Mitochondrial-shaping proteins in cardiac health and disease–the long and the short of it!
SB Ong, SB Kalkhoran, S Hernández-Reséndiz… - … drugs and therapy, 2017 - Springer
Mitochondrial health is critically dependent on the ability of mitochondria to undergo
changes in mitochondrial morphology, a process which is regulated by mitochondrial …
changes in mitochondrial morphology, a process which is regulated by mitochondrial …
The functional genomics laboratory: functional validation of genetic variants
RJ Rodenburg - Journal of inherited metabolic disease, 2018 - Springer
Currently, one of the main challenges in human molecular genetics is the interpretation of
rare genetic variants of unknown clinical significance. A conclusive diagnosis is of …
rare genetic variants of unknown clinical significance. A conclusive diagnosis is of …
OXPHOS remodeling in high-grade prostate cancer involves mtDNA mutations and increased succinate oxidation
B Schöpf, H Weissensteiner, G Schäfer… - Nature …, 2020 - nature.com
Rewiring of energy metabolism and adaptation of mitochondria are considered to impact on
prostate cancer development and progression. Here, we report on mitochondrial respiration …
prostate cancer development and progression. Here, we report on mitochondrial respiration …
Mitochondrial fission protein Drp1 inhibition promotes cardiac mesodermal differentiation of human pluripotent stem cells
Human induced pluripotent stem cells (iPSCs) are a valuable tool for studying the cardiac
developmental process in vitro, and cardiomyocytes derived from iPSCs are a putative cell …
developmental process in vitro, and cardiomyocytes derived from iPSCs are a putative cell …
[HTML][HTML] Emerging model systems and treatment approaches for Leber's hereditary optic neuropathy: challenges and opportunities
Leber's hereditary optic neuropathy (LHON) is a mitochondrial disease mainly affecting
retinal ganglion cells (RGCs). The pathogenesis of LHON remains ill-characterized due to a …
retinal ganglion cells (RGCs). The pathogenesis of LHON remains ill-characterized due to a …
Generation of a transplantable population of human iPSC-derived retinal ganglion cells
O Rabesandratana, A Chaffiol, A Mialot… - Frontiers in Cell and …, 2020 - frontiersin.org
Optic neuropathies are a major cause of visual impairment due to retinal ganglion cell
(RGC) degeneration. Human induced-pluripotent stem cells (iPSCs) represent a powerful …
(RGC) degeneration. Human induced-pluripotent stem cells (iPSCs) represent a powerful …
[HTML][HTML] Mitochondrial DNA dynamics in reprogramming to pluripotency
Mammalian cells, with the exception of erythrocytes, harbor mitochondria, which are
organelles that provide energy, intermediate metabolites, and additional activities to sustain …
organelles that provide energy, intermediate metabolites, and additional activities to sustain …
Pluripotent stem cell heterogeneity
Pluripotent stem cells (PSCs), including embryonic stem cells and induced pluripotent stem
cells, show heterogeneity with respect to their pluripotency, self-renewal ability, and other …
cells, show heterogeneity with respect to their pluripotency, self-renewal ability, and other …
[HTML][HTML] Mitochondrial replacement in an iPSC model of Leber's hereditary optic neuropathy
Cybrid technology was used to replace Leber hereditary optic neuropathy (LHON) causing
mitochondrial DNA (mtDNA) mutations from patient-specific fibroblasts with wildtype mtDNA …
mitochondrial DNA (mtDNA) mutations from patient-specific fibroblasts with wildtype mtDNA …
Modelling mitochondrial disease in human pluripotent stem cells: what have we learned?
CL McKnight, YC Low, DA Elliott, DR Thorburn… - International Journal of …, 2021 - mdpi.com
Mitochondrial diseases disrupt cellular energy production and are among the most complex
group of inherited genetic disorders. Affecting approximately 1 in 5000 live births, they are …
group of inherited genetic disorders. Affecting approximately 1 in 5000 live births, they are …