Affinage

SNTA1

Alpha-1-syntrophin · UniProt Q13424

Length
505 aa
Mass
53.9 kDa
Annotated
2026-06-10
59 papers in source corpus 18 papers cited in narrative 18 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 6/6 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

SNTA1 (α1-syntrophin) is a membrane-associated scaffold/adaptor that organizes ion channel and signaling complexes at the cell surface and underlies cardiac, neural, and migratory phenotypes (PMID:18591664, PMID:35762211, PMID:36990365). In cardiomyocytes it assembles a macromolecular complex containing the cardiac sodium channel SCN5A (NaV1.5), neuronal nitric oxide synthase (nNOS), the nNOS inhibitor PMCA4b, and caveolin-3, in which PMCA4b holds nNOS tonically inhibited so that SCN5A is not S-nitrosylated (PMID:18591664, PMID:23541953). Loss-of-function and disease-associated SNTA1 missense mutations selectively disrupt PMCA4b binding, releasing nNOS, increasing S-nitrosylation of SCN5A, and producing a gain-of-function increase in peak and late sodium current; this nNOS-dependent mechanism underlies long-QT-type dysfunction and sudden-death/SIDS-associated variants, and SNTA1 mutations can act jointly with SCN5A mutations in a digenic manner (PMID:18591664, PMID:20009079, PMID:23376825). Beyond regulating channel gating, SNTA1 is required for proper membrane localization and organization of the NaV1.5–Kir2.1 channelosome and for normal cardiomyocyte calcium homeostasis, conduction, and contractility, and its re-expression rescues channelosome function in dystrophin-deficient cardiomyocytes (PMID:35762211, PMID:35773684, PMID:40835660). In astrocytes SNTA1 anchors AQP4 at perivascular endfeet to support glymphatic CSF/interstitial-fluid exchange and amyloid-β clearance (PMID:36990365, PMID:30561329). In non-cardiac cells SNTA1 acts as a phosphorylation-dependent signaling scaffold, recruiting P66shc and Grb2 to activate Rac1 (by displacing Sos1 from Grb2) and RhoA, driving ROS production and migration through an actin- and tyrosine-phosphorylation-dependent mechanism (PMID:24434436, PMID:27048259, PMID:35273919).

Mechanistic history

Synthesis pass · year-by-year structured walk · 11 steps
  1. 2008 High

    Established the core cardiac mechanism: SNTA1 scaffolds SCN5A with nNOS and PMCA4b, and a disease mutation disrupting PMCA4b binding releases nNOS to S-nitrosylate the channel and increase sodium current, explaining how a non-channel scaffold causes an arrhythmia phenotype.

    Evidence GST-fusion pulldown reconstitution plus patch-clamp and nNOS pharmacology in HEK cells and cardiomyocytes

    PMID:18591664 PMID:19684871

    Open questions at the time
    • No structural basis for PMCA4b/nNOS recruitment
    • In vivo arrhythmia consequence not directly demonstrated
  2. 2009 High

    Generalized the nNOS-dependent gain-of-function mechanism across multiple SIDS-associated SNTA1 mutations, showing reversibility by nNOS inhibition and confirming it is not idiosyncratic to one variant.

    Evidence Heterologous reconstitution of SCN5A/nNOS/PMCA4b complex, patch-clamp, nNOS inhibitor across six mutations

    PMID:20009079

    Open questions at the time
    • Genotype-phenotype causality in patients not established
    • Why some mutations are functional and others silent unexplained
  3. 2013 High

    Extended the regulatory complex to include caveolin-3 and demonstrated digenic interaction with SCN5A mutations, embedding SNTA1 in a caveolar S-nitrosylation pathway and showing combinatorial disease risk.

    Evidence Reconstitution with Cav3, biotin-switch S-nitrosylation assay, patch-clamp, cardiomyocyte action potentials

    PMID:23376825 PMID:23541953

    Open questions at the time
    • Stoichiometry and assembly order of the caveolar complex unknown
    • Native co-residence of all components not shown
  4. 2011 Medium

    Demonstrated intragenic rescue, showing the gain-of-function phenotype is a tunable property of the SNTA1 protein where a second variant can normalize channel current.

