Single-cell multi-omics of mitochondrial DNA disorders reveals dynamics of purifying selection across human immune cells
CA Lareau, SM Dubois, FA Buquicchio, YH Hsieh… - Nature …, 2023 - nature.com
Pathogenic mutations in mitochondrial DNA (mtDNA) compromise cellular metabolism,
contributing to cellular heterogeneity and disease. Diverse mutations are associated with …
contributing to cellular heterogeneity and disease. Diverse mutations are associated with …
Induced pluripotent stem cells: ex vivo models for human diseases due to mitochondrial DNA mutations
C Chen, MX Guan - Journal of Biomedical Science, 2023 - Springer
Mitochondria are essential organelles for cellular metabolism and physiology in eukaryotic
cells. Human mitochondria have their own genome (mtDNA), which is maternally inherited …
cells. Human mitochondria have their own genome (mtDNA), which is maternally inherited …
Modeling mitochondrial DNA diseases: from base editing to pluripotent stem‐cell‐derived organoids
I Tolle, V Tiranti, A Prigione - EMBO reports, 2023 - embopress.org
Mitochondrial DNA (mtDNA) diseases are multi‐systemic disorders caused by mutations
affecting a fraction or the entirety of mtDNA copies. Currently, there are no approved …
affecting a fraction or the entirety of mtDNA copies. Currently, there are no approved …
Induced pluripotent stem cells derived from patients carrying mitochondrial mutations exhibit altered bioenergetics and aberrant differentiation potential
F Meshrkey, KM Scheulin, CM Littlejohn… - Stem Cell Research & …, 2023 - Springer
Background Human mitochondrial DNA mutations are associated with common to rare
mitochondrial disorders, which are multisystemic with complex clinical pathologies. The …
mitochondrial disorders, which are multisystemic with complex clinical pathologies. The …
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 …
Mitochondrial Inheritance Following Nuclear Transfer: From Cloned Animals to Patients with Mitochondrial Disease
JP Burgstaller, MR Chiaratti - Somatic Cell Nuclear Transfer Technology, 2023 - Springer
Mitochondria are indispensable power plants of eukaryotic cells that also act as a major
biochemical hub. As such, mitochondrial dysfunction, which can originate from mutations in …
biochemical hub. As such, mitochondrial dysfunction, which can originate from mutations in …
[HTML][HTML] Selection of iPSCs without mtDNA deletion for autologous cell therapy in a patient with Pearson syndrome
Y Lee, J Han, SB Hwang, SS Kang, HB Son, C Jin… - BMB …, 2023 - ncbi.nlm.nih.gov
Screening for genetic defects in the cells should be examined for clinical application. The
Pearson syndrome (PS) patient harbored nuclear mutations in the POLG and SSBP1 genes …
Pearson syndrome (PS) patient harbored nuclear mutations in the POLG and SSBP1 genes …