| Overexpression of AMPKgamma2 increases AMPK signaling to augment human T cell metabolism and function. | Overexpression of AMPKγ2 increases AMPK signaling to augment human T cell metabolism and function.
Braverman EL, McQuaid MA, Schuler H, Qin M, Hani S, Hippen K, Monlish DA, Dobbs AK, Ramsey MJ, Kemp F, Wittmann C, Ramgopal A, Brown H, Blazar B, Byersdorfer CA., Free PMC Article | 02/7/2024 |
| Abnormal expression of PRKAG2-AS results in dysfunction of cardiomyocytes through regulating PRKAG2 transcription by interacting with PPARG. | Abnormal expression of PRKAG2-AS results in dysfunction of cardiomyocytes through regulating PRKAG2 transcription by interacting with PPARG.
Song XW, Su T, Li B, Huang YJ, He WX, Jiang LL, Li CJ, Huang SQ, Li SH, Guo ZF, Wu H, Zhang BL., Free PMC Article | 11/28/2023 |
| Biallelic PRKAG2 Truncating Variants Are Associated with Severe Neonatal Cardiomyopathies. | Biallelic PRKAG2 Truncating Variants Are Associated with Severe Neonatal Cardiomyopathies.
Janin A, Gouy E, Putoux A, Perouse-de-Monclos T, Chevalier P, Faucherre A, Mancilla Abaroa J, Jopling C, Collardeau Frachon S, Radojevic J, El Chehadeh S, Millat G. | 06/23/2023 |
| Left ventricular non-compaction cardiomyopathy associated with the PRKAG2 mutation. | Left ventricular non-compaction cardiomyopathy associated with the PRKAG2 mutation.
Zhang J, Han X, Lu Q, Feng Y, Ma A, Wang T., Free PMC Article | 10/15/2022 |
| Controversial molecular functions of CBS versus non-CBS domain variants of PRKAG2 in arrhythmia and cardiomyopathy: A case report and literature review. | Controversial molecular functions of CBS versus non-CBS domain variants of PRKAG2 in arrhythmia and cardiomyopathy: A case report and literature review.
Gong X, Yu P, Wu T, He Y, Zhou K, Hua Y, Lin S, Wang T, Huang H, Li Y., Free PMC Article | 09/10/2022 |
| Identification of the pathogenic effects of missense variants causing PRKAG2 cardiomyopathy. | Identification of the pathogenic effects of missense variants causing PRKAG2 cardiomyopathy.
Komurcu-Bayrak E, Kalkan MA, Coban N, Ozsait-Selcuk B, Bayrak F. | 07/30/2022 |
| Hypertrophic cardiomyopathy phenocopy (PRKAG2 syndrome) due to p.Arg302Gln mutation.", trans "Fenocopia de miocardiopatia hipertrofica (sindrome de PRKAG2) debido a la mutacion P.Arg302.Gln. | Hypertrophic cardiomyopathy phenocopy (PRKAG2 syndrome) due to p.Arg302Gln mutation.
Rodríguez Ortuño J, Peña Peña ML, López Haldón JE. | 04/23/2022 |
| CARS senses cysteine deprivation to activate AMPK for cell survival. | CARS senses cysteine deprivation to activate AMPK for cell survival.
Yuan M, Yan R, Zhang Y, Qiu Y, Jiang Z, Liu H, Wang Y, Sun L, Zhang H, Gao P., Free PMC Article | 12/18/2021 |
| Familial Atrial Enlargement, Conduction Disorder and Symmetric Cardiac Hypertrophy Are Early Signs of PRKAG2 R302Q. | Familial Atrial Enlargement, Conduction Disorder and Symmetric Cardiac Hypertrophy Are Early Signs of PRKAG2 R302Q.
Hu J, Tang B, Wang J, Huang K, Wang Y, Lu S, Gowreesunkur HB, Wang Y, Wu D, Mayala HA, Wang ZH. | 05/22/2021 |
| PRKAG2 Gene Expression Is Elevated and its Protein Levels Are Associated with Increased Amyloid-beta Accumulation in the Alzheimer's Disease Brain. | PRKAG2 Gene Expression Is Elevated and its Protein Levels Are Associated with Increased Amyloid-β Accumulation in the Alzheimer's Disease Brain.
Bharadwaj P, Martins RN., Free PMC Article | 05/15/2021 |
| Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis. | Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis.
Lopez-Sainz A, Dominguez F, Lopes LR, Ochoa JP, Barriales-Villa R, Climent V, Linschoten M, Tiron C, Chiriatti C, Marques N, Rasmussen TB, Espinosa MÁ, Beinart R, Quarta G, Cesar S, Field E, Garcia-Pinilla JM, Bilinska Z, Muir AR, Roberts AM, Santas E, Zorio E, Peña-Peña ML, Navarro M, Fernandez A, Palomino-Doza J, Azevedo O, Lorenzini M, García-Álvarez MI, Bento D, Jensen MK, Méndez I, Pezzoli L, Sarquella-Brugada G, Campuzano O, Gonzalez-Lopez E, Mogensen J, Kaski JP, Arad M, Brugada R, Asselbergs FW, Monserrat L, Olivotto I, Elliott PM, Garcia-Pavia P, European Genetic Cardiomyopathies Initiative Investigators. | 04/3/2021 |
| Phenotypic expression and clinical outcomes in a South Asian PRKAG2 cardiomyopathy cohort. | Phenotypic expression and clinical outcomes in a South Asian PRKAG2 cardiomyopathy cohort.
