mouse SNTA1 antibody (clone AT1E1)
- Known as:
- mouse SNTA1 (anti-) (clonality AT1E1)
- Catalog number:
- ATGA0254
- Product Quantity:
- 50ul
- Category:
- -
- Supplier:
- ATGen
- Gene target:
- mouse SNTA1 antibody (clone AT1E1)
Related genes to: mouse SNTA1 antibody (clone AT1E1)
- Gene:
- SNTA1 NIH gene
- Name:
- syntrophin alpha 1
- Previous symbol:
- SNT1
- Synonyms:
- TACIP1, LQT12
- Chromosome:
- 20q11.21
- Locus Type:
- gene with protein product
- Date approved:
- 1994-12-14
- Date modifiied:
- 2019-04-23
Related products to: mouse SNTA1 antibody (clone AT1E1)
Related articles to: mouse SNTA1 antibody (clone AT1E1)
- Impaired glymphatic clearance has been implicated in Alzheimer's disease (AD) through reduced clearance of amyloid-β (Aβ) and other metabolites from the brain. Mislocalisation of aquaporin-4 (AQP4), a water channel protein anchored to astrocytic endfeet by the dystrophin-associated complex (DAC), has been linked to increased Aβ accumulation, neurodegeneration and cognitive impairment. In animal models, genetic ablation of DAC subunits, leading to AQP4 mislocalisation, increases Aβ accumulation. Genetic variation in has been examined in the context of AD, but variation in key DAC genes has not been systematically investigated in humans. This study examined whether variation within glymphatic pathway genes is associated with AD-related phenotypes in individuals on the AD trajectory. Associations between genetic variation in glymphatic pathway-related genes ( and three DAC genes: , , and ) and brain Aβ burden, cognition and regional brain volumes were analysed in two longitudinal cohorts of cognitively unimpaired older adults who were Aβ-positive or demonstrated ongoing Aβ accumulation. Linear regression models assessed cross-sectional and longitudinal outcomes within each cohort, followed by a meta-analysis. Pathway-based glymphatic genetic risk scores (G-GRS) were constructed to assess cumulative genetic impact. At the single-variant level, , , and showed significant associations with cognition, grey matter atrophy, and ventricular volume after correction for multiple testing. Variants in (rs10502478 and rs10164026) were associated with differences in cross-sectional PACC scores. Whilst rs45556134 within was associated with grey matter atrophy. Further, six variants (rs13079082 , rs8092794, rs17642885, rs7233779, rs78837792 and rs79500711 ) were associated with cross-sectional ventricular volumes. At the polygenic level, higher G-GRS were associated with lower grey matter volume, faster grey matter atrophy, larger ventricular volumes and lower cognitive composite scores. Variation within key glymphatic pathway genes is associated with early differences in cognition and neurodegeneration-related brain measures in cognitively unimpaired Aβ-positive older adults. These findings support a contributory role for glymphatic pathway dysfunction in early AD-related brain vulnerability and identify glymphatic pathway genetic risk as a potential marker for risk stratification. A limitation of this study is the absence of direct experimental measures of glymphatic clearance function, which will be required to confirm the functional impact of these genetic findings. - Source: PubMed
Publication date: 2026/05/06
Armstrong Ayeisha MilliganO'Brien Eleanor KFernandez Shane MDoré VincentBourgeat PierrickShishegar RositaMaruff PaulRowe Christopher CVillemagne Victor LInitiative The Alzheimer's Disease NeuroimagingGroup The Aibl ResearchPorter TenielleLaws Simon M - Cerebral edema is a severe complication following ischemic stroke. Recent studies have highlighted the crucial role of the glymphatic system (GS) in the clearance of water and macromolecules. GS dysfunction involving the disorders of AQP4 polarization may be crucial in the pathophysiology of cerebral edema. β-Hydroxybutyrate (BHB), the main component of the ketone body, has been shown to alleviate neurological deficits by restoring GS function in subarachnoid hemorrhage models and to reduce Aβ deposition in Alzheimer's disease models. In this study we investigated the effects of BHB on cerebral edema following ischemic stroke and its mechanisms. The mice were fed a ketogenic diet (KD) or a normal diet for 4 weeks before transient middle cerebral artery occlusion (MCAO). Alternatively, the mice received BHB (5 g·kg·d) or vehicle post-MCAO. By using brain section analysis, transcranial macroimaging, two-photon in vivo imaging and MRI, we demonstrated that both KD and BHB treatment significantly enhanced GS function under normal and MCAO conditions. BHB reduced cerebral edema and infarct volume post-MCAO. Notably, delayed BHB treatment initiated 10 h post-MCAO still improved GS function, but did not influence infarct volume. Furthermore, we revealed that BHB increased α1-syntrophin expression and H3K27ac levels in α1-syntrophin (Snta1) enhancer, restoring AQP4 polarization. In addition, BHB also reduced HDAC3 expression and elevated p300 expression. These results suggest that a KD and BHB treatment enhance GS function in mice and that BHB also mitigates brain edema after MCAO. The potentiation of GS function by BHB is likely mediated by the inhibition of HDAC3 activity and the increase in p300 activity, which upregulate α1-syntrophin expression and restore AQP4 polarization. - Source: PubMed
