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Coenzyme Q (CoQ) is a small lipophilic molecule that transports electrons between mitochondrial respiratory chain complexes and functions as a cofactor for mitochondrial enzymes. De plus, nous expédions COQ4 Anticorps (9) et et beaucoup plus de produits pour cette protéine.
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The COQ4 mutation was CRISPR/Cas9 edited resulting in isogenic, diploid and off-target free COQ4-corrected iPSCs.
Three genes in our epilepsy cohort (COQ4, DNM1 (Montrer DNM1 Protéines), and PURA (Montrer PURA Protéines)), accounting for 14% (3/21) of all novel genetic etiologies identified in patients with epilepsy, were subsequently confirmed in independent publications.
five recessive missense mutations in COQ4 segregating with lethal neonatal mitochondrial encephalomyopathy in four families of Ashkenzi Jews
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.
Haploinsufficiency in COQ4 resulted in reduced COQ4 expression, CoQ10 content and biosynthetic rate, and activities of respiratory chain complex II+III.
Human ortholog of Saccharomyces cerevisiae COQ4 was cloned and characterized.
Coenzyme Q (CoQ) is a small lipophilic molecule that transports electrons between mitochondrial respiratory chain complexes and functions as a cofactor for mitochondrial enzymes. COQ4 is an enzyme involved in CoQ biosynthesis (Casarin et al., 2008
Coenzyme Q biosynthesis protein 4 homolog
, ubiquinone biosynthesis protein COQ4 homolog, mitochondrial
, coenzyme Q biosynthesis protein 4 homolog