Ahamed H, Balegadde AV, Menon S, Menon R, Ramachandran A, Mathew N, Natarajan KU, Nair IR, Kannan R, Shankar M, Mathew OK, Nguyen TT, Gupta R, Stawiski EW, Ramprasad VL, Seshagiri S, Phalke S., Free PMC Article | 03/20/2021 |
| Identification, clinical manifestation and structural mechanisms of mutations in AMPK associated cardiac glycogen storage disease. | Identification, clinical manifestation and structural mechanisms of mutations in AMPK associated cardiac glycogen storage disease.
Hu D, Hu D, Liu L, Barr D, Liu Y, Balderrabano-Saucedo N, Wang B, Zhu F, Xue Y, Wu S, Song B, McManus H, Murphy K, Loes K, Adler A, Monserrat L, Antzelevitch C, Gollob MH, Elliott PM, Barajas-Martinez H., Free PMC Article | 02/2/2021 |
| Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation. | Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation.
Coban-Akdemir ZH, Charng WL, Azamian M, Paine IS, Punetha J, Grochowski CM, Gambin T, Valdes SO, Cannon B, Zapata G, Hernandez PP, Jhangiani S, Doddapaneni H, Hu J, Boricha F, Muzny DM, Boerwinkle E, Yang Y, Gibbs RA, Posey JE, Wehrens XHT, Belmont JW, Kim JJ, Miyake CY, Lupski JR, Lalani SR., Free PMC Article | 02/2/2021 |
| eQTL analysis found that rs10224002 was associated with PRKAG2 gene expression in peripheral blood (P = 0.0016). PRKAG2 was differentially expressed between hypertension cases and controls (P = 0.0133), coronary artery disease cases and controls (P = 0.02112) and stroke cases and controls (P = 0.0059). | SNPs rs10224002 in PRKAG2 may disturb gene expression and consequently affect hypertension.
Mo X, Zhang H, Zhou Z, Zhu Z, HuangFu X, Xu T, Wang A, Guo Z, Zhang Y. | 09/14/2019 |
| the PRKAG2-R302Q mutation led to increased AMPK activities, resulting in extensive glycogen deposition and cardiomyocyte hypertrophy. | Establishment of a PRKAG2 cardiac syndrome disease model and mechanism study using human induced pluripotent stem cells.
Zhan Y, Sun X, Li B, Cai H, Xu C, Liang Q, Lu C, Qian R, Chen S, Yin L, Sheng W, Huang G, Sun A, Ge J, Sun N. | 06/23/2019 |
| PRKAG2 mutations are associated with dominant hereditary heart defects that include left ventricular hypertrophy, ventricular pre-excitation, atrial tachyarrhythmia, cardiac conduction disease, and myocardial glycogen storage. | Human γ2-AMPK Mutations.
Yavari A, Sarma D, Sternick EB. | 03/9/2019 |
| Targeted analysis of DNA methylation array revealed the mesenchymal stem cells in infants born to obese mothers had hypermethylation in genes regulating Fatty Acid Oxidation (PRKAG2, ACC2, CPT1A, SDHC) and corresponding lower mRNA content of these genes. Moreover, mesenchymal stem cells methylation was positively correlated with infant adiposity. | Maternal obesity alters fatty acid oxidation, AMPK activity, and associated DNA methylation in mesenchymal stem cells from human infants.
Boyle KE, Patinkin ZW, Shapiro ALB, Bader C, Vanderlinden L, Kechris K, Janssen RC, Ford RJ, Smith BK, Steinberg GR, Davidson EJ, Yang IV, Dabelea D, Friedman JE., Free PMC Article | 01/19/2019 |
| 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. | A novel PRKAG2 mutation in a Chinese family with cardiac hypertrophy and ventricular pre-excitation.
Yang KQ, Lu CX, Zhang Y, Yang YK, Li JC, Lan T, Meng X, Fan P, Tian T, Wang LP, Liu YX, Zhang X, Zhou XL., Free PMC Article | 12/22/2018 |
| PRKAG2-mutated iPSC-CMs displayed functional and structural abnormalities, which were abolished by correcting the mutation in the patient's iPSCs using CRISPR technology. | CRISPR correction of the PRKAG2 gene mutation in the patient's induced pluripotent stem cell-derived cardiomyocytes eliminates electrophysiological and structural abnormalities.
Ben Jehuda R, Eisen B, Shemer Y, Mekies LN, Szantai A, Reiter I, Cui H, Guan K, Haron-Khun S, Freimark D, Sperling SR, Gherghiceanu M, Arad M, Binah O. | 10/27/2018 |
| 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. | Mammalian γ2 AMPK regulates intrinsic heart rate.
Yavari A, Bellahcene M, Bucchi A, Sirenko S, Pinter K, Herring N, Jung JJ, Tarasov KV, Sharpe EJ, Wolfien M, Czibik G, Steeples V, Ghaffari S, Nguyen C, Stockenhuber A, Clair JRS, Rimmbach C, Okamoto Y, Yang D, Wang M, Ziman BD, Moen JM, Riordon DR, Ramirez C, Paina M, Lee J, Zhang J, Ahmet I, Matt MG, Tarasova YS, Baban D, Sahgal N, Lockstone H, Puliyadi R, de Bono J, Siggs OM, Gomes J, Muskett H, Maguire ML, Beglov Y, Kelly M, Dos Santos PPN, Bright NJ, Woods A, Gehmlich K, Isackson H, Douglas G, Ferguson DJP, Schneider JE, Tinker A, Wolkenhauer O, Channon KM, Cornall RJ, Sternