Authors: Elena J Tucker, Megan J Baker, Daniella H Hock, Julia T Warren, Sylvie Jaillard, Katrina M Bell, Rajini Sreenivasan, Shabnam Bakhshalizadeh, Chloe A Hanna, Nikeisha J Caruana, Saskia B Wortmann, Shamima Rahman, Robert D S Pitceathly, Jean Donadieu, Aurelia Alimi, Vincent Launay, Paul Coppo, Sophie Christin-Maitre, Gorjana Robevska, Jocelyn van den Bergen, Brianna L Kline, Katie L Ayers, Phoebe N Stewart, David A Stroud, Diana Stojanovski, Andrew H Sinclair

Contributors: University of Melbourne, Murdoch Children's Research Institute (MCRI), Durham University, Washington University School of Medicine [Saint Louis, MO], Service de Cytogénétique et de Biologie Cellulaire, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Royal Children's Hospital Melbourne, Victoria University [Melbourne], Paracelsus Medizinische Privatuniversität = Paracelsus Medical University (PMU), Amalia Children’s Hospital [Nijmegen, The Netherlands], Great Ormond Street Hospital for Children NHS Foundation Trust [London, UK] (GOSHC), Institute of Neurology - UCL/Queen Square [London, UK] (IN-UCL-QS), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU de Saint-Brieuc, CHU Saint-Antoine [AP-HP], Sorbonne Université (SU), Royal Hobart Hospital

Source: Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, Endocrine Society, 2022, ⟨10.1210/clinem/dgac528⟩

Subject Terms: Biochemistry (medical), Clinical Biochemistry, Endocrinology, Biochemistry, Endocrinology, Diabetes and Metabolism, CLPB, genetics, infertility, mitochondria, neutropenia, premature ovarian insufficiency, primary mitochondrial disease, [SDV]Life Sciences [q-bio]

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https://doi.org/10.1210/clinem/dgac528

Authors: Sining Wang, Akash Jain, Noelle Alexa Novales, Audrey N. Nashner, Fiona Tran, Catherine F. Clarke

Source: Antioxidants; Volume 11; Issue 12; Pages: 2308

Subject Terms: coenzyme Q, ubiquinone, primary CoQ deficiency, mitochondrial disease, single nucleotide variants, Missense3D, COQ genes, Cell Biology, Clinical Biochemistry, Molecular Biology, Biochemistry, Physiology

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Authors: Harrison James Burgin, Jordan James Crameri, Diana Stojanovski, M. Isabel G. Lopez Sanchez, Mark Ziemann, Matthew McKenzie

Source: International Journal of Molecular Sciences; Volume 23; Issue 20; Pages: 12610

Subject Terms: mitochondria, mitochondrial biogenesis, deoxyribonucleosides, ECHS1 deficiency, mitochondrial disease, Inorganic Chemistry, Organic Chemistry, Physical and Theoretical Chemistry, Computer Science Applications, Spectroscopy, Molecular Biology, General Medicine, Catalysis

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Authors: Gabriel E. Valdebenito, Anitta R. Chacko, Chih-Yao Chung, Michael R. Duchen

Source: Trends in Cell Biology. 32:391-405

Subject Terms: Cell Biology, Heteroplasmy, Cell signaling, Mitochondrial disease, medicine.disease, medicine, Mitochondrial DNA, Genetics, Mitochondrion, Gene, Biology, Genome, Oxidative phosphorylation

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https://doi.org/10.1016/j.tcb.2021.10.005

Authors: Rajesh Kumar, Seetha Harila, Bijo Mathew, Della Grace Thomas Parambi, S.K. Kanthlal, Athanasios Alexiou, Gaber El-Saber Batiha, Atiar Rahman

Source: Current Neuropharmacology. 20:824-835

Subject Terms: Pharmacology (medical), Psychiatry and Mental health, Neurology (clinical), Neurology, Pharmacology, General Medicine, Parkin, PINK1, Neurodegeneration, medicine.disease, medicine, Mutation, medicine.disease_cause, SOD1, Genetics, Mitochondrial disease, Gene mutation, Mitochondrial DNA, Biology

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https://doi.org/10.2174/1570159x19666210908163839

Authors: Nina Bonekamp, Inge Kühl, Maria Miranda

Contributors: Max Planck Institute for Biology of Ageing, Universität Heidelberg [Heidelberg], Institut de Biologie Intégrative de la Cellule (I2BC), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)

Source: Biological Chemistry
Biological Chemistry, 2022, 403 (8-9), pp.779-805. ⟨10.1515/hsz-2021-0416⟩

Subject Terms: Clinical Biochemistry, Molecular Biology, Biochemistry, inhibitor of mitochondrial transcription, mitochondria, mitochondrial disease, mitochondrial gene expression, mitochondrial transcription, PPR proteins, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN]

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https://doi.org/10.1515/hsz-2021-0416

Authors: Hiroki Nagase, Takayoshi Watanabe, Seigi Yamamoto, Nobuko Koshikawa, Keizo Takenaga, Jason Lin