    Evidence Engineered intragenic variant co-expression with SCN5A and patch-clamp

    PMID:24319568

    Open questions at the time
    • Single method, no complex reconstitution
    • Molecular basis of rescue not defined
  5. 2014 Medium

    Defined a distinct, non-cardiac role for SNTA1 as a signaling scaffold that recruits P66shc and Grb2 to activate Rac1 and drive migration, broadening SNTA1 function beyond ion-channel anchoring.

    Evidence Reciprocal Co-IP, knockdown/overexpression, Rac1 activation assay, migration and ROS assays in breast cancer cells

    PMID:24434436

    Open questions at the time
    • Direct vs indirect SNTA1-P66shc binding not resolved
    • Single cell-context (breast cancer)
  6. 2016 Medium

    Linked SNTA1 signaling to the actin cytoskeleton, showing actin integrity sustains SNTA1 tyrosine phosphorylation that is required for the SNTA1–Rac1 interaction and downstream ROS, migration, and survival.

    Evidence Actin-depolymerizing drugs, phospho-western, Co-IP, Rac1/migration/ROS/apoptosis assays

    PMID:27048259

    Open questions at the time
    • Kinase phosphorylating SNTA1 not identified here
    • Mechanism connecting actin to phosphorylation unclear
  7. 2022 High

    Showed SNTA1 is not merely a gating regulator but is required to localize the NaV1.5–Kir2.1 channelosome to the membrane and to maintain calcium homeostasis, with single-gene re-expression rescuing dystrophin-deficient cardiomyocytes.

    Evidence iPSC-CMs from DMD patients, confocal localization, patch-clamp, optical mapping, contractility; CRISPR KO in ESC-CMs with calcium imaging and ranolazine rescue

    PMID:35762211 PMID:35773684

    Open questions at the time
    • Mechanism of SNTA1-dependent membrane trafficking not defined
    • Link between channelosome and calcium handling phenotypes incompletely connected
  8. 2022 Medium

    Identified a parallel RhoA arm of SNTA1/p66Shc signaling and reinforced the actin-dependence of these interactions, indicating SNTA1 coordinates multiple Rho-family outputs.

    Evidence Co-IP, RhoA activation assay, actin depolymerization, proliferation/migration/ROS assays in breast cancer cells

    PMID:35273919

    Open questions at the time
    • How SNTA1 selects Rac1 vs RhoA output unknown
    • Single lab and cell type
  9. 2024 High

    Established SNTA1 as the anchor that places AQP4 at perivascular astrocyte endfeet, mechanistically connecting SNTA1 to glymphatic fluid transport and amyloid-β clearance.

    Evidence Snta1 KO mice with CSF tracer imaging, AQP4 immunofluorescence, and Aβ quantification; corroborated by cross-lab meta-analysis of KO glymphatic phenotype

    PMID:30561329 PMID:36990365

    Open questions at the time
    • Molecular interface of SNTA1-AQP4 anchoring not resolved
    • Relevance to human neurodegeneration not directly tested
  10. 2024 Medium

    Connected the SNTA1/Rac1 signaling axis to a disease-relevant stimulus by showing amyloid-β drives MKK6-dependent SNTA1 phosphorylation that creates a Rac1 binding site, producing ROS and cell-cycle arrest in neuronal cells.

    Evidence Western blot, IP, Rac1 activation, ROS, and cell-cycle assays in Aβ-treated IMR32 cells

    PMID:39543939

    Open questions at the time
    • Direct MKK6 phosphorylation of SNTA1 not biochemically confirmed
    • Single cell line
  11. 2024 Low

    Provided ancillary regulatory and contextual findings (miR-206 targeting of SNTA1 in NMJ AChR clustering; SNTA1 negative regulation of PI3K/AKT in drug-induced arrhythmia; tyrosine Y215/229 phospho-sites for migration), expanding SNTA1's regulatory inputs.

