PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 34408002-7 2021 Mechanistically, PDSS1, but not a catalytically inactive mutant, positively regulated the cellular level of coenzyme Q10 (CoQ10) and intracellular calcium levels, thereby inducing CAMK2A phosphorylation, which is essential for STAT3 phosphorylation in the cytoplasm. coenzyme Q10 108-120 decaprenyl diphosphate synthase subunit 1 Homo sapiens 17-22 22231380-8 2012 The increasing number of molecular defects in enzymes of the CoQ(10) biosynthetic pathways (PDSS1, PDSS2, COQ2, COQ6, COQ9, CABC1/ADCK3) underlies the importance of these conditions. coenzyme Q10 61-68 decaprenyl diphosphate synthase subunit 1 Homo sapiens 92-97 33285023-5 2021 The visual system seems to be mainly involved when the first steps of CoQ10 synthesis are impaired (PDSS1, PDSS2, and COQ2 deficiency). coenzyme Q10 70-75 decaprenyl diphosphate synthase subunit 1 Homo sapiens 100-105 34408002-7 2021 Mechanistically, PDSS1, but not a catalytically inactive mutant, positively regulated the cellular level of coenzyme Q10 (CoQ10) and intracellular calcium levels, thereby inducing CAMK2A phosphorylation, which is essential for STAT3 phosphorylation in the cytoplasm. coenzyme Q10 122-127 decaprenyl diphosphate synthase subunit 1 Homo sapiens 17-22 34765390-1 2021 We report a detailed clinical examination in a patient with primary coenzyme Q10 deficiency caused by biallelic mutations in the PDSS1 gene who presented clinical features of mitochondrial encephalopathy associated with pulmonary hypertension, livedo reticularis and particularly, chronic distal phalangeal erythema. coenzyme Q10 68-80 decaprenyl diphosphate synthase subunit 1 Homo sapiens 129-134 34765390-6 2021 This is the first reported patient with PDSS1 mutations presenting with 3-methyl-glutaconic aciduria and distal phalangeal erythema, expanding the phenotype of primary coenzyme Q10 deficiency. coenzyme Q10 168-180 decaprenyl diphosphate synthase subunit 1 Homo sapiens 40-45