ATP5G3
- Known as:
- ATP5G3
- Catalog number:
- 002201A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- ATP5G3
Related genes to: ATP5G3
- Gene:
- ATP5MC3 NIH gene
- Name:
- ATP synthase membrane subunit c locus 3
- Previous symbol:
- ATP5G3
- Synonyms:
- -
- Chromosome:
- 2q31.1
- Locus Type:
- gene with protein product
- Date approved:
- 1994-08-10
- Date modifiied:
- 2017-11-22
Related products to: ATP5G3
Related articles to: ATP5G3
- Dystonia frequently coexists with Parkinson's disease (PD), yet the extent of genetic overlap remains insufficiently explored. - Source: PubMed
Publication date: 2026/08/01
Kanagasingam SajanthParlar Sitki CemLiu LangGan-Or ZivSenkevich Konstantin - Autophagic vacuoles in muscle fibers are a characteristic finding in several muscle diseases and usually indicate perturbed lysosomal protein degradation. Some of these are associated with defects in proteins directly involved in autophagy and lysosomal degradation. The gene CLN8 encodes an endoplasmic reticulum transmembrane protein, previously associated with childhood-onset neuronal ceroid lipofuscinosis (NCL), a group of lysosomal storage diseases. We describe the clinical features and results from pathology, genetic, and proteomic investigations in an adult-onset myopathy with autophagic vacuoles associated with biallelic variants in CLN8. A 40-year-old woman presented with seizures followed by transient muscle weakness and myalgia. Creatine kinase and myoglobin levels were moderately elevated. Over time, she developed progressive muscle weakness and cognitive fatigue. Muscle biopsy showed an autophagic vacuolar myopathy with fat tissue replacement and increased interstitial connective tissue. There was a marked immunohistochemical increase of markers of autophagy such as lysosomal-associated membrane protein 2 (LAMP2), microtubule-associated protein 1A/1B-light chain 3 (LC3), and sequestosome1/p62, as well as lysosomal deposition of curvilinear-like, autofluorescent material containing subunit c of mitochondrial adenosine triphosphate (ATP) synthase (mitochondrial ATP synthase membrane subunit c locus 3 [ATP5MC3/SCMAS]), typical for some forms of NCLs, including CLN8. Blood lymphocytes showed typical fingerprint inclusions. Genetic analysis revealed biallelic CLN8 variants, c.511C>T; p.P171S and c.536T>A; p.L179H. Proteomic analysis demonstrated upregulation of proteins involved in autophagy, muscle regeneration, and protein turnover. Proteins associated with oxidative phosphorylation were downregulated, except for ATP5MC3/SCMAS, which showed accumulation. In conclusion, we describe a novel myopathy with autophagic vacuoles and characteristic features of ceroid lipofuscinosis, including autophagosomal/lysosomal deposition of curvilinear-like, autofluorescent material containing ATP5MC3/SCMAS. This disease appears to be an unusual adult-onset form of CLN8. - Source: PubMed
Publication date: 2026/07/26
Lindgren UlrikaHedberg-Oldfors CarolaVisuttijai KittichateNordström SaraGoebel HansOldfors Anders - Vasculitis is a heterogeneous inflammatory vascular disorder with substantial clinical and molecular diversity. However, hypoxia-associated molecular subtypes in pediatric vasculitis and their differences from adult vasculitis remain poorly defined. - Source: PubMed
Publication date: 2026/06/26
Liu Bin - Tendinopathy is a common musculoskeletal disorder that increases the risk of tendon rupture if not properly treated. Current local injection therapies require frequent administration, and no fully effective drug is yet available. Curcumin (Cur) exhibits excellent anti-inflammatory and antioxidant effects, but its poor water solubility and low stability limit its clinical application. To overcome these challenges, this study encapsulated Cur into pluronic F127-based nanomicelles (Cur-F127) to improve its aqueous solubility and stability. Subsequently, the micelles were incorporated into a hydrogel network (Cur-F127&gel) formed by oxidized hyaluronic acid (oxi-HA) and adipic acid dihydrazide (ADH) to achieve sustained release. The resulting Cur-F127 micelles had a particle size of 20.14 ± 0.287 nm, an encapsulation efficiency (EE%) of 89.95 ± 0.60%, and a drug loading (DL%) of 5.57 ± 0.05%. The composite hydrogel possessed a loose, porous three-dimensional network, excellent biocompatibility, and favorable degradation behavior. The system enabled sustained release of Cur for over 20 days without an initial burst. In a rat model of tendinopathy, Cur-F127&gel significantly promoted tendon repair, as evidenced by reduced inflammatory cell infiltration, improved collagen fiber alignment, restored expression of key mitochondrial-related proteins (Ndufs3, Uqcrq, Uqcr10, Atp5mc3), and alleviated oxidative stress damage demonstrated by increased SOD activity and decreased MDA content in tendon tissue, thereby suppressing disease progression. This injectable sustained-release hydrogel system for poorly soluble drugs provides an effective approach for the local, long-acting delivery of Cur and long-term repair of tendinopathy, highlighting its potential value for clinical application. - Source: PubMed
Publication date: 2026/02/07
Wang ShuangWu KeyiSun MeiqiWang XinruiLi JingyingZhang GuorongQiu Zhidong - Diabetic kidney disease (DKD) is a multifactorial complication of diabetes involving mitochondrial dysfunction and immune cell infiltration. However, the causal relationships remain unclear. - Source: PubMed
Publication date: 2025/12/25
Zhang TianyueWu JunxiaZhang JiazhiHu YepengZhao YimingMao GuangyunJiao JingjingWang JunChen RiqiuZheng Chao