    Evidence miR-206 transfection/AChR clustering in C2C12; siRNA/overexpression with proteomics and patch-clamp; phospho-dead mutant migration assays

    PMID:33515365 PMID:39437515 PMID:39575567

    Open questions at the time
    • Indirect, single-lab observations without rescue or reconstitution
    • Mechanistic links to core SNTA1 functions not established

Open questions

Synthesis pass · forward-looking unresolved questions
  • How SNTA1 structurally distinguishes and assembles its distinct complexes — the cardiac SCN5A/nNOS/PMCA4b/Cav3 channelosome, the astrocytic AQP4 anchor, and the migratory P66shc/Grb2/Rac1/RhoA scaffold — and what governs context-specific partner selection remains unresolved.
  • No structural model of SNTA1 in any complex
  • Determinants of tissue-specific partner choice unknown
  • In vivo cardiac arrhythmia mechanism not directly demonstrated for human mutations

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0060090 molecular adaptor activity 4 GO:0098772 molecular function regulator activity 3 GO:0008092 cytoskeletal protein binding 2
Localization
GO:0005886 plasma membrane 3
Pathway
R-HSA-162582 Signal Transduction 3 R-HSA-397014 Muscle contraction 3 R-HSA-382551 Transport of small molecules 2
Partners
AQP4CAV3GRB2NNOSP66SHCPMCA4BRAC1SCN5A
Complex memberships
NaV1.5-Kir2.1 channelosomeSCN5A-nNOS-PMCA4b-caveolin-3 channelosomeSNTA1-P66shc-Grb2 signaling complex

