" Retrograde response to mitochondrial dysfunctions associated to LOF variations in FLAD1 exon 2: unraveling the importance of RFVT2 M Tolomeo, G Chimienti, M Lanza, R Barbaro, A Nisco… - Free Radical Research, 2022 … A proposal is also ma…

" [HTML] The role of the tryptophan-NAD+ pathway in a mouse model of severe malnutrition induced liver dysfunction G Hu, C Ling, L Chi, MK Thind, S Furse, A Koulman… - Nature Communications, 2022 … mitochondrial characteristics in our mode…

" [PDF] Exercise‐induced modulation of neuroinflammation in aging Z Barad, J Augusto, ÁM Kelly - The Journal of Physiology, 2022 Optimal performance of the central nervous system (CNS) depends on dynamic, multi‐directional communication be…

" [PDF] Sodium-glucose Cotransporter 2 Inhibitors and Nonalcoholic Fatty Liver HM Salah, M Fudim … ; a growing body of evidence suggests that SGLT2 inhibitors can improve mitochondrial dysfunction, optimize mitochondrial energy utilization…

" [HTML] Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines E Mavraki, R Labrum, K Sergeant, CL Alston… - European Journal of Human …, 2022 … Primary mitochondrial disease describes a diverse group of ne…

" In Utero Exposure to Air Pollutants and Mitochondrial Heteroplasmy in Neonates C Cosemans, C Wang, DS Martens, BG Janssen… - Environmental Science & …, 2022 … -blood mitochondrial single-nucleotide polymorphisms were identified by whole …

" The Role of Nuclear-Encoded Mitochondrial tRNA Charging Enzymes in Human Inherited Disease C Del Greco, A Antonellis - Genes, 2022 … - and nuclear-encoded genes, mitochondrial disease can be caused by mutations in the … are some cases of…

" [PDF] Autonomic instability, arrhythmia and visual impairment in a new presentation of MTFMT‐related mitochondrial disease C Howard, A Dev‐Borman, J Stokes, D O'Rourke… - JIMD Reports … MTFMT-related mitochondrial disease presents with m…

" [HTML] Changing faces of mitochondrial disease: autosomal recessive POLG disease mimicking myasthenia gravis and progressive supranuclear palsy M Elwan, AM Schaefer, K Craig, S Hopton, G Falkous… - BMJ Neurology Open, 2022 … A diagnostic…

" [PDF] Cognitive functioning and mental health in mitochondrial disease: A systematic scoping review KFE van de Loo, IL Klein, JAM Smeitink, MCH Janssen… - … adults with a Mitochondrial …, 2022 … The most common MD diagnoses in patients w…

" [PDF] PLA2G6-Associated Neurodegeneration: A Rare Case Report of Neurodegeneration with Brain Iron Accumulation in Children N Widianti, MH Hanindita, NA Widjaja, R Irawan - Pakistan Journal of Medical …, 2023 … , and seizures strongly su…

" [HTML] Psychiatric manifestations of inborn errors of metabolism: A systematic review N van de Burgt, W van Doesum, M Grevink, S van Niele… - … & Biobehavioral Reviews, 2022 … mitochondrial DNA (mtDNA). Most mutations are associated with…

" Primary Mitochondrial Disorders in the Neonate RT Starosta, M Shinawi - NeoReviews, 2022 … a malfunction of 1 or more ETC complexes or other disturbances of mitochondrial function and/or structure and associated with high rates of … clin…

" Xenotopic expression of alternative oxidase (AOX) to study mechanisms of mitochondrial disease C Viscomi, AL Moore, M Zeviani, M Szibor - Biochimica et Biophysica Acta (BBA) …, 2022 … In several landmark-studies, mitochondrial disease mo…

" Drug-induced mitochondrial impairment: Mechanisms and testing systems R Heidari, MM Ommati, H Niknahad - Mitochondrial Intoxication, 2023 … of mitochondrial permeabilization, enhancing the dissipation of mitochondrial membrane potential,…

