Ask about this productRelated genes to: CAV2 Blocking Peptide
- Gene:
- CAV2 NIH gene
- Name:
- caveolin 2
- Previous symbol:
- -
- Synonyms:
- CAV
- Chromosome:
- 7q31.2
- Locus Type:
- gene with protein product
- Date approved:
- 1998-03-02
- Date modifiied:
- 2016-10-05
Related products to: CAV2 Blocking Peptide
Related articles to: CAV2 Blocking Peptide
- Pathological variants in neuronally expressed genes cause severe disorders, and therapeutic strategies often depend on understanding how these mutations alter protein function. For ion channels, patient variants are typically characterized biophysically in heterologous expression systems. Here we describe a patient variant in CACNA1A, which encodes the P/Q-type calcium channel CaV2.1, for which heterologous assays obscure a potent functional impact. Mutations in CACNA1A underlie a spectrum of neurological disorders traditionally classified as either loss-of-function (LoF) or gain-of-function (GoF). However, many patients present with overlapping phenotypes that defy this binary framework. Here we characterize a CACNA1A variant, D1634N, identified in a patient with a complex clinical presentation that includes both typically LoF and GoF symptoms. While biophysical characterization of this variant in HEK293T cells support a classic and severe LoF effect, including smaller current density and a right-shifted current/voltage relationship, characterization of the effect of this variant in demonstrates that it paradoxically leads to spontaneous synaptic vesicle release, despite reduced channel expression. Molecular dynamics modeling predicts that this mutation increases dwell time of the channel in a partially-open state, potentially leading to increased leak current at rest, a prediction confirmed with biophysical recordings at hyperpolarized potentials and rescue of the phenotype by genetically raising resting membrane potential. Together this data describes a complex, mixed function variant that explains the clinical presentation of the patient, highlights the importance of cellular context in variant interpretation, and establishes as a powerful tool for evaluating functional properties of pathological channel variants. - Source: PubMed
Publication date: 2026/04/29
Krawchuk Michael BTiroumalechetty AravenZuluaga-Forero MaximilianoAugustine AlexaDong YongmingJackson NichelleJen Joanna CSnell Heather DBai JihongSpray David CKurshan Peri T - Canine infectious respiratory disease complex (CIRDC) causes contagious respiratory disease in dogs and encompasses several etiologic agents. Viral pathogens associated with CIRDC include canine adenovirus type 2 (CAV-2), canine distemper virus (CDV), canine herpesvirus-1 (CaHV-1) and canine influenza virus (CIV). Vaccine availability and efficacy vary and there are currently no antivirals available for treatment. Interferons (IFNs) are at the frontline of the immune defense against many viral infections and interferon lambda (IFNL) has shown to be a potent antiviral. We hypothesized that canine interferon lambda-3 (IFNL3) treatment of canine respiratory epithelial cells (ALI-CRECs) will reduce replication of kennel cough viruses. ALI-CRECs were isolated, cultured and characterized morphologically and immunologically prior to infection with CDV, CaHV-1, CIV and CAV-2. The value of canine IFNL3 treatment for reducing viral titers as well as induction of interferon responses were evaluated for each virus. Treatment of ALI-CRECs with IFNL3 induced the expression of interferon stimulated genes. In addition, prophylactic IFNL3 administration resulted in a reduction in viral DNA with CT value changes of up to 13 intracellularly and up to 9 extracellularly. In contrast, for CDV and CaHV-1 a reduction in viral RNA/DNA was observed only intracellularly with CT value changes of up to 11 and up to 4 respectively. Prophylactic IFNL3 treatment also significantly reduced viral titers 1.2 to 3 log-fold for CAV-2, 0.9-2.5 log-fold for CDV, and 1.1-1.7 log-fold for CaHV-1. No effect of IFNL3 was observed for CIV RNA and CIV viral titers. Coinciding