Evidence

Reading pass · 18 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2008 SNTA1 (α1-syntrophin) forms a macromolecular complex with neuronal nitric oxide synthase (nNOS), the nNOS inhibitor PMCA4b, and the cardiac sodium channel SCN5A, as demonstrated by GST-fusion pulldown using the C-terminus of SCN5A. The LQTS-associated missense mutation A390V-SNTA1 selectively disrupts binding of PMCA4b to this complex, releasing nNOS inhibition, causing increased S-nitrosylation of SCN5A, and increasing peak and late sodium current in heterologous cells and cardiac myocytes. GST-fusion protein pulldown, heterologous co-expression in HEK cells, whole-cell patch-clamp, nNOS inhibitor pharmacology, expression in cardiac myocytes Proceedings of the National Academy of Sciences of the United States of America High 18591664
2008 The SNTA1 missense mutation A257G increases peak sodium current through Nav1.5 and causes a ~9.4 mV leftward shift in steady-state activation in both HEK-293 cells stably expressing hNav1.5 and neonatal rat cardiomyocytes, constituting a gain-of-function on the sodium channel consistent with LQT3-type dysfunction. Whole-cell patch-clamp electrophysiology in HEK-293 cells and neonatal rat cardiomyocytes transiently transfected with wild-type or mutant SNTA1 Circulation. Arrhythmia and electrophysiology Medium 19684871
2009 Six SIDS-associated SNTA1 missense mutations (G54R, P56S, T262P, S287R, T372M, G460S) were identified; three of them (S287R, T372M, G460S), when co-expressed heterologously with SCN5A, nNOS, and PMCA4b in HEK293 cells, caused a significant 1.4–1.5-fold increase in peak INa and 2.3–2.7-fold increase in late INa that was reversed by an nNOS inhibitor, confirming that SNTA1 mutations increase sodium current through an nNOS-dependent mechanism. Heterologous co-expression in HEK293 cells with SCN5A, nNOS, and PMCA4b; whole-cell patch-clamp; nNOS inhibitor pharmacology Circulation. Arrhythmia and electrophysiology High 20009079
2013 SNTA1 (α1-syntrophin) is a component of the caveolar SCN5A macromolecular complex together with nNOS and caveolin-3 (Cav3). The LQT9 mutation Cav3-F97C, in this complex, increases late INa and S-nitrosylation of SCN5A in an nNOS-dependent manner, confirming that SNTA1 participates in the nNOS-mediated S-nitrosylation regulatory pathway for the cardiac sodium channel. Heterologous co-expression of SCN5A, SNTA1, nNOS, and Cav3 in HEK-293 cells; whole-cell patch-clamp; biotin-switch assay for S-nitrosylation; nNOS inhibitor; adult rat cardiomyocyte expression with action potential recording Journal of molecular and cellular cardiology High 23541953
2013 Digenic mutations R800L-SCN5A and A261V-SNTA1 together cause a 5.6-fold increase in the late INa/peak INa ratio in HEK293 cells co-transfected with nNOS and PMCA4b, whereas either single mutation alone increases late INa only 2–3-fold. The combined gain-of-function was blocked by an nNOS inhibitor, demonstrating that SNTA1 and SCN5A mutations act jointly through the nNOS-dependent pathway. Heterologous co-expression in HEK293 cells with nNOS and PMCA4b; whole-cell patch-clamp; nNOS inhibitor pharmacology American journal of physiology. Heart and circulatory physiology Medium 23376825
2011 The SNTA1 intragenic polymorphism p.P74L reverses the pathogenic gain-of-function increase in peak INa and window current produced by the LQTS mutation p.A257G when both variants are present in the same SNTA1 protein, demonstrating intragenic rescue of sodium channel dysfunction. Heterologous co-expression of SCN5A with SNTA1 variants in HEK293 cells; whole-cell patch-clamp Cardiogenetics Medium 24319568
2014 SNTA1 forms a novel signaling complex with P66shc and Grb2 in breast cancer cells. Overexpression of SNTA1 and P66shc activates Rac1 by displacing Sos1 from Grb2, shifting Sos1 to complex with Eps8 and E3b1, leading to increased ROS production and cell migration. Depletion of SNTA1 or P66shc reduces Rac1 activation, ROS, and migration. Co-immunoprecipitation, siRNA/shRNA knockdown, Rac1 activation assay (GST-PAK pulldown), in vitro wound healing and migration assays, ROS generation assay British journal of cancer Medium 24434436
2016 Actin depolymerization (by cytochalasin D or latrunculin A) reduces tyrosine phosphorylation of SNTA1 and disrupts SNTA1–Rac1 interaction, thereby reducing Rac1 activation. This loss of SNTA1 phosphorylation and Rac1 activity leads to decreased ROS production, decreased cell migration, and increased apoptosis in breast cancer cells. Actin-depolymerizing drug treatment, western blot for tyrosine phosphorylation, co-immunoprecipitation of SNTA1-Rac1, Rac1 activation assay, migration assay, ROS assay, apoptosis assay Apoptosis : an international journal on programmed cell death Medium 27048259