" Mechanisms of bisphenol A toxicity in mitochondria MA Dehghani, A Sabahi, AR Vanani, N Amirrajab… - Mitochondrial Intoxication, 2023 … mitochondrial dysfunction and apoptosis. BPA decreases the expression of genes involved in mitochondri…

" [HTML] A multi-omics longitudinal aging dataset in primary human fibroblasts with mitochondrial perturbations G Sturm, AS Monzel, KR Karan, J Michelson, SA Ware… - Scientific Data, 2022 … mitochondrial disease (n = 3). The dataset includ…

" Xenotopic expression of alternative oxidase (AOX) to study mechanisms of mitochondrial disease C Viscomi, AL Moore, M Zeviani, M Szibor - Biochimica et Biophysica Acta (BBA) …, 2022 … of mitochondrial genetics it is not surprising that n…

" Antidepressants, mood-stabilizing drugs, and mitochondrial functions: For better or for worse G Preston, DES El Sabbagh, TL Emmerzaal, E Morava… - Mitochondrial Intoxication, 2023 … primary mitochondrial … mitochondrial dysfunction and o…

" Mitochondrial oxygen toxicity R Alva, M Abbas, ORM Bagshaw, C Moffatt… - Mitochondrial Intoxication, 2023 … Mitochondria are both sources and targets of these ROS. In this chapter, we describe how hyperoxia-mediated oxidative stress impa…

" Mitochondrial disorders: Treatment E O'Ferrall, S Hahn … or with central nervous system disease, the term mitochondrial myopathy is used. Although mitochondria are known to play a role in diverse … , this review will focus on the treatme…

" バイオマーカー GDF15 の産業化により大きく変わるミトコンドリア病の診断アルゴリズム 古賀靖敏 - 脳と発達, 2022 … from MELAS. To enable the measurement of serum GDF15 concentrations at medical institutions, we developed a new latex-enhanced …

" [PDF] Mitochondrial biology and dysfunction in secondary mitochondrial disease MJ Baker, JJ Crameri, DR Thorburn, AE Frazier… - Open Biology, 2022 … to mitochondrial disease onset [13–16]. Mitochondrial diseases can be categorized into t…

" Mitochondrial DNA mutation affects the pluripotency of embryonic stem cells with metabolism modulation J Qi, Q Long, Y Yuan, Y Zhou, J Zhang, Z Ruan, L Yang… - Genome Instability & …, 2022 … Mitochondria are the only organelles other tha…

" [PDF] Anterior canal-sparing bilateral vestibulopathy in MELAS syndrome JM Kim, TS Nam, SH Lee - Annals of Clinical Neurophysiology, 2022 … Vestibular dysfunction has rarely been reported in MELAS syndrome. A 40-year-old male with … and …

" [PDF] Fluorescence lifetime imaging microscopy to study protein aggregation in the context of neurodegenerative diseases CW Chung - 2022 … elongation of Aβ42, which overrides any contribution from mitochondrial dysfunction. For a better …

" [HTML] Lactic Acidosis Related to Pharmacotherapy and Human Diseases C Zanza, V Facelli, T Romenskaya, M Bottinelli… - Pharmaceuticals, 2022 … to the mitochondrial matrix. These are genetical diseases and the genes that are mutated are m…

" [HTML] Diagnoses for Charles Darwin's Illness: A Wealth of Inaccurate Differential Diagnoses J Hayman, J Finsterer - Cureus, 2022 … The diagnosis that is favored here, that of a mitochondrial disorder due to a maternally inherited pathol…

" [PDF] Adult-onset Leigh syndrome due to m. 9176T> C mutation with cortical involvement H Lee, M Lee, JH Lee - Ann Clin Neurophysiol, 2022 … helpful in various mitochondrial diseases.We conducted thorough testing to detect mutations of th…

" Reversible Dementia With Bilateral White Matter Changes Caused by Dural Arteriovenous Fistula: Case Report and Review of the Literature Y Zeng, X Li, W Chen, J Du, T Tao - The Neurologist … mitochondrial disease can present with cognitiv…