Source: Cancer Science

Subject Terms: Review Article, Review Articles, age‐related disorder, anticancer therapy, apoptosis, autophagy, Bcl family, exocytosis, mitochondria, mitochondrial disease, mitochondrial quality control, mitophagy, mtDNA, mutation, polymorphism, pyrrole‐imidazole polyamide, reactive oxygen species, senescence, triphenylphosphonium, Cancer Research, Oncology, General Medicine, Mitochondrial disease, medicine.disease, medicine, Mutation, medicine.disease_cause, Cell biology, Biology, Cancer cell, Mitochondrion, Mitophagy, Cancer, Mitochondrial DNA, Metastasis

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http://europepmc.org/articles/PMC8645765

Authors: Jun Nakata, Toshiki Arai, Yuhi Fujimoto, Reiko Shiomura, Wataru Shimizu, Makoto Watanabe, Takeshi Yamamoto, Noriyuki Kobayashi, Junya Matsuda, Masaki Wakita, Shuhei Tara, Nobuaki Ito

Source: Internal Medicine. 61:489-493

Subject Terms: General Medicine, Internal Medicine, Abdominal compartment syndrome, medicine.disease, medicine, Cardiology, medicine.medical_specialty, business.industry, business, Complication, Shock (circulatory), medicine.symptom, Heart failure, Cardiogenic shock, Hemodynamics, Internal medicine, Circulatory system, Mitochondrial disease

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https://doi.org/10.2169/internalmedicine.7729-21

Authors: María Paz Guerrero-Molina, Montserrat Morales-Conejo, Aitor Delmiro, María Morán, Cristina Domínguez-González, Elena Arranz-Canales, Ana Ramos-González, Joaquín Arenas, Miguel A. Martín, Jesús González de la Aleja

Source: Journal of Neurology

Subject Terms: Original Communication, Mitochondrial disease, MELAS, Glutamate, Glutamine, Branched-chain amino acids, Neurology (clinical), Neurology

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http://europepmc.org/articles/PMC8794606

Authors: Helene Barone, Jan Haavik, Selina Cannon Homaei, Rune Kleppe, Nibal Betari, Andreas Reif

Source: Neuroscience and Biobehavioral Reviews

Subject Terms: Behavioral Neuroscience, Cognitive Neuroscience, Neuropsychology and Physiological Psychology, Ichthyosis, medicine.disease, medicine, Mitochondrial disease, Maple syrup urine disease, business.industry, business, Phenylketonuria (PKU), Succinic semialdehyde dehydrogenase deficiency, Monoamine neurotransmitter, Neuroscience, Alkaptonuria, Neurochemical

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https://doi.org/10.1016/j.neubiorev.2021.11.012

Authors: H. J. M. Smeets, A. Vallbona-Garcia, I.F.M. de Coo, F.H.J. van Tienen, Theo G. M. F. Gorgels, Carroll A.B. Webers, W. H. G. Hubens

Source: Mitochondrion. 62:187-204

Subject Terms: Cell Biology, Molecular Biology, Molecular Medicine, Blood biomarkers, Disease, Mitochondrion, Biochemical markers, Biomarker (medicine), Biomarker panel, Pathophysiology, Bioinformatics, Medicine, business.industry, business, Mitochondrial disease, medicine.disease, Biomarkers, Blood, COMPLEX-I, DIFFERENTIATION FACTOR 15, DNA COPY NUMBER, HEREDITARY OPTIC NEUROPATHY, LACTIC-ACIDOSIS, Mitochondrial disorder, Mitochondrial dysfunction, Multifactorial diseases, NITRIC-OXIDE PRODUCTION, OXIDATIVE STRESS, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, SERUM GDF15 LEVELS, STROKE-LIKE EPISODES, RESPIRATORY-CHAIN DISEASE, NONALCOHOLIC FATTY LIVER, GROWTH-FACTOR 21

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https://doi.org/10.1016/j.mito.2021.10.008

Authors: Mayumi Takahashi-Kobayashi, Kazuto Nakada, Tatsuya Shimizu, Kunihiro Yamagata, Ryota Ishii, Mikiko Kageyama, Joichi Usui, Shuzo Kaneko, Masahiro Hagiwara, Jun-Ichi Hayashi

Source: Experimental Animals. 71:14-21

Subject Terms: General Veterinary, General Biochemistry, Genetics and Molecular Biology, Animal Science and Zoology, General Medicine, Kidney, medicine.anatomical_structure, medicine, Mitochondrial disease, medicine.disease, Proteinuria, medicine.symptom, Focal segmental glomerulosclerosis, Pathology, medicine.medical_specialty, Mitochondrial DNA, Immunohistochemistry, Podocyte, business.industry, business, Pathogenesis, urologic and male genital diseases, urogenital system, female genital diseases and pregnancy complications

Access URL: https://explore.openaire.eu/search/publication?articleId=doi_________::065a56abba3ed49905e49be940d82370
https://doi.org/10.1538/expanim.21-0054