2022 In iPSC-derived cardiomyocytes from Duchenne Muscular Dystrophy (DMD) patients, loss of dystrophin reduces membrane-localized NaV1.5 and Kir2.1 protein levels, decreasing INa and IK1 currents. Transfection of α1-syntrophin (SNTA1) alone into DMD iPSC-CMs restored channelosome function, INa and IK1 densities, action potential profiles, impulse conduction, contractility, and prevented reentrant arrhythmias in monolayers, demonstrating that SNTA1 is essential for proper membrane localization of the NaV1.5-Kir2.1 channelosome. iPSC-CM generation from DMD patients, confocal microscopy of membrane protein localization, patch-clamp electrophysiology, non-viral piggyBac SNTA1 expression, optical mapping, contractility assays eLife High 35762211
2022 CRISPR/Cas9 knockout of SNTA1 in human embryonic stem cell-derived cardiomyocytes causes hypertrophic phenotype, reduced cardiac contractility, weakened calcium transients, and lower sarcoplasmic reticulum calcium levels, indicating SNTA1 is required for normal calcium homeostasis in human cardiomyocytes. Early treatment with ranolazine (late INa blocker) partially rescued calcium handling. CRISPR-Cas9 knockout in H9 ESCs, differentiation to cardiomyocytes, calcium imaging, contractility assay, ranolazine pharmacology Stem cell research & therapy Medium 35773684
2025 SNTA1 knockout in human embryonic stem cell-derived cardiomyocytes results in shorter field potential duration and slower conduction velocity as measured by microelectrode array, and immunofluorescence shows disorganized distribution of Nav1.5, establishing SNTA1 as essential for proper subcellular localization of Nav1.5 and normal electrical conduction in human cardiomyocytes. CRISPR-Cas9 knockout in human ESCs, 2D cardiomyocyte differentiation, microelectrode array analysis, immunofluorescence for Nav1.5 localization Scientific reports Medium 40835660
2022 SNTA1 forms a complex with p66Shc and RhoA in breast cancer cells. Overexpression of SNTA1 and p66Shc activates RhoA, increases ROS, promotes proliferation and migration. Actin depolymerization (cytochalasin D) disrupts SNTA1–p66Shc interaction and impairs F-actin organization, RhoA activation, ROS generation, proliferation, and migration. Co-immunoprecipitation, immunofluorescence, RhoA activation assay, actin depolymerization, MTT proliferation assay, transwell migration assay, wound healing assay, Amplex red ROS assay Frontiers in oncology Medium 35273919
2024 In neuroblastoma cells (IMR32), amyloid-β accumulation increases expression and activation of SNTA1 and MKK6. Activated MKK6 phosphorylates SNTA1, creating a binding site for Rac1, leading to Rac1 activation, ROS production, and G2/M cell cycle arrest. Western blot, immunoprecipitation, Rac1 activation assay, ROS assay, cell cycle analysis in IMR32 neuroblastoma cells treated with Aβ The European journal of neuroscience Medium 39543939
2024 SNTA1 anchors AQP4 to astrocytic endfeet perivascularly. In Snta1 knockout mice, perivascular AQP4 localization is lost, CSF tracer influx and interstitial fluid efflux are slowed, and amyloid-β levels are increased. Snta1 KO had a more pronounced effect on Aβ plaque deposition than global Aqp4 KO, suggesting perivascular AQP4 localization is especially critical for Aβ clearance. Snta1 KO mouse model, CSF tracer injection and fluorescence imaging, AQP4 immunofluorescence, amyloid-β ELISA/plaque quantification Neurobiology of disease Medium 36990365
2018 Snta1 knockout mice, which lack perivascular AQP4 localization, show significantly decreased CSF tracer influx compared to wild-type controls, establishing that SNTA1-dependent perivascular localization of AQP4 is required for normal glymphatic transport. Meta-analysis of five independent labs using Snta1 KO mice, CSF tracer injection and fluorescence imaging eLife High 30561329
2024 SNTA1 silencing in cardiomyocytes exposed to diacetylmorphine activates the PI3K/AKT signaling pathway and worsens potassium channel disruption and mitochondrial dysfunction, whereas SNTA1 overexpression partially suppresses PI3K/AKT activation and ion channel abnormalities, indicating SNTA1 negatively regulates the PI3K/AKT pathway in the context of drug-induced arrhythmia. SNTA1 siRNA knockdown and overexpression in rat cardiomyocytes, tandem mass tag proteomics, western blot for PI3K/AKT pathway, mitochondrial function assays (JC-1, Seahorse), patch-clamp for potassium channels Ecotoxicology and environmental safety Low 39437515
2021 SNTA1 tyrosine phosphorylation (at Y215/229) is required for jasplakinolide-sensitive cell migration in MDA-MB-231 breast cancer cells; jasplakinolide treatment decreases SNTA1 protein levels and tyrosine phosphorylation, and a Y215/229 phospho-dead double mutant SNTA1 phenocopies jasplakinolide-mediated inhibition of migration. Jasplakinolide treatment, western blot for SNTA1 phosphorylation, transfection of WT and phospho-mutant SNTA1, Boyden chamber migration assay The protein journal Low 33515365
2024 miR-206-3p targets SNTA1 mRNA in denervated muscle; co-expression of miR-206 with Snta1 in C2C12 myoblasts significantly reduced SNTA1 protein levels, and overexpression of miR-206 in myotubes disrupted agrin-induced AChR clustering, indicating SNTA1 is a functional miR-206 target required for acetylcholine receptor clustering at the NMJ. miR-206 transfection in C2C12 myoblasts/myotubes, western blot for SNTA1 protein, AChR clustering assay Journal of cell science Low 39575567

