Preparation and characterization of a polyclonal antibody against PTEN-Long.
Sign Up to like & getrecommendations! Published in 2021 at "Biotechnology and applied biochemistry"
DOI: 10.1002/bab.2232
Abstract: Phosphatase and Tensin Homolog-long (PTEN-L) is a translational isoform of PTEN, which exists in both intracellular and extracellular locations. Previous studies demonstrated that PTEN-L could inhibit oncogenesis due to its lipid phosphatase activity. However, recent… read more here.
Keywords: pten antibody; mitochondrial diseases; antibody; antibody pten ... See more keywords
A high prevalence of arterial hypertension in patients with mitochondrial diseases
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12195
Abstract: The prevalence of arterial hypertension in mitochondrial diseases remains unknown. Between January 2000 and May 2014, we retrospectively included patients with genetically proven mitochondrial diseases. We recorded clinical, genetic and cardiac exploration data, including the… read more here.
Keywords: arterial hypertension; mitochondrial diseases; prevalence; prevalence arterial ... See more keywords
A new diagnostic indication device of a biomarker growth differentiation factor 15 for mitochondrial diseases: From laboratory to automated inspection
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12317
Abstract: Mitochondrial diseases (MDs) are occasionally difficult to diagnose. Growth differentiation factor 15 (GDF15) has been reported as a biomarker useful for not only diagnosing MDs, but also evaluating disease severity and therapeutic efficacy. To enable… read more here.
Keywords: ltia device; mitochondrial diseases; healthy controls; disease ... See more keywords
[Risk genes in myopathies and mitochondrial diseases].
Sign Up to like & getrecommendations! Published in 2017 at "Der Nervenarzt"
DOI: 10.1007/s00115-017-0350-y
Abstract: Myopathies and mitochondrial diseases pose a major challenge in diagnosis due to the multitude of different entities and - in the case of mitochondriopathies - the possible involvement of multiple organs. Furthermore, there is broad clinical… read more here.
Keywords: myopathies mitochondrial; mitochondrial diseases; disease; genes myopathies ... See more keywords
SARS-CoV-2 infection in patients with primary mitochondrial diseases: Features and outcomes in Italy
Sign Up to like & getrecommendations! Published in 2021 at "Mitochondrion"
DOI: 10.1016/j.mito.2021.03.011
Abstract: Patients with mitochondrial diseases, who usually manifest a multisystem disease, are considered potentially at-risk for a severe coronavirus disease 2019 (COVID-19). The objective of this study is to analyze the clinical features, prognosis and outcomes… read more here.
Keywords: mitochondrial diseases; primary mitochondrial; patients primary; sars cov ... See more keywords
Reduction of Rpd3 suppresses defects in locomotive ability and neuronal morphology induced by the knockdown of Drosophila SLC25A46 via an epigenetic pathway.
Sign Up to like & getrecommendations! Published in 2019 at "Experimental cell research"
DOI: 10.1016/j.yexcr.2019.111673
Abstract: Mitochondrial dysfunction causes various diseases. Mutations in the SLC25A46 gene have been identified in mitochondrial diseases that are sometimes classified as Charcot-Marie-Tooth disease type 2, optic atrophy, and Leigh syndrome. A homolog of SLC25A46 was… read more here.
Keywords: drosophila; mitochondrial diseases; reduction rpd3; slc25a46 ... See more keywords
Mitochondrial diseases caused by dysfunctional mitochondrial protein import.
Sign Up to like & getrecommendations! Published in 2018 at "Biochemical Society transactions"
DOI: 10.1042/bst20180239
Abstract: Mitochondria are essential organelles which perform complex and varied functions within eukaryotic cells. Maintenance of mitochondrial health and functionality is thus a key cellular priority and relies on the organelle's extensive proteome. The mitochondrial proteome… read more here.
Keywords: mitochondrial protein; protein import; mitochondrial diseases; diseases caused ... See more keywords
Incompatibilities between common mtDNA variants in human disease
Sign Up to like & getrecommendations! Published in 2022 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2217452119
Abstract: Mitochondria are the powerhouses of cells and play important roles in development and health. Besides producing adenosine triphosphate (ATP), mitochondria are also responsible for a number of diverse cellular activities, including reactive oxygen species (ROS)… read more here.
Keywords: human disease; common mtdna; variants human; mitochondrial diseases ... See more keywords
Restoration of mitochondrial function through activation of hypomodified tRNAs with pathogenic mutations associated with mitochondrial diseases.
Sign Up to like & getrecommendations! Published in 2023 at "Nucleic acids research"
DOI: 10.1093/nar/gkad139
Abstract: Mutations in mitochondrial (mt-)tRNAs frequently cause mitochondrial dysfunction. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), and myoclonus epilepsy associated with ragged red fibers (MERRF) are major clinical subgroups of mitochondrial diseases caused by… read more here.
Keywords: mitochondrial function; hypomodified trnas; mitochondrial diseases; patient ... See more keywords
Epileptic phenotypes in children with early‐onset mitochondrial diseases
Sign Up to like & getrecommendations! Published in 2019 at "Acta Neurologica Scandinavica"
DOI: 10.1111/ane.13130
Abstract: To determine the prevalence of epilepsy in children with early‐onset mitochondrial diseases (MDs) and to evaluate the epileptic phenotypes and associated features. read more here.
Keywords: early onset; onset mitochondrial; mitochondrial diseases; epileptic phenotypes ... See more keywords
COVID-19–Related Outcomes in Primary Mitochondrial Diseases
Sign Up to like & getrecommendations! Published in 2022 at "Neurology"
DOI: 10.1212/wnl.0000000000200240
Abstract: Background and Objectives To identify factors associated with severe coronavirus disease 2019 (COVID-19), defined by hospitalization status, in patients with primary mitochondrial diseases (PMDs), thereby enabling future risk stratification and informed management decisions. Methods We… read more here.
Keywords: mitochondrial diseases; status; primary mitochondrial; covid ... See more keywords