CACNa1E ELISA kit
- Known as:
- CACNa1E Enzyme-linked immunosorbent assay test reagent
- Catalog number:
- DL-CACNa1E-Mu
- Product Quantity:
- 96T
- Category:
- Elisa Kits
- Supplier:
- WDSTD
- Gene target:
- CACNa1E ELISA kit
Related genes to: CACNa1E ELISA kit
- Gene:
- CACNA1E NIH gene
- Name:
- calcium voltage-gated channel subunit alpha1 E
- Previous symbol:
- CACNL1A6
- Synonyms:
- Cav2.3, BII, CACH6
- Chromosome:
- 1q25.3
- Locus Type:
- gene with protein product
- Date approved:
- 1994-12-20
- Date modifiied:
- 2016-02-04
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- Malignant hyperthermia susceptibility (MHS; OMIM 145600, 601887) is a pharmacogenetic condition in which exposure to volatile anesthetics and/or succinylcholine can trigger a potentially life-threatening hypermetabolic crisis of skeletal muscle. MHS is predominantly associated with pathogenic variants in , whereas contributes a substantially smaller proportion of genetically confirmed cases. Estimating the population prevalence of MHS is challenging because manifestation requires exposure to a triggering agent, penetrance is incomplete, and the evidentiary strength supporting individual variants varies considerably. In this study, MHS-associated and variants were compiled from four complementary resources-EMHG, ClinGen MHS VCEP, HGMD, and ClinVar-and subjected to source-specific pathogenicity and phenotype filtering. A total of 13,918 unique reported variants were initially identified. Progressive evidence-based curation generated three nested variant tiers: a high-confidence Expert tier comprising 102 variants; an expanded HGMD-inclusive tier comprising 446 variants; and a full expanded ClinVar-inclusive tier comprising 593 variants. Population allele frequencies were evaluated using gnomAD v4.1.0 and the Russian GDB v1.3.4 database. The high-confidence Expert tier yielded genetically inferred MHS frequencies of approximately 1 in 807 in gnomAD and 1 in 1078 in GDB. Inclusion of HGMD-derived variants increased the corresponding estimates to approximately 1 in 50 and 1 in 104, respectively. - Source: PubMed
Publication date: 2026/09/19
Efremova EkaterinaBaranova ElenaEsibov AntonRozhkova AnastasiiaRutkovskaya EkaterinaKrupinova JuliaMityaeva OlgaWoroncow MaryAbdullaev SherzodMirzaev KarinBogdanov ViktorVolchkov PavelSychev Dmitry - Lung cancer recurrence and therapeutic resistance are driven by cancer stem cells (CSCs), yet clinically available CSC-targeted therapies remain lacking. To identify actionable anti-CSC agents, we screened 1018 FDA-approved drugs using a 3D sphere culture system enriching lung CSC-like cells. Trimebutine, a gastrointestinal motility regulator targeting G-protein-coupled receptors (GPCRs), was identified as a potent agent with over 49.5-fold higher selectivity toward lung CSC-like cells (SI > 49.55) compared with standard therapies such as cisplatin (SI = 1.39) and gefitinib (SI = 1.00). In H460-SP spheres, trimebutine markedly impaired sphere-forming capacity, reduced cell viability, and downregulated key CSC surface markers (CD133, CD44) alongside stemness regulators (c-MYC, EpCAM, BMI1, OCT3/4, NANOG, SOX2, SMAD3). Mechanistically, trimebutine suppressed overexpressed calcium and potassium channels (, , , , ), attenuating downstream YAP/TAZ-TEAD signaling within the Hippo pathway to trigger apoptosis. In combination with cisplatin, trimebutine exhibited strong synergistic efficacy (Chou-Talalay combination index, CI = 0.015-0.228) in H460-SP spheres and patient-derived lung tumor organoids, suppressing cell viability, stemness marker suppression, and apoptotic cleavage of caspase-3 and PARP compared to monotherapies. Overall, trimebutine targets lung CSC populations by disrupting GPCR-ion channel-Hippo signaling crosstalk, providing a strong preclinical rationale for trimebutine-cisplatin combination strategies to overcome drug resistance and recurrence in lung cancer. - Source: PubMed
Publication date: 2026/09/15