Source papers

Stage 0 corpus · 59 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2018 Aquaporin-4-dependent glymphatic solute transport in the rodent brain. eLife 577 30561329
2020 An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome. Circulation 294 31983240
2008 Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex. Proceedings of the National Academy of Sciences of the United States of America 241 18591664
2022 Loss of perivascular aquaporin-4 localization impairs glymphatic exchange and promotes amyloid β plaque formation in mice. Alzheimer's research & therapy 193 35473943
2006 Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity. Molecular genetics and metabolism 143 16427346
2008 alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption. Circulation. Arrhythmia and electrophysiology 96 19684871
2013 Caveolin-3 suppresses late sodium current by inhibiting nNOS-dependent S-nitrosylation of SCN5A. Journal of molecular and cellular cardiology 69 23541953
2009 Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current. Circulation. Arrhythmia and electrophysiology 62 20009079
2011 Screening for copy number variation in genes associated with the long QT syndrome: clinical relevance. Journal of the American College of Cardiology 60 21185499
2023 The effect of aquaporin-4 mis-localization on Aβ deposition in mice. Neurobiology of disease 58 36990365
2005 Potential markers of tongue tumor progression selected by cDNA microarray. International journal of immunopathology and pharmacology 56 16164832
2010 Prevalence and spectrum of large deletions or duplications in the major long QT syndrome-susceptibility genes and implications for long QT syndrome genetic testing. The American journal of cardiology 48 20920651
2012 Syntrophin proteins as Santa Claus: role(s) in cell signal transduction. Cellular and molecular life sciences : CMLS 45 23263165
2015 Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome. PloS one 43 26230511
2013 Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genetic testing and molecular biomarkers 39 23631430
2011 Genetics of sudden cardiac death syndromes. Current opinion in cardiology 38 21430528
2024 Role of aquaporin-4 polarization in extracellular solute clearance. Fluids and barriers of the CNS 35 38532513
2014 Role of SNTA1 in Rac1 activation, modulation of ROS generation, and migratory potential of human breast cancer cells. British journal of cancer 31 24434436
2012 Copy number variation in patients with cervical artery dissection. European journal of human genetics : EJHG 29 22617347
2022 β-Hydroxybutyrate Attenuates Painful Diabetic Neuropathy via Restoration of the Aquaporin-4 Polarity in the Spinal Glymphatic System. Frontiers in neuroscience 27 35898407
2010 LQTS gene LOVD database. Human mutation 25 20809527
2022 SNTA1 gene rescues ion channel function and is antiarrhythmic in cardiomyocytes derived from induced pluripotent stem cells from muscular dystrophy patients. eLife 23 35762211
2019 Transcriptional profiling of corneal stromal cells derived from patients with keratoconus. Scientific reports 23 31467338
2015 The role of the sodium current complex in a nonreferred nationwide cohort of sudden infant death syndrome. Heart rhythm 22 25757662
2018 Postmortem Genetic Testing for Cardiac Ion Channelopathies in Stillbirths. Circulation. Genomic and precision medicine 21 29874177
2016 Actin depolymerization mediated loss of SNTA1 phosphorylation and Rac1 activity has implications on ROS production, cell migration and apoptosis. Apoptosis : an international journal on programmed cell death 20 27048259
2015 Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly. Neuromolecular medicine 20 26537360
2011 Myostatin inactivation induces a similar muscle molecular signature in double-muscled cattle as in mice. Animal : an international journal of animal bioscience 20 22440772
2020 Quantile-Dependent Expressivity and Gene-Lifestyle Interactions Involving High-Density Lipoprotein Cholesterol. Lifestyle genomics 19 33296900
2024 β-hydroxybutyrate alleviates neurological deficits by restoring glymphatic and inflammation after subarachnoid hemorrhage in mice. Experimental neurology 17 38763355
2013 Digenic inheritance novel mutations in SCN5a and SNTA1 increase late I(Na) contributing to LQT syndrome. American journal of physiology. Heart and circulatory physiology 15 23376825
2010 Alpha-1-syntrophin protein is differentially expressed in human cancers. Biomarkers : biochemical indicators of exposure, response, and susceptibility to chemicals 14 21091386