Authors: Shiro Ozasa, Keiko Nomura, Kei Murayama, Tomoko Tsuruoka, Yasutoshi Koga, Tomoko Kashiki, Jun Kido, Atsuko Imai-Okazaki, Kimitoshi Nakamura, Ken Momosaki, Shouichirou Kusunoki

Source: Brain and Development. 44:56-62

Subject Terms: Neurology (clinical), Developmental Neuroscience, General Medicine, Pediatrics, Perinatology and Child Health, Encephalopathy, medicine.disease, medicine, Status epilepticus, medicine.symptom, Mitochondrial disease, Adenine Nucleotide Translocator 1, Mitochondrial DNA depletion syndrome, Cardiomyopathy, Mitochondrial DNA, business.industry, business, Pathology, medicine.medical_specialty, Hypotonia

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https://doi.org/10.1016/j.braindev.2021.08.005

Authors: Kathryn C. Chatfield, Lisa M. Wolfe, Genevieve C. Sparagna, Adam J. Chicco, Luke A. Whitcomb, Asma K. Omar, Shelley D. Miyamoto, Kalyn S. Specht

Source: Journal of Inherited Metabolic Disease. 45:111-124

Subject Terms: Genetics (clinical), Genetics, Idiopathic dilated cardiomyopathy, Cardiolipin, chemistry.chemical_compound, chemistry, Beta oxidation, Barth syndrome, medicine.disease, medicine, Cardiomyopathy, Mitochondrial disease, Internal medicine, medicine.medical_specialty, Respiratory chain, Endocrinology, Tafazzin, biology.protein, biology

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https://doi.org/10.1002/jimd.12459

Authors: Michal Minczuk, Pedro Silva-Pinheiro

Source: Nature Reviews Genetics. 23:199-214

Subject Terms: Genetics (clinical), Genetics, Molecular Biology, Mitochondrial DNA, Nuclear DNA, Mitochondrion, Nuclear gene, Genome, Mitochondrial disease, medicine.disease, medicine, Genome editing, Biology

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https://doi.org/10.1038/s41576-021-00432-x

Authors: Sergio A Gomes

Source: Companion Animal. 26:257-264

Subject Terms: General Computer Science, Cell biology, Metabolic disorder, medicine.disease, medicine, Organelle, Mitochondrion, Mitochondrial disease, Respiratory chain, Cytoplasm, Organic aciduria, Mitochondrial DNA, Biology

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https://doi.org/10.12968/coan.2021.0018

Authors: L Magy, K.H. Ly, R Mas, F. Archambeaud, P Jésus, Guillaume Gondran

Source: La Revue de Médecine Interne. 42:887-890

Subject Terms: Gastroenterology, Internal Medicine, Muscular weakness, Endocrinology, medicine.medical_specialty, medicine, Weight loss, medicine.symptom, Internal medicine, business.industry, business, Thymidine phosphorylase, Mitochondrial disease, medicine.disease

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https://doi.org/10.1016/j.revmed.2021.10.007

Authors: Qing Luo, Jiahong Zhou, Jinbo Liu, Zhiyu Lv, Xing Shen, Yang Chen, Xia Wen

Source: Clinica Chimica Acta. 523:172-177

Subject Terms: Biochemistry (medical), Clinical Biochemistry, Biochemistry, General Medicine, Oxidative phosphorylation, Frameshift mutation, Gene, Genetics, Compound heterozygosity, Sanger sequencing, symbols.namesake, symbols, Mitochondrial disease, medicine.disease, medicine, Point mutation, Mutation, medicine.disease_cause, Biology

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https://doi.org/10.1016/j.cca.2021.09.014

Authors: Bigna K. Bölsterli, Eugen Boltshauser, Luigi Palmieri, Johannes Spenger, Michaela Brunner-Krainz, Felix Distelmaier, Peter Freisinger, Tobias Geis, Andrea L. Gropman, Johannes Häberle, Julia Hentschel, Bruno Jeandidier, Daniela Karall, Boris Keren, Annick Klabunde-Cherwon, Vassiliki Konstantopoulou, Raimund Kottke, Francesco M. Lasorsa, Christine Makowski, Cyril Mignot, Ruth O’Gorman Tuura, Vito Porcelli, René Santer, Kuntal Sen, Katja Steinbrücker, Steffen Syrbe, Matias Wagner, Andreas Ziegler, Thomas Zöggeler, Johannes A. Mayr, Holger Prokisch, Saskia B. Wortmann

Source: Nutrients; Volume 14; Issue 17; Pages: 3605

Subject Terms: mitochondrial disease, epilepsy, hepatopathy, aspartate glutamate carrier 1 deficiency, AGC1, citrin deficiency, Citrullinemia, treatment, modified Atkins diet, serine, Food Science, Nutrition and Dietetics

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Subject Terms: Peripheral neuropathy, Whole-exome sequencing, Nuclear genes, Mitochondrial disease

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https://ir.kagoshima-u.ac.jp/?action=repository_action_common_download&item_id=16146&item_no=1&attribute_id=16&file_no=4