Mitochondrial protein dysfunction in pathogenesis of neurological diseases
L Wang, Z Yang, X He, S Pu, C Yang, Q Wu… - Frontiers in Molecular …, 2022 - frontiersin.org
Mitochondria are essential organelles for neuronal function and cell survival. Besides the
well-known bioenergetics, additional mitochondrial roles in calcium signaling, lipid …
well-known bioenergetics, additional mitochondrial roles in calcium signaling, lipid …
Polymerases and DNA repair in neurons: implications in neuronal survival and neurodegenerative diseases
X Li, G Cao, X Liu, TS Tang, C Guo… - Frontiers in Cellular …, 2022 - frontiersin.org
Most of the neurodegenerative diseases and aging are associated with reactive oxygen
species (ROS) or other intracellular damaging agents that challenge the genome integrity of …
species (ROS) or other intracellular damaging agents that challenge the genome integrity of …
POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature
M Borsche, M Dulovic-Mahlow, H Baumann, S Tunc… - The Cerebellum, 2024 - Springer
Different pathogenic variants in the DNA polymerase-gamma2 (POLG2) gene cause a rare,
clinically heterogeneous mitochondrial disease. We detected a novel POLG2 variant (c …
clinically heterogeneous mitochondrial disease. We detected a novel POLG2 variant (c …
Mechanisms and pathologies of human mitochondrial DNA replication and deletion formation
TM Bernardino Gomes, AE Vincent… - Biochemical …, 2024 - portlandpress.com
Human mitochondria possess a multi-copy circular genome, mitochondrial DNA (mtDNA),
that is essential for cellular energy metabolism. The number of copies of mtDNA per cell, and …
that is essential for cellular energy metabolism. The number of copies of mtDNA per cell, and …
Genetic insights into the complexity of premature ovarian insufficiency
L Nie, X Wang, S Wang, Z Hong, M Wang - Reproductive Biology and …, 2024 - Springer
Abstract Premature Ovarian Insufficiency (POI) is a highly heterogeneous condition
characterized by ovarian dysfunction in women occurring before the age of 40, representing …
characterized by ovarian dysfunction in women occurring before the age of 40, representing …
In vitro reconstitution reveals a key role of human mitochondrial EXOG in RNA primer processing
A Karlowicz, AB Dubiel, J Czerwinska… - Nucleic acids …, 2022 - academic.oup.com
The removal of RNA primers is essential for mitochondrial DNA (mtDNA) replication. Several
nucleases have been implicated in RNA primer removal in human mitochondria, however …
nucleases have been implicated in RNA primer removal in human mitochondria, however …
[引用][C] Multisystem presentation of a homozygous POLG2 variant.
J Finsterer - European Journal of Medical Genetics, 2020 - europepmc.org
A comment on this article appears in" Answer to Finsterer about" Multisystem presentation of
a homozygous POLG2 variant"." Eur J Med Genet. 2020 May; 63 (5): 103900. This is a …
a homozygous POLG2 variant"." Eur J Med Genet. 2020 May; 63 (5): 103900. This is a …