2021 Jasplakinolide Attenuates Cell Migration by Impeding Alpha-1-syntrophin Protein Phosphorylation in Breast Cancer Cells. The protein journal 13 33515365
2025 Aquaporin 4 and its isoforms regulation ameliorate AQP4 Mis-localization-induced glymphatic dysfunction in ischemic stroke. Journal of advanced research 12 40403843
2022 Comparative transcriptomic analysis reveals region-specific expression patterns in different beef cuts. BMC genomics 12 35596128
2023 Spontaneous cervical artery dissection: is it really a connective tissue disease? A comprehensive review. Frontiers in neurology 9 37885478
2023 Mechanism of anti-AD action of OAB-14 by enhancing the function of glymphatic system. Neurochemistry international 9 39491236
2020 Jervell and Lange-Nielsen syndrome with novel KCNQ1 and additional gene mutations. Human genome variation 7 33082985
2022 Glomerular proteomic profiling of kidney biopsies with hypertensive nephropathy reveals a signature of disease progression. Hypertension research : official journal of the Japanese Society of Hypertension 6 36229534
2013 An interstitial 20q11.21 microdeletion causing mild intellectual disability and facial dysmorphisms. Case reports in genetics 6 23476833
2011 LQTS-associated mutation A257G in α1-syntrophin interacts with the intragenic variant P74L to modify its biophysical phenotype. Cardiogenetics 6 24319568
2024 Regulation of miR-206 in denervated and dystrophic muscles, and its effect on acetylcholine receptor clustering. Journal of cell science 5 39575567
2022 SNTA1-deficient human cardiomyocytes demonstrate hypertrophic phenotype and calcium handling disorder. Stem cell research & therapy 5 35773684
2021 The establishment of a homozygous SNTA1 knockout human embryonic stem cell line (WAe009-A-50) using the CRISPR/Cas9 system. Stem cell research 5 33524674
2018 Functional consequences of genetic variation in sodium channel modifiers in early onset lone atrial fibrillation. Personalized medicine 5 29714131
2022 Actin Modulation Regulates the Alpha-1-Syntrophin/p66Shc Mediated Redox Signaling Contributing to the RhoA GTPase Protein Activation in Breast Cancer Cells. Frontiers in oncology 4 35273919
2022 Generation of two iPSC lines from long QT syndrome patients carrying SNTA1 variants. Stem cell research 3 36528013
2025 Trifluoperazine improves postoperative cognition by influencing astrocyte endfoot morphology and aquaporin-4 polarity. Molecular neurobiology 2 40425909
2024 Exploring novel natural compound-based therapies for Duchenne muscular dystrophy management: insights from network pharmacology, QSAR modeling, molecular dynamics, and free energy calculations. Frontiers in pharmacology 2 39415830
2025 The Proteomic Landscape of the Coronary Accessible Heart Cell Surfaceome. Proteomics 1 39790063
2025 Unmasking Long QT Syndrome in a Serviceman: Effects of Hypoglycemia and a Flight Duty Medical Examination. Military medicine 1 39821444
2024 Amyloid beta-activated alpha-1-syntrophin has ramifications on Rac1 activation, ROS production and neuronal cell death. The European journal of neuroscience 1 39543939
2023 From Death to Life/Back to the Future: Detailed Premorbid Clinical and Family History Can Save Lives and Address the Final Diagnosis in Sudden Unexplained Deaths With Negative Autopsy. Applied immunohistochemistry & molecular morphology : AIMM 1 37796154
2020 The proof is in the appendage: A case report of a fenestrated membrane overlying the left atrial appendage. Echocardiography (Mount Kisco, N.Y.) 1 33070394
2026 β-Hydroxybutyrate improves glymphatic system function and alleviates cerebral edema in mice after ischemic stroke. Acta pharmacologica Sinica 0 41535708
2026 Genetic variation in the glymphatic pathway predicts cognition and neurodegeneration in preclinical Alzheimer's disease. Research square 0 42147167
2025 SNTA1-deficient human cardiomyocytes show shorter field potential duration and slower conduction velocity. Scientific reports 0 40835660
2025 Genetic testing after sudden death with negative ancillary investigations: A French prospective study with multidisciplinary collaboration. Forensic science international. Genetics 0 41124747
2024 SNTA1 inhibits the PI3K/AKT signaling pathway leading to increased mitochondrial dysfunction and arrhythmia caused by diacetylmorphine. Ecotoxicology and environmental safety 0 39437515

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