Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes with an MT-TL1 m.3243A>G point mutation: Neuroradiological features and their implications for underlying pathogenesis [PDF]
, 2023 Helin Zheng +8 more
openalex +1 more source
Genetic defects in patients with mitochondrial encephalomyopathies [PDF]
, 2005 Dit proefschrift is een bijdrage aan het snel groeiende kennisgebied gewijd aan de verbetering van de diagnostiek op DNA-niveau bij patiënten met mitochondriële encephalomyopathieën en is onder andere geïnspireerd door de hypothese van de communicatie ...
Coo, I.F.M. (René) de
core
Mitochondrial Transplantation as a Therapeutic Strategy for Inherited Mitochondrial Diseases
Advanced Science, Volume 13, Issue 11, 23 February 2026.Mitochondrial transplantation (MTx) offers a promising therapeutic avenue for mitochondrial diseases. This review comprehensively evaluates MTx, differentiating its feasibility for mtDNA‐ and nDNA‐based disorders. It examines its potential for genetic correction, alongside inherent limitations, technical challenges, and crucial ethical considerations ...
Parmeshar Singh +17 more
wiley +1 more source
Nitric Oxide Synthesis Is Increased in Cybrid Cells with m.3243A > G Mutation [PDF]
, 2012 Nitric oxide (NO) is a free radical and a signaling molecule in several pathways, produced by nitric oxide synthase (NOS) from the conversion of L-arginine to citrulline.
Gamba, Juliana +5 more
core +3 more sources
Clinical Case Reports, Volume 14, Issue 2, February 2026.ABSTRACT SMART syndrome is a rare, delayed complication of cranial irradiation that can mimic stroke, tumor recurrence, or autoimmune encephalitis. Early recognition based on clinical‐radiologic features is critical to avoid misdiagnosis and unnecessary interventions since conservative management often leads to complete recovery.
Shiv Jha +4 more
wiley +1 more source
New variant in the FBXL4 gene – leading to mitochondrial DNA depletion syndrome
Journal of Pediatric and Neonatal Individualized MedicineDefects in the mitochondrial DNA (mtDNA) cause mtDNA depletion syndrome (MTDPS), a subclass of mitochondrial disorders that are genetically and phenotypically heterogeneous.
Carolina Ferreira Gonçalves +11 more
doaj +1 more source
Underlying role of mitochondrial mutagenesis in the pathogenesis of a disease and current approaches for translational research [PDF]
, 2016 Mitochondrial diseases have been extensively investigated over the last three decades but many questions regarding their underlying aetiologies remain unanswered.
Atchison +17 more
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Development of Pharmacological Strategies for Mitochondrial Disorders. [PDF]
, 2013 Mitochondrial diseases are an unusually genetically and phenotypically heterogeneous group of disorders, which are extremely challenging to treat. Currently, apart from supportive therapy, there are no effective treatments for the vast majority of ...
Heales, SJ, Kanabus, M, Rahman, S
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Observation on the ultrastructure morphology of HeLa cells treated with ethanol: Statistical analysis. [PDF]
, 2016 It is estimated that 5.9% of all human deaths are attributable to alcohol consumption and that the harmful use of ethanol ranks among the top five risk factors for causing disease, disability, and death worldwide. Ethanol is known to disrupt phospholipid
Al-Bagdadi, Fakhri +6 more
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Oxidative Stress: Mechanistic Insights into Inherited Mitochondrial Disorders and Parkinson's Disease [PDF]
, 2017 Oxidative stress arises when cellular antioxidant defences become overwhelmed by a surplus generation of reactive oxygen species (ROS). Once this occurs, many cellular biomolecules such as DNA, lipids, and proteins become susceptible to free radical ...
Al Shahrani, M +3 more
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