Polyclonal Rabbit ADCK3 Antibody
- Known as:
- Polyclonal Rabbit ADCK3 Antibody
- Catalog number:
- KA0099
- Product Quantity:
- 100ul
- Category:
- -
- Supplier:
- KareBay
- Gene target:
- Polyclonal Rabbit ADCK3 Antibody
Related genes to: Polyclonal Rabbit ADCK3 Antibody
- Gene:
- COQ8A NIH gene
- Name:
- coenzyme Q8A
- Previous symbol:
- CABC1, ADCK3
- Synonyms:
- COQ8, SCAR9
- Chromosome:
- 1q42.13
- Locus Type:
- gene with protein product
- Date approved:
- 2001-10-31
- Date modifiied:
- 2019-04-23
Related products to: Polyclonal Rabbit ADCK3 Antibody
Related articles to: Polyclonal Rabbit ADCK3 Antibody
- Mitochondrial disorders are multisystem diseases associated with wide phenotypic variability and significant morbidity. Clinical manifestations include asymptomatic carrier states, cardiac conduction abnormalities, hearing loss with or without diabetes, maternally inherited diabetes and deafness, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like (MELAS) syndrome are some of the varied symptoms. A 12-year-old male patient presented with a 7-day history of refractory seizures (20-25 episodes daily) each lasting for 5-10 seconds, characterized by right-sided ocular and facial deviation for which he was evaluated, and magnetic resonance imaging revealed gyriform hyperintense signal in the left temporoparietofrontal cortex, right occipital cortex and right posterior temporal cortex, on T2-weighted/FLAIR, appearing hypointense on T1-weighted images,with diffusion-weighted image (DWI) and low apparent diffusion coefficient values.. Ill-defined hyperintense signal noted in bilateral gray matter and juxtacortical white matter on T2W1/FLAIR, appearing T1 hypointense without diffusion restriction on DWI, likely due to gliosis. Whole-exome sequencing (WES) using the Illumina NovaSeq 6000 platform revealed a pathogenic variant in the COQ8A gene associated with primary coenzyme Q10 deficiency. Post-WES report, the child was started on supplements as per the report, and over time, seizure episodes reduced and the patient was discharged. Primary Q10 deficiency due to COQ8A mutation can present with MELAS and refractory seizures. Recognition of mitochondrial stroke mimics and early genetic diagnosis are essential to guide metabolic therapy and outcomes. - Source: PubMed
Publication date: 2026/04/17
Reddy Suram BharathDaru AvinashPande VineetaChalipat ShijiSai Pachipulusu Bala Venkata Subrrahmanya - 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 - Pathogenic variants in COQ8A cause a rare form of primary coenzyme Q10 (CoQ10) deficiency that can lead to childhood-onset cerebellar ataxia and developmental delay. However, reports of pediatric cases remain limited, and evidence regarding therapeutic response to CoQ10 supplementation in children is still scarce. - Source: PubMed
Publication date: 2026/01/16
Motoi HirotakaWatanabe RisaShirai AyanoSakata YusukeKuroda YukikoWatanabe YoshihiroIto Shuichi - This study aimed to identify specific EEG features of status epilepticus (SE) in patients with mitochondrial diseases and correlate them with clinical and neuroimaging findings. - Source: PubMed
Publication date: 2026/02/23
Damiano MariaLambrecq VirginieNguyen-Michel Vi-HuongMarois ClémenceRucheton BenoitMochel FannyGourfinkel-An IsabelleDemeret SophieNavarro Vincent - Mutations in COQ8A cause primary coenzyme Q10 deficiency, which can present clinically heterogeneously: Symptoms range from cerebellar ataxia, epilepsy, encephalomyopathy, macular degeneration to nephropathy. High-dose coenzyme Q10 supplementation is widely used, yet there is little evidence on complementary strategies, particularly for non-epileptic features such as cerebellar ataxia. - Source: PubMed
Publication date: 2026/02/12
Hahn WiebkeErffmeier KarlaSchulze MaximilianZahnert FelixKnake SusanneTsalouchidou Panagiota-Eleni