PRKAG2 Antibody

1. molecular screening for PRKAG2 mutations should be considered in patients who exhibit cardiac hypertrophy coexisting with ventricular pre-excitation. CMR offers promising advantages for evaluation of PRKAG2 cardiomyopathy. PMID: 28546535
2. PRKAG2-mutated iPSC-CMs displayed functional and structural abnormalities, which were abolished by correcting the mutation in the patient's iPSCs using CRISPR technology. PMID: 28917552
3. gamma2 AMPK activation downregulates fundamental sinoatrial cell pacemaker mechanisms to lower heart rate, including sarcolemmal hyperpolarization-activated current (I f) and ryanodine receptor-derived diastolic local subsarcolemmal Ca(2+) release. In contrast, loss of gamma2 AMPK induces a reciprocal phenotype of increased heart rate, and prevents the adaptive intrinsic bradycardia of endurance training. PMID: 29097735
4. Case Report: PRKAG2 missense mutation causing glycogen storage disease and severe biventricular hypertrophy and high-grade atrio-ventricular block. PMID: 27496753
5. We highlight the potential for patients with PRKAG2 mutations. PMID: 28801758
6. This study of patients with PRKAG2 mutations provides a more comprehensive view of the natural history of this disease and demonstrates a high risk of cardiac complications. Early recognition of this disease appears important to allow an appropriate management. PMID: 28431061
7. A novel missense genetic variant of unknown significance (GVUS) was detected in the PRKAG2 gene (c.869A>T, p.K290I). This novel GVUS has not been identified in any global population databases. PMID: 28690312
8. As in patients with PRKAG2 cardiomyopathy, iPS cell and mouse models are protected from cardiac fibrosis, and we define a crosstalk between AMPK and post-transcriptional regulation of TGFbeta isoform signaling that has implications in fibrotic forms of cardiomyopathy. PMID: 28009297
9. Identify a novel, de novo PRKAG2 mutation (K475E) in the cystathionine beta-synthase 3 repeat, a region critical for AMP binding, which affects AMP-activated protein kinase activity, activates cell growth pathways, and results in cardiac hypertrophy, which can be reversed with rapamycin. PMID: 28550180
10. PRKAG2 polymorphism maybe important factor treating hypertensive patients with hydrochlorothiazide. PMID: 27381900
11. Data suggest different gamma-isoforms in AMPK can have different effects on enzyme activation; here, activation of AMPK by compound 991 is greater if AMPK contains PRKAG2 versus PRKAG1 or PRKAG3. PMID: 28302767
12. mice with chronic AMPK activation, resulting from mutation of the AMPK gamma2 subunit, exhibit ghrelin signaling-dependent hyperphagia, obesity, and impaired pancreatic islet insulin secretion. Humans bearing the homologous mutation manifest a congruent phenotype. PMID: 27133129
13. PRKAG2 cardiac syndrome may present with eccentric distribution of LVH, involving focal mid-infero-lateral pattern in the early disease stage, and more diffuse pattern but focusing on interventricular septum in advanced cases. PMID: 26496977
14. Overexpression of G100S mutation in PRKAG2 causes Wolff-Parkinson-White syndrome in transgenic zebrafish. PMID: 23992123
15. Its mutation causes AMPK signaling abnormality which leads to cardiac syndrome. PMID: 23778007
16. The PRKAG2 autosomal dominant cardiac syndrome may be commonly characterized by Left Ventricular Hypertrophy, an accessory pathway, and progression to conduction disease requiring implantation of a pacemaker. PMID: 23810891
17. Data indicate that except AMPK-alpha1, expressions of the other five AMPK subunits -alpha2, -beta1, -beta2, -gamma1 and -gamma2 are significantly higher in ovarian carcinomas. PMID: 22897928
18. Single nucleotide polymorphisms in PRKAG2 is associated with drug response in breast cancer. PMID: 23034890
19. The authors found that the gene encoding the gamma2 subunit of AMP-activated protein kinase (AMPK) strongly correlated with Zaire Ebolavirus transduction in the tumor cell panel. PMID: 23115293
20. found a significant association between the -26C/T polymorphism and cognitive impairment. Moreover, this polymorphism was also related to the presence of diabetes. PMID: 21813245
21. The mutation in the PRKAG2 gene was identified as responsible for the familial form of WPW syndrome in this Chinese family. PMID: 20381067
22. These two individuals may be considered to suffer from a combination of both a classical hypertrophic cardiomyopathy (due to the two mutations in MYBPC3) and a glycogen storage cardiomyopathy (due to the mutation in PRKAG2). PMID: 21409595