Seo JiHyeLee HeejinChoi Dong KyuKim Young-KyuWoo SominLee ChangkyuChoi Jeong InJiang GeOh Bae JunLee Dong-SeokMin Sang-Hyun - Hypokalemic periodic paralysis (HypoPP) is an inherited skeletal muscle ion channelopathy of or characterized by recurrent episodes of weakness, often triggered by rest after exercise or by reduced K+ (carbohydrate ingestion, stress). Here, we describe a multigenerational family in whom a missense variant [c.834A>C (p.Arg278Ser)] co-segregated with susceptibility to recurrent attacks of weakness in association with hypokalemia as low as 1.3 mEq/L and a 40% decrement of the compound muscle action potential after exercise, suggesting an additional HypoPP gene. Arg278 is the outermost positively charged residue (R1) within the S4 transmembrane segment of the voltage-sensor domain of K 1.7, orthologous to the canonical patten of arginine missense mutations at R1 or R2 in S4 segments for HypoPP-mutant Ca 1.1 and Na 1.4 channels. To determine the functional consequences of Arg278Ser, we expressed wild-type and mutant K 1.7 channels in oocytes and HEK293 cells. Arg278Ser, but not wild-type K 1.7, generated an anomalous inwardly rectifying current at hyperpolarized membrane potentials that was nonselective Na or K , consistent with the anomalous gating pore conductance that causes susceptibility to HypoPP. Other pathogenic variants of have previously been implicated only in inherited cardiac arrhythmias. Collectively, the genetic, structural and electrophysiological findings support Arg278Ser as a pathogenic variant underlying HypoPP and implicate as a disease gene for periodic paralysis, extending the established gating-pore mechanism of HypoPP to K 1.7. - Source: PubMed
Publication date: 2026/09/14
Liaqat KhurramSaha GouravGuo ShuaiTreat KaylaWu FenfenThahiem Summan Kincaid John CRubart-von der Lohe MichaelVetrini FrancescoCannon StephenConboy Erin - Hypokalemic periodic paralysis (HypoPP) is an autosomal dominant disorder caused by a p.Arg528His mutation in the CACNA1S gene, which encodes the α1-subunit of the skeletal muscle L-type calcium channel. The mutation causes leaky ion flow and impairs muscle excitation-contraction coupling. Patients exhibit episodic paralysis, muscle attacks, and hypokalemia. Two human induced pluripotent stem cell (iPSC) lines were generated from HypoPP patients, SCVIi152-A and SCVIi153-A, each carrying the CACNA1S c.1583G>A (p.Arg528His) mutation. Both lines exhibited pluripotency marker expression at gene and protein levels, displayed a normal karyotype, and differentiated into all three germ layers in vitro. These lines are valuable resources for modeling HypoPP. - Source: PubMed
Publication date: 2026/09/17
Fernandez Haley MJahng James WLi DongZhou YangWu Joseph C - This study investigated the clinical course, clinical examination findings, and gross necropsy findings in 24 calves diagnosed with early-onset muscle weakness syndrome (MW) in Japan. Seven (29.2%) of the 24 calves remained unable to stand, whereas 17 (70.8%) were able to stand at least once either with or without assistance. One calf is still alive and under observation. Although some calves developed normally with resolved clinical signs, many were slow to stand and had an abnormal gait, suggesting reduced productivity. Neurological examinations revealed decreased patellar tendon reflex and flexion reflexes in both the forelimbs and hind limbs in calves with astasia. Necropsy revealed limb skeletal muscle atrophy in 53.8% calves with astasia and 33.3% calves without astasia. Pneumonia was also frequently observed in both groups. The clinical course varied among the 24 cases, but factors underlying this variability remain unclear. This study provides the first detailed description of MW in Holstein calves in Japan. - Source: PubMed
Publication date: 2026/09/16
Chiba EnaTsuchiya YoshiyukiFujie DaigoTakahashi HinakoItoh MegumiYoshida KioWatanabe Ken-IchiYamada ManabuKobayashi YoshiyasuNakamura MitsukiIshikawa RyoMaezawa MasakiNakayama YutaroChambers James KUchida KazuyukiMiyazaki YoshiyukiOgino AtsushiInokuma Hisashi