with a reduction in viral replication, interferon stimulated genes were differentially expressed in interferon treated and infected cells when compared with controls. In conclusion, ALI-CRECs have shown to be excellent systems to study respiratory viruses and evaluate the potential antiviral effect of IFNL3. However further in-depth mechanistic studies are needed to fully understand how IFNL3 stimulates/modulates local immune responses to induce antiviral effects. Moreover, while this study highlights the potential antiviral efficacy of IFNL3 for several canine respiratory viruses, determination of safety, effective doses in vivo as well as therapeutic potential will have to be evaluated in dogs. - Source: PubMed
Publication date: 2026/05/03
Sharma SwatiBerros-Vazquez GloriánBaldwin KennedyMaes RogerHussey Gisela Soboll - Kv3.3 voltage-gated K (Kv) channels are highly expressed in cerebellar Purkinje neurons and some hippocampal neurons, aligning with the motor and cognitive impairments observed in spinocerebellar ataxia 13 (SCA13) caused by Kv3.3 mutations. Despite their functional significance, the mechanisms governing Kv3.3 subcellular localization remain poorly understood. Here we report microtubule-associated protein 6 (MAP6) regulates Kv3.3 axon-dendrite targeting. MAP6 deletion reduces Kv3.3 levels in the processes of Purkinje neurons. Mechanistically, MAP6's 1st and 2nd Mn modules directly bind the external surface of the Kv3.3 N-terminal T1 tetramer, while its 3rd Mn module indirectly associates with Cav2 Ca channels. In Purkinje neurons, shRNA-mediated MAP6 knockdown decreases somatodendritic levels of both Kv3.3 and Cav2.1 (associated with SCA6). Notably, expression of Mn1/2-GFP selectively reduces Kv3.3, but not Cav2.1, levels. Purkinje neuron burst firing is reduced in both conditions. These findings uncover a MAP6-dependent mechanism for targeting two key ion channels linked to SCAs. - Source: PubMed
Publication date: 2026/04/30
Ma DiNalinakshan NandithaMarshall Alec HJukkola PeterBosc ChristopheGory-Fauré SylvieAndrieux AnnieWester Jason CGu Chen - CACNA1A encodes the Cav2.1 (P/Q-type) channel whose spectrum extends from FHM1/EA2/SCA6 to epilepsy and vertigo, but penetrance-especially sex differences-remains unclear. We report a three-generation family with CACNA1A c.5610del, detail electroclinical features, assess sex-stratified penetrance, and discuss individualised therapy. - Source: PubMed
Publication date: 2026/05/01
Long ZhongyuanGong ShuxianJi DongyanGuo XuanSui LisenYang XiaofengYu Jiabin - Norepinephrine (NE) in the peripheral nervous system plays crucial roles in regulating peripheral organs in health and disease. However, the spatiotemporal dynamics of sympathetic NE release and its underlying mechanisms remain poorly characterized due to technical challenges. Here, we developed and validated a Slice ElectroChemistry (SEC) method to record sympathetic NE release in heart slices with combined super-resolution and high sensitivity at 1 μm × 1 ms × 1 nM as in patch-clamp recordings. By using the SEC method, we revealed the increased NE release, impaired NE reuptake, increased releasable NE-vesicle pool, and impaired vesicle recycling of sympathetic nerves in the heart of transverse aortic constriction-induced heart failure (HF) mouse model, and defined the increased expression of Cav2.2 calcium channel as a central mechanism mediating the facilitation of NE release and thus the pathogenesis of HF, clarifying a longstanding puzzle about the kinetic changes of cardiac sympathetic NE release in HF. Beyond the heart, SEC enables NE release recording in other peripheral organs and human tissues, providing a robust toolset to investigate sympathetic NE dynamics across diverse pathophysiological conditions. - Source: PubMed
Publication date: 2026/04/27
Liu BingJiang XiaohanGuo ShuKang XinjiangLü JingWang ShirongYao WeiOu XianhongYan JingLi TianGu JingliXiu YunLei QianXu HuadongJin MuZhang QuanfengLiu BinZheng LianghongLiu KunZhu FeipengXiao RuipingZhang YanWang ChangheLi LihuanCao JiminZhou Zhuan