Ask about this productRelated genes to: PDSS2 antibody
- Gene:
- PDSS2 NIH gene
- Name:
- decaprenyl diphosphate synthase subunit 2
- Previous symbol:
- C6orf210
- Synonyms:
- bA59I9.3, COQ1B
- Chromosome:
- 6q21
- Locus Type:
- gene with protein product
- Date approved:
- 2003-11-26
- Date modifiied:
- 2019-03-13
Related products to: PDSS2 antibody
Related articles to: PDSS2 antibody
- Coenzyme Q10 (CoQ10) is a lipid-soluble redox cofactor essential for mitochondrial electron transport, membrane stabilization, and antioxidant defense in its reduced form. Broad clinical utility has been hampered by poor oral bioavailability and low tissue uptake using nutraceutical formulations. BPM31510 is a novel pharmaceutical nanotechnology formulated with oxidized CoQ10 as a lipid nanoparticle designed to enhance systemic exposure and mitochondrial concentration. Using UHPLC-MS/MS, we quantified oxidized CoQ10, reduced CoQ10, and oxidized CoQ9 in BPM31510- and CoQ10-treated SH-SY5Y neuroblastoma cells following para-aminobenzoic acid (PABA)-induced CoQ deficiency. BPM31510 significantly increased all three analytes and raised ATP content in SH-SY5Y cells more effectively than solubilized CoQ10. In patient-derived fibroblasts with PDSS2, COQ2, or COQ8A mutations, BPM31510 outperformed nutraceutical formulations in enriching CoQ10 levels. In vivo, C57BL/6J mice received BPM31510 (10 or 50 mg/kg, intraperitoneal) or oral CoQ10 twice daily for 14 days. BPM31510 substantially increased oxidized and reduced CoQ10 in plasma, liver, heart, and adipose tissue, enhancing the overall CoQ pool relative to oral CoQ10. MALDI mass spectrometry imaging confirmed oxidized CoQ10 accumulation in myocardial tissue beyond the vasculature, consistent with UHPLC-MS/MS findings. These results demonstrate that BPM31510 targets bioactive CoQ10 to metabolically active tissues, overcoming limitations of oral supplementation, and may provide therapeutic benefit for primary and secondary CoQ10 deficiencies and other mitochondrial or metabolic disorders marked by impaired redox balance and energy homeostasis. - Source: PubMed
Aristizabal-Henao Juan JWessel Sarah RStopka Sylwia AKarmacharya SradaVan Cura DevonPesini AlbaNickerson Kelsey RGrover KashniZavidij OksanaRavi ArchnaMota Andressa LRosen Kenneth MNastke Maria-DorotheaCox Megan KNarain Niven RModur VijayQuinzii Catarina MGesta StephaneKiebish Michael A - To clarify the genetic classification, diagnostic strategies, and precision treatment pathways of steroid-resistant nephrotic syndrome (SRNS), this review systematically reviews the genetic stratification system of SRNS by integrating recent advances in genetic testing technologies and pathogenesis research. It contains the pathogenic mechanisms, diagnostic protocols, and therapeutic correlations of different genetic subtypes, while summarizing current progress and clinical challenges in gene therapy. Results indicate SRNS can be categorized into genetic (38-58%) and non-genetic/immune-mediated (40-60%). A stepwise diagnostic system comprising core proteinuria gene panel testing, whole-genome sequencing (WGS), whole-exome sequencing (WES), and supplementary multi-omics/long-range sequencing is proposed, suited for populations with "typical phenotypes and moderate genetic risk", "atypical phenotypes and high genetic suspicion", and "complex structural/non-coding region variants" respectively. Pathogenic mechanisms directly determine therapeutic strategies: mutations respond to coenzyme Q10 suplementation, while mutations necessitate early renal transplantation. Adeno-associated virus (AAV)-mediated gene therapy and CRISPR-Cas editing show preclinical promise but face challenges including incomplete detection coverage and clinical translation difficulties. Genetic technologies are driving SRNS management transformation from "empirical treatment" to "mechanism-oriented precision diagnosis and therapy". Future efforts should focus on overcoming genetic testing limitations and gene therapy translation bottlenecks to enhance diagnostic and therapeutic efficacy. - Source: PubMed
Publication date: 2026/03/19
Ye YuhongHuang LiminFu HaidongWang JingjingJin Yanyan - Coenzyme Q10 is a lipid-soluble antioxidant essential for the mitochondrial electron transport chain. Its concentration in the body decreases with age. The biosynthesis of coenzyme Q10 involves enzymes coq1 (PDSS1, PDSS2) through coq9, though the regulatory mechanisms of their gene expression and enzyme activities are unknown. SIRT1, an anti-aging gene, regulates various transcription factors. This study investigates the impact of SIRT1 knockdown on the gene expression of coenzyme Q10 biosynthetic enzymes and coenzyme Q10 levels in MDA-MB-231 and HepG2 cells. SIRT1 knockdown significantly increased gene expression in MDA-MB-231 cells, while and expression decreased. In HepG2 cells, expression also increased, but and expression remained unchanged. Coenzyme Q10 levels increased in both cell lines. Further experiments with PGC-1α and NRF1 knockdown, downstream factors of SIRT1, in MDA-MB-231 cells showed no change in expression, while and expression decreased, and coenzyme Q10 levels remained unchanged. These findings suggest that the increase in coenzyme Q10 levels following SIRT1 knockdown may be attributed to , indicating a pathway distinct from PGC-1α and NRF1. - Source: PubMed
Publication date: 2026/01/10
Okuizumi RenaMaruyama SatsukiOkamoto MizuhoFujisawa AkioYamamoto YorihiroKashiba Misato - Many Parkinson's disease patients receiving oral levodopa/carbidopa experience a troublesome wearing off effect. Higher doses to mitigate OFF-time are limited by adverse effects occurring at peak dopamine levels, particularly dyskinesia. A novel strategy to reduce OFF-time without increasing peak dopamine levels is the continuous subcutaneous infusion of levodopa/carbidopa, or their prodrug equivalents foslevodopa/foscarbidopa. - Source: PubMed
Burton MatthewMarsden DuncanHarish DhruvMorris PeterHeneghan CarlButler AilsaNunan David - Nocturnal hypokinesia (NH) (i.e., reduced bed mobility) is common in people with Parkinson's Disease (PwPD), significantly affecting sleep quality. Physiotherapy showed encouraging results to treat this symptom but was poorly investigated. Moreover, telerehabilitation could be useful to increase treatment capillarity and to overcome logistic limitations. In this pilot study we investigated preliminary feasibility, safety and effectiveness of a telerehabilitation program in mild-to-moderate PwPD with NH. - Source: PubMed
Publication date: 2026/01/17
Bianchini EdoardoBianchini FrancescoLombardo PietroGalli SilviaD'Audino FlaviaAlborghetti MarikaRinaldi Domiziana