23. no mutations were detected within the coding region of PRKAG2 in Wolff-Parkinson-White syndrome patients PMID: 20561859
24. Newly identified polymorphisms (amino acid substitutions) are likely associated with cardiac disease in type 2 diabetic patients. PMID: 20022652
25. This protein, transfected into a transgenic mouse, activates and mediates cardiac hypertrphic signaling pathways. PMID: 20005292
26. PRKAG2 R302Q mutant induces AMPK activation and increases glycogen content in cardiomyocytes. PMID: 20031621
27. Identified a novel mutation (Arg531Gly) in the PRKAG2 of AMP-activated protein kinase (AMPK) to be responsible for a syndrome associated with ventricular preexcitation and early onset of atrial fibrillation and conduction disease. PMID: 11748095
28. The role of the causative gene, gamma-2 regulatory subunit (PRKAG2) of AMP-activated protein kinase, in the regulation of the glucose metabolic pathway in muscle suggests that genetic defects in PRKAG2 may induce a cardiac glycogenosis syndrome. PMID: 12015471
29. Three of the mutations studied occur within the cystathionine beta-synthase (CBS) domains of gamma(2). Two of these mutations lead to a marked decrease in AMP dependence, whereas the third reduces AMP sensitivity. PMID: 12397075
30. unlike familial WPW syndrome, constitutional mutation of PRKAG2 is not commonly associated with sporadic WPW syndrome PMID: 12716108
31. mutations affecting PRKAG2 are likely to confer a specific alteration of AMPK function of particular importance in the myocardium PMID: 14519435
32. Transgenic mice expressing human mutant(TG(R302Q)) PRKAG2 gene with the cardiac-specific promoter alpha-myosin heavy chain have ventricular pre-excitation, prolonged QRS, excess cardiac glycogen and a distinct AV accessory pathway. PMID: 15611370
33. The glycogen-storage cardiomyopathy produced by LAMP2 or PRKAG2 mutations resembles hypertrophic cardiomyopathy but is distinguished by electrophysiological abnormalities PMID: 15673802
34. The AMP kinase disease is uncommon in HCM and is characterized by progressive conduction disease and cardiac hypertrophy and includes extracardiac manifestations such as a skeletal myopathy. PMID: 15766830
35. Biochemical characterization of the recombinant R531Q mutant protein showed >100-fold reduction of binding affinities for the regulatory nucleotides AMP and ATP but an enhanced basal activity and increased phosphorylation of the alpha -subunit. PMID: 15877279
36. The PRKAG2 N488I mutation causes inappropriate AMPK activation, which leads to glycogen accumulation and heart conduction system disease when transfected into mice. PMID: 16275868
37. The study describe a 38-year-old man with a new heterozygous PRKAG2 mutation (Ser548Pro) manifesting by hypertrophic cardiomyopathy, severe conduction system abnormalities, and skeletal muscle glycogenosis. PMID: 16487706
38. AMP-activated protein kinase is regulated by a pseudosubstrate sequence on the gamma subunit. PMID: 17255938
39. Altered AMPK gamma 2 subunit activity under normal energetic status remodels the cardiac metabolic network to cause a unique form of glycogen storage disease in transgenic mice. PMID: 17431505
40. four members of the same family with a very similar ECG pattern characterized by conduction defects and mutations in PRKAG2 gene PMID: 17483151
41. Human mutations which disrupt the nucleotide-binding affinity of the gamma2 subunit lead to loss of inhibition by ATP and inappropriate activate AMP-Kinase under resting conditions. PMID: 17990392
42. Gene analysis identified a R302Q mutation of the gamma2 subunit producing AMP protein kinase, coded by the gene PRKAG2, and associated with a heart conduction defect. PMID: 18033003
43. data provide insight into mechanisms of cardiac PRKAG2 disease and suggest that glycogen-storage cardiomyopathy can be modulated by lowering glycogen content in the heart PMID: 18158359
44. REVIEW. Compelling evidence exists that Prkag2 mutations cause a "gain of function" in basal AMPK activity, leading to excessive cellular glucose uptake and pathological glycogen storage in the heart, resulting in a potentially fatal cardiac phenotype. PMID: 18195183
45. Mutational analysis of PRKAG2, LAMP2, and NKX2-5 genes in a cohort of 125 patients with accessory atrioventricular connection. PMID: 19533775
46. Preexcitation associated with the R302Q mutation in PRKAG2 is associated with Mahaim fibers. PMID: 19808419

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HGNC: 9386

OMIM: 194200

KEGG: hsa:51422

STRING: 9606.ENSP00000287878

UniGene: Hs.647072