Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolism
S Kenvin, R Torregrosa-Muñumer… - Human Molecular …, 2022 - academic.oup.com
Mutations in mitochondrial DNA encoded subunit of ATP synthase, MT-ATP6, are frequent
causes of neurological mitochondrial diseases with a range of phenotypes from Leigh …
causes of neurological mitochondrial diseases with a range of phenotypes from Leigh …
Development and characterization of cell models harbouring mtDNA deletions for in vitro study of Pearson syndrome
C Hernández-Ainsa, E López-Gallardo… - Disease Models & …, 2022 - journals.biologists.com
Pearson syndrome is a rare multisystem disease caused by single large-scale mitochondrial
DNA deletions (SLSMDs). The syndrome presents early in infancy and is mainly …
DNA deletions (SLSMDs). The syndrome presents early in infancy and is mainly …
Single-cell multi-omics reveals dynamics of purifying selection of pathogenic mitochondrial DNA across human immune cells
CA Lareau, SM Dubois, FA Buquicchio, YH Hsieh… - bioRxiv, 2022 - biorxiv.org
Cells experience intrinsic and extrinsic pressures that affect their proclivity to expand and
persist in vivo. In congenital disorders caused by loss-of-function mutations in mitochondrial …
persist in vivo. In congenital disorders caused by loss-of-function mutations in mitochondrial …
Comparison of mitochondrial DNA sequences from whole blood and lymphoblastoid cell lines
C Liu, JL Fetterman, X Sun, K Yan, P Liu, Y Luo… - Scientific Reports, 2022 - nature.com
Lymphoblastoid cell lines (LCLs) provide an unlimited source of genomic DNA for genetic
studies. Here, we compared mtDNA sequence variants, heteroplasmic or homplasmic …
studies. Here, we compared mtDNA sequence variants, heteroplasmic or homplasmic …
Modeling mitochondrial disorders of the Leigh syndrome spectrum using human patient-derived cells and iPSC technology
CJ Lorenz-Brunne - 2022 - refubium.fu-berlin.de
Leigh syndrome (LS) is a progressive neurodegenerative disorder characterized by the
presence of bilateral symmetrical lesions predominantly in basal ganglia, brainstem, and …
presence of bilateral symmetrical lesions predominantly in basal ganglia, brainstem, and …