Publication date: 2026/01/14
Yu Ming-JiaXiong Rui-QiWu Jing-WenLi Yong-ChuanXie Jia-XinZhou Hai-PingYe Guan-YuChang YuanHuang Kai-BinPan Su-Yue - In case of unexplained sudden death, learned societies recommend performing genetic testing on post-mortem biological specimens to search for a potential hereditary genetic cause and implement, with a multidisciplinary team, screening and prevention measures for the deceased's relatives. The aim of this study was to assess the diagnostic contribution of a rigorous multidisciplinary approach (combining autopsy, toxicology, anatomopathology and genetics) in case of unexplained sudden death. - Source: PubMed
Publication date: 2025/10/15
Osouf JulienSchalk AudreySchaefer EliseCalmels NadègeGonzalez AngelaTortel Marie ClaireKintz PascalRaul Jean-SébastienSchulth-Bolard CarolineFarrugia Audrey - In clinical settings, patients with α-1-syntrophin point mutations are often associated with rare arrhythmias, including Long QT syndrome, Brugada syndrome, and sudden infant death syndrome. Previous studies on α-1-syntrophin have predominantly utilized nonhuman cardiomyocyte models. This study aims to elucidate the phenotype of α-1-syntrophin deficiency using human cardiomyocytes. Using CRISPR/Cas9 technology, we generated SNTA1 knockout (KO) embryonic stem cell line, which were subsequently differentiated into cardiomyocytes using 2D differentiation method. Genotype analysis identified an adenine (A) insertion in the second exon of SNTA1, resulting in a premature stop codon at the 149th amino acid position and truncation within the PDZ domain. SNTA1-deficient cardiomyocytes exhibited a shortened field potential duration (FPD) and slower conduction velocity, as detected by micro electrode array analysis. Immunofluorescence analysis further revealed disorganized distribution of Nav1.5 in SNTA1-deficient cardiomyocytes. SNTA1 is a susceptibility locus for arrhythmias and plays a critical role as an essential auxiliary protein in the proper localization of Nav1.5 in human cardiomyocytes. - Source: PubMed
Publication date: 2025/08/20
Dong TaoZhao YanZhang MengLang Wei-YaLiu Dan-YangZhang Ke-ShuangWang Yue-JingLi LinLian JieYao Hong-BoZhang Hai-YanJin Hai-FengLu TongShen LeiYue Li-LingLin Yan - cAMP influences multiple aspects of cardiac biology, including the regulation of contraction, relaxation, and overall stress responses. The functional outcomes of cAMP are driven by the spatial arrangement of enzymes that produce and degrade cAMP (adenylyl cyclase [AC] and phosphodiesterase, respectively), together with the downstream targets of cAMP. We performed proximity-dependent biotin identification (BioID) of near-neighbor interactions proteomics in cardiomyocytes to generate proximity maps for three cardiac AC isoforms. Processing and trafficking functions were the most common gene ontology terms for ACs, with AC5 and AC6 generating unique proximal protein sets compared to AC9. AC5/6 proximal proteins showed significant localization at the endo/sarcoplasmic reticulum with roles in calcium handling, whereas those near AC9 were more abundant at the plasma membrane. Upon treatment with the hypertrophic stimulus norepinephrine, only a few calcium handling proteins were differentially labeled for AC5/6, but not AC9. Endogenous AC activity copurified with vesicle transport, signaling, and muscle contraction proteins that were identified by BioID and/or pulldown of FLAG-tagged AC (FLAG-mass spectrometry) in cardiomyocytes, including ryanodine receptor 2, ATP2A2 (sarco/endoplasmic reticulum Ca-ATPase 2), epidermal growth factor receptor, syntrophin alpha 1, and vesicle-associated membrane protein 2. Finally, overlapping BioID and FLAG-mass spectrometry datasets suggested heterodimerization of AC5 and AC6, while super-resolution electron microscopy spatial mapping validated homodimerization and heterodimerization of these AC isoforms on the plasma membrane. Overall, our comprehensive network analysis has identified new binding partners and shed light on the spatial and functional significance of AC-containing macromolecular complexes in heart. - Source: PubMed
Publication date: 2025/07/31
Park TaeyeopLi YongArora NehaGarza-Carbajal AnibalColwill KarenWong Cassandra JZhou YongDessauer Carmen W