Articles with "polg" as a keyword



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Identification of the first homozygous POLG mutation causing non-syndromic ovarian dysfunction

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Published in 2018 at "Climacteric"

DOI: 10.1080/13697137.2018.1467891

Abstract: Abstract Objective: To investigate the genetic cause of non-syndromic ovarian dysfunction in a patient from a consanguineous family. Methods: This study examined a patient with irregular menstrual cycles and abnormal oocytes. The patient had undergone… read more here.

Keywords: polg; dysfunction; syndromic ovarian; non syndromic ... See more keywords
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Parkin does not prevent accelerated cardiac aging in mitochondrial DNA mutator mice.

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Published in 2019 at "JCI insight"

DOI: 10.1172/jci.insight.127713

Abstract: The E3 ubiquitin ligase Parkin plays an important role in regulating clearance of dysfunctional or unwanted mitochondria in tissues, including the heart. However, whether Parkin also functions to prevent cardiac aging by maintaining a healthy… read more here.

Keywords: polg; cardiac aging; mice; mitochondrial dna ... See more keywords
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[Az örökletes Parkinson-kór mint a POLG-gén károsodásának új klinikai megjelenési formája].

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Published in 2020 at "Orvosi hetilap"

DOI: 10.1556/650.2020.31724

Abstract: The protein product of the nuclear-encoded POLG gene plays a key role in the maintenance of mitochondrial DNA replication, and its failure causes multi-system diseases with varying severity. The clinical spectrum is extremely wide, and… read more here.

Keywords: polg; parkinson mint; parkinsonism; kletes parkinson ... See more keywords
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PolG Inhibits Gastric Cancer Glycolysis and Viability by Suppressing PKM2 Phosphorylation

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Published in 2021 at "Cancer Management and Research"

DOI: 10.2147/cmar.s292306

Abstract: Purpose Gastric cancer (GC) is the fifth most frequently diagnosed cancer and the third leading cause of cancer-related death. There is a critical need for the development of novel therapies in GC. DNA polymerase gamma… read more here.

Keywords: cancer; gastric cancer; cell; polg ... See more keywords
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Nutritional Interventions for Patients with Mitochondrial POLG-Related Diseases: A Systematic Review on Efficacy and Safety

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Published in 2022 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms231810658

Abstract: Ketogenic diet is recommended as a treatment to reduce seizure frequency in patients with intractable epilepsy. The evidence and safety results are sparse for diet interventions in patients with pathogenic polymerase gamma (POLG) variants and… read more here.

Keywords: seizure frequency; polg; interventions patients; systematic review ... See more keywords