" A bacterial cytidine deaminase toxin enables CRISPR-free mitochondrial base editing BY Mok, MH de Moraes, J Zeng, DE Bosch, AV Kotrys… - Nature, 2020 - nature.com … double-strand breaks, a capability that has the potential to model mitoc…
" mt DNA heteroplasmy level and copy number indicate disease burden in m. 3243A> G mitochondrial disease JP Grady, SJ Pickett, YS Ng, CL Alston… - EMBO molecular …, 2018 - embopress.org … We thank the patients who participated in this stud…
" Drug development for the therapy of mitochondrial diseases V Weissig - Trends in molecular medicine, 2020 - Elsevier … TAK-831, an inhibitor of D-amino acid oxidase, is being tested as an intervention forFriedreich’s ataxia, a mitochondr…
" Emerging therapies for mitochondrial diseases M Hirano, V Emmanuele, CM Quinzii - Essays in biochemistry, 2018 - portlandpress.com … CoQ10 Children with mitochondrial diseases with mtDNA mutations or specific OXPHOScomplexes defects Phas…
" Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivo PA Gammage, C Viscomi, ML Simard, ASH Costa… - Nature medicine, 2018 - nature.com … mitochondrial disease, bearing the point mutation m.5024C>T in … disease-rele…
" Mitochondrial diseases: the contribution of organelle stress responses to pathology A Suomalainen, BJ Battersby - Nature reviews Molecular cell biology, 2018 - nature.com … mitochondrial DNA (mtDNA) maintenance and mitochondrial translat…
" Mitochondrial medicine in the omics era J Rahman, S Rahman - The Lancet, 2018 - Elsevier … , and mitochondrial dynamics (table 1). Conversely, dozens of mitochondrial disease mutations… describing mitochondrial disease mutations (collate…
" Advancing genomic approaches to the molecular diagnosis of mitochondrial disease SL Stenton, H Prokisch - Essays in Biochemistry, 2018 - portlandpress.com … clinical presentation, are uncommon in mitochondrial disease making the selectio…
" [HTML] Advances in mt-tRNA mutation-caused mitochondrial disease modeling: patients' brain in a dish S Povea-Cabello, M Villanueva-Paz… - Frontiers in …, 2021 - frontiersin.org … , MELAS (mitochondrial encephalomyopathy, lactic acidosis,…
" Mutations in FASTKD2 are associated with mitochondrial disease with multi‐OXPHOS deficiency X Wei, M Du, D Li, S Wen, J Xie, Y Li, A Chen… - … Mutation, 2020 - Wiley Online Library … Alternatively, a patient with FASTKD2 mutation can sho…
" [HTML] Mitochondrial diseases: hope for the future OM Russell, GS Gorman, RN Lightowlers, DM Turnbull - Cell, 2020 - Elsevier … Several studies have shown that nuclear genetic defects are the main cause of childhoodmitochondrial disease …
" [HTML] Genetics of mitochondrial diseases: Identifying mutations to help diagnosis SL Stenton, H Prokisch - EBioMedicine, 2020 - Elsevier … The vast phenotypic overlap with other disease entities … mitochondrial disease patients,but acce…
" 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…
