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• W2797959050 endingPage "1703" @default.
• W2797959050 startingPage "1687" @default.
• W2797959050 abstract "Abstract Coenzyme Q10 (CoQ10) plays a crucial role in mitochondria as an electron carrier within the mitochondrial respiratory chain (MRC) and is an essential antioxidant. Mutations in genes responsible for CoQ10 biosynthesis (COQ genes) cause primary CoQ10 deficiency, a rare and heterogeneous mitochondrial disorder with no clear genotype–phenotype association, mainly affecting tissues with high-energy demand including brain and skeletal muscle (SkM). Here, we report a four-year-old girl diagnosed with minor mental retardation and lethal rhabdomyolysis harboring a heterozygous mutation (c.483G &gt; C (E161D)) in COQ4. The patient’s fibroblasts showed a decrease in [CoQ10], CoQ10 biosynthesis, MRC activity affecting complexes I/II + III, and respiration defects. Bona fide induced pluripotent stem cell (iPSCs) lines carrying the COQ4 mutation (CQ4-iPSCs) were generated, characterized and genetically edited using the CRISPR-Cas9 system (CQ4ed-iPSCs). Extensive differentiation and metabolic assays of control-iPSCs, CQ4-iPSCs and CQ4ed-iPSCs demonstrated a genotype association, reproducing the disease phenotype. The COQ4 mutation in iPSC was associated with CoQ10 deficiency, metabolic dysfunction, and respiration defects. iPSC differentiation into SkM was compromised, and the resulting SkM also displayed respiration defects. Remarkably, iPSC differentiation in dopaminergic or motor neurons was unaffected. This study offers an unprecedented iPSC model recapitulating CoQ10 deficiency-associated functional and metabolic phenotypes caused by COQ4 mutation." @default.
• W2797959050 created "2018-04-24" @default.
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• W2797959050 date "2017-05-23" @default.
• W2797959050 modified "2023-10-18" @default.
• W2797959050 title "Genetic Rescue of Mitochondrial and Skeletal Muscle Impairment in an Induced Pluripotent Stem Cells Model of Coenzyme Q10 Deficiency" @default.
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• W2797959050 cites W1582903108 @default.
• W2797959050 cites W1823885789 @default.
• W2797959050 cites W1839614861 @default.
• W2797959050 cites W1963646113 @default.
• W2797959050 cites W1964324684 @default.
• W2797959050 cites W1967433085 @default.
• W2797959050 cites W1967794591 @default.
• W2797959050 cites W1971714188 @default.
• W2797959050 cites W1972621040 @default.
• W2797959050 cites W1977709885 @default.
• W2797959050 cites W1983053647 @default.
• W2797959050 cites W1988537141 @default.
• W2797959050 cites W1990897270 @default.
• W2797959050 cites W2000007558 @default.
• W2797959050 cites W2002927783 @default.
• W2797959050 cites W2010345740 @default.
• W2797959050 cites W2012152615 @default.
• W2797959050 cites W2013026879 @default.
• W2797959050 cites W2015947790 @default.
• W2797959050 cites W2019136342 @default.
• W2797959050 cites W2043175075 @default.
• W2797959050 cites W2044963760 @default.
• W2797959050 cites W2051366849 @default.
• W2797959050 cites W2051476652 @default.
• W2797959050 cites W2054521968 @default.
• W2797959050 cites W2061144812 @default.
• W2797959050 cites W2061162029 @default.
• W2797959050 cites W2061744036 @default.
• W2797959050 cites W2066058435 @default.
• W2797959050 cites W2066539318 @default.
• W2797959050 cites W2066560242 @default.
• W2797959050 cites W2068361256 @default.
• W2797959050 cites W2078712151 @default.
• W2797959050 cites W2081325408 @default.
• W2797959050 cites W2084124657 @default.
• W2797959050 cites W2087196823 @default.
• W2797959050 cites W2087527580 @default.
• W2797959050 cites W2092780119 @default.
• W2797959050 cites W2099914822 @default.
• W2797959050 cites W2100056144 @default.
• W2797959050 cites W2100417606 @default.
• W2797959050 cites W2101589244 @default.
• W2797959050 cites W2102424187 @default.
• W2797959050 cites W2103349112 @default.
• W2797959050 cites W2112444085 @default.
• W2797959050 cites W2115327051 @default.
• W2797959050 cites W2115486963 @default.
• W2797959050 cites W2125140996 @default.
• W2797959050 cites W2130128490 @default.
• W2797959050 cites W2142546630 @default.
• W2797959050 cites W2147096128 @default.
• W2797959050 cites W2154887758 @default.
• W2797959050 cites W2155124851 @default.
• W2797959050 cites W2155734183 @default.
• W2797959050 cites W2160298454 @default.
• W2797959050 cites W2161607871 @default.
• W2797959050 cites W2168744563 @default.
• W2797959050 cites W2235124392 @default.
• W2797959050 cites W2261932813 @default.
• W2797959050 cites W2271701705 @default.
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• W2797959050 doi "https://doi.org/10.1002/stem.2634" @default.
• W2797959050 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/28472853" @default.
• W2797959050 hasPublicationYear "2017" @default.
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