carlos III Barcelona, Barcelona, Spain.
Saikat SantraBirmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
Maryanne A PreeceBirmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
Michael ChampionDepartment of Inherited Disease, St Thomas Hospital, London, UK.
Sergei KorenevDepartment of Inherited Disease, St Thomas Hospital, London, UK.
Efsthatia ChronopoulouSouth West Regional Metabolic Department, Bristol Royal Hospital for Children, Bristol, UK.
Majumdar AnirbanSouth West Regional Metabolic Department, Bristol Royal Hospital for Children, Bristol, UK.
Germaine PierreSouth West Regional Metabolic Department, Bristol Royal Hospital for Children, Bristol, UK.
Daniel McArthurCenter for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
Kyle ThompsonKid's Neuroscience Centre, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
Placido NavasCentro Andaluz de Biología del Desarrollo, Uníversidad Pablo de Olavide-CSIC-JA and CIBERER, Instituto de Salud Carlos III, Madrid, Spain.
Antonia RibesSecció d'Errors Congènits del Metabolisme - IBC, Servei de Bioquímica I Genètìca Molecular, Hospital Clínìc, IDIBAPS, CIBERER, Barcelona, Spain.
Frederic TortSecció d'Errors Congènits del Metabolisme - IBC, Servei de Bioquímica I Genètìca Molecular, Hospital Clínìc, IDIBAPS, CIBERER, Barcelona, Spain.
Agatha SchlüterNeurometabolic Diseases Laboratory, Institut d'Investìgacío Biomedíca de Bellvitge (IDIBELL), and Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
Aurora PujolCatalan Institution of Research and Advanced Studies (ICREA), Barcelona, Spain.
Raquel MonteroDepartment of Clinical Biochemistry, Genetics, Pediatric Neurology and Cardiology and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER, Instituto de Salud Carlos III Barcelona, Barcelona, Spain.
Georgia SarquellaDepartment of Clinical Biochemistry, Genetics, Pediatric Neurology and Cardiology and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER, Instituto de Salud Carlos III Barcelona, Barcelona, Spain.
Hanns LochmüllerDepartment of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Breisgau, Germany.
Cecilia Jiménez-MallebreraDepartment of Clinical Biochemistry, Genetics, Pediatric Neurology and Cardiology and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER, Instituto de Salud Carlos III Barcelona, Barcelona, Spain.
Robert W TaylorKid's Neuroscience Centre, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
Rafael ArtuchDepartment of Clinical Biochemistry, Genetics, Pediatric Neurology and Cardiology and Biobank, Institut de Recerca Sant Joan de Déu and CIBERER, Instituto de Salud Carlos III Barcelona, Barcelona, Spain.
Janbernd KirschnerDepartment of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Breisgau, Germany.
Sarah C GrünertDepartment of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Breisgau, Germany.
Andreas RoosBiomedical Research Department, Leibniz-Institut für Analytische Wissenschaften - ISAS - e.V, Dortmund, Germany.
Rita HorvathWellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
Centre for Biomedical Network Research on Rare Diseases · ESChildren's Hospital at Westmead · AUInstituto de Salud Carlos III · ESBristol Royal Hospital for Children · GBWellcome Centre for Mitochondrial Research · GBBirmingham Women’s and Children’s NHS Foundation Trust · GBConsorci Institut D'Investigacions Biomediques August Pi I Sunyer · ESLeibniz Institute for Analytical Sciences - ISAS · DENewcastle University · GBSt Thomas' Hospital · GBUniversity of Freiburg · DEUniversity of Sydney · AUBroad Institute · USInstitució Catalana de Recerca i Estudis Avançats · ESInstitut d'Investigació Biomédica de Bellvitge · ESInstitute of Clinical Cancer Research · DEOttawa Hospital · CAUniversidad Pablo de Olavide · ESUniversity Medical Center Freiburg · DEUniversity of Cambridge · GB
Funding
Department of Health NIHR-HCS-D12-03-04European Research Council 309548Medical Research Council G1000848Medical Research Council MR/N010035/1Medical Research Council MR/N025431/1Medical Research Council MR/N025431/2Wellcome TrustWellcome Trust 109915/Z/15/ZWellcome Trust 201064/Z/16/ZWellcome Trust 203105/Z/16/Z
Abstract
Transport And Golgi Organization protein 2 (TANGO2) deficiency has recently been identified as a rare metabolic disorder with a distinct clinical and biochemical phenotype of recurrent metabolic crises, hypoglycemia, lactic acidosis, rhabdomyolysis, arrhythmias, and encephalopathy with cognitive decline. We report nine subjects from seven independent families, and we studied muscle histology, respiratory chain enzyme activities in skeletal muscle and proteomic signature of fibroblasts. All nine subjects carried autosomal recessive TANGO2 mutations. Two carried the reported deletion of exons 3 to 9, one homozygous, one heterozygous with a 22q11.21 microdeletion inherited in trans. The other subjects carried three novel homozygous (c.262C>T/p.Arg88*; c.220A>C/p.Thr74Pro; c.380+1G>A), and two further novel heterozygous (c.6_9del/p.Phe6del); c.11-13delTCT/p.Phe5del mutations. Immunoblot analysis detected a significant decrease of TANGO2 protein. Muscle histology showed mild variation of fiber diameter, no ragged-red/cytochrome c oxidase-negative fibers and a defect of multiple respiratory chain enzymes and coenzyme Q
Indexed as
MutationBrain Diseases, MetabolicFatty AcidsFemaleGolgi ApparatusHomozygoteHumansInfantMaleMitochondrial DiseasesMuscle WeaknessOxidative PhosphorylationPhenotypeProteomicsRhabdomyolysisWhole Genome SequencingFatty Acidsfatty acid metabolismmetabolic encephalomyopathymitochondrial dysfunctionproteomic analysisrhabdomyolysisTANGO2
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