[HTML][HTML] Pathogenic mitochondrial DNA 3243A> G mutation: from genetics to phenotype
D Li, C Liang, T Zhang, JL Marley, W Zou, M Lian… - Frontiers in …, 2022 - frontiersin.org
The mitochondrial DNA (mtDNA) m. 3243A> G mutation is one of the most common
pathogenic mtDNA variants, showing complex genetics, pathogenic molecular mechanisms …
pathogenic mtDNA variants, showing complex genetics, pathogenic molecular mechanisms …
[HTML][HTML] The mitochondrial m. 3243A> G mutation on the dish, lessons from in vitro models
S Ryytty, RH Hämäläinen - International Journal of Molecular Sciences, 2023 - mdpi.com
The m. 3243A> G mutation in the tRNA Leu (UUR) gene (MT-TL1) is one of the most
common pathogenic point mutations in human mtDNA. Patient symptoms vary widely and …
common pathogenic point mutations in human mtDNA. Patient symptoms vary widely and …
[HTML][HTML] Varied responses to a high m. 3243A> G mutation load and respiratory chain dysfunction in patient-derived cardiomyocytes
S Ryytty, SR Modi, N Naumenko, A Shakirzyanova… - Cells, 2022 - mdpi.com
The m. 3243A> G mutation in mitochondrial tRNA-Leu (UUR) is one of the most common
pathogenic mitochondrial DNA mutations in humans. The clinical manifestations are highly …
pathogenic mitochondrial DNA mutations in humans. The clinical manifestations are highly …
[HTML][HTML] Association of Mitochondrial Variants with the Joint Occurrence of Polycystic Ovary Syndrome and Hashimoto's Thyroiditis
N Zeber-Lubecka, M Kulecka, K Suchta, M Dąbrowska… - Antioxidants, 2023 - mdpi.com
Background. The prevalence of Hashimoto's thyroiditis (HT) among women with polycystic
ovary syndrome (PCOS) is higher than in the general female population, but the factors …
ovary syndrome (PCOS) is higher than in the general female population, but the factors …
[HTML][HTML] The genetic landscape of mitochondrial diseases in the next-generation sequencing era: a Portuguese cohort study
C Nogueira, C Pereira, L Silva, M Laranjeira… - Frontiers in Cell and …, 2024 - frontiersin.org
Introduction: Rare disorders that are genetically and clinically heterogeneous, such as
mitochondrial diseases (MDs), have a challenging diagnosis. Nuclear genes codify most …
mitochondrial diseases (MDs), have a challenging diagnosis. Nuclear genes codify most …
[HTML][HTML] Chronological change of left ventricular global longitudinal strain in patients with maternally inherited diabetes and deafness: A case series
JS Seo - Medicine, 2024 - journals.lww.com
Interventions: Because MIDD does not have a specific treatment, patient 1 took
ubidecarenone (coenzyme Q10), acetylcarnitine, and multivitamin along with the treatment …
ubidecarenone (coenzyme Q10), acetylcarnitine, and multivitamin along with the treatment …
Late-onset mitochondrial encephalopathy with lactic acidosis and stroke-like episodes and the role of serial imaging
R Ambrogetti, E Kavanagh… - BMJ Case Reports CP, 2024 - casereports.bmj.com
Mitochondria are essential for human metabolic function. Over 350 genetic mutations are
associated with mitochondrial diseases, which are inherited in a matrilineal fashion. In …
associated with mitochondrial diseases, which are inherited in a matrilineal fashion. In …
Mitochondrial coding and control region variants are associated with Type-2 Diabetes in Pakistani population
S Farooq, SFH Naqvi, S Muhammad… - 2024 - researchsquare.com
Background Sequence changes of human mitochondrial DNA (mtDNA) are involved in
many human diseases. Mitochondrial DNA variants have been associated with development …
many human diseases. Mitochondrial DNA variants have been associated with development …
[CITATION][C] Retinopathy in Mitochondrial Disorders
J Finsterer - Himalayan Journal of Applied Medical Sciences and …, 2021
[CITATION][C] Implications of mitochondrial DNA alterations in brain disorders
BK Bulduk - Universitat Rovira i Virgili