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
- Adaptive deep brain stimulation (aDBS) dynamically modulates stimulation parameters in real time based on ongoing neural activity, potentially overcoming key limitations of conventional continuous DBS (cDBS) in Parkinson's disease (PD). - Source: PubMed
Publication date: 2026/05/08
Soares CarolinaBorges GabrielFerreira-Pinto Manuel J - Growth differentiation factor 15 (GDF-15) has emerged as a potential biomarker for neurodegenerative diseases. Although elevated serum GDF-15 levels have been reported in Parkinson's disease (PD), their association with clinical features has not been fully characterized. - Source: PubMed
Publication date: 2026/04/29
Miyaue NoriyukiYabe HayatoYasugi MinaNagai Masahiro - Primary coenzyme Q10 (CoQ10) deficiency results from mutations in genes involved in the CoQ10 biosynthetic pathway. In humans, at least 10 genes (, to ) are required for the biosynthesis of functional CoQ10, a mutation in any one of which can result in a deficit in CoQ10 status and present as primary CoQ10 deficiency. Furthermore, the genes and , whilst not part of the , to gene sequence, have also been shown to have a crucial role in CoQ10 biosynthesis. A major problem in treating primary CoQ10 deficiencies is the poor bioavailability of supplemental CoQ10, both in terms of lack of absorption from the digestive tract and inability to cross the human blood-brain barrier. Bypass strategies aim to circumvent this problem by using more bioavailable precursor analogues that can enter the cell and be incorporated into the CoQ10 synthesis pathway downstream of the affected enzyme, examples being 4-hydroxybenzoic acid, 2,4-dihydroxybenzoic acid or vanillic acid, which, in contrast to CoQ10, are small, water-soluble molecules. In this article, we have, therefore, reviewed potential bypass mechanisms for primary CoQ10 deficiencies, PDSS1, PDSS2 to COQ10, together with NDUFA9 and HPDL, using such precursors. Most of the published data relating to the bypass therapy of primary CoQ10 deficiency is derived from cell lines or animal models, and few human studies have so far been undertaken. In addition, further research is required to investigate the potential mechanisms by which bypass compounds such as 4-HB may access the human blood-brain barrier (BBB), for example, using in vitro co-culture BBB model systems incorporating CoQ10-deficient neurons. Overall, the objective of this article is, therefore, to systematically review the available data for each of the primary CoQ10 deficiencies, PDSS1, PDSS2 to COQ10 together with NDUFA9 and HPDL, in particular to identify the clinical potential of such studies. - Source: PubMed
Publication date: 2026/04/15
Mantle DavidCufflin NeveHargreaves Iain P - To explore the relationship between the substantia nigra and the locus coeruleus volumes (SNV and LCV, respectively) measured with 3D neuromelanin-sensitive magnetic resonance imaging (NMI) and motor/non-motor symptoms after deep brain stimulation (DBS) in patients with advanced Parkinson's disease (PD). - Source: PubMed
Publication date: 2026/04/28
Hanawa AiMatsuura KeitaKajikawa HiroyukiMatsuda KanaNakamura NaokoUtsunomiya TakayaMiyashita KoichiKagawa KenIi YuichiroWakita HideakiShindo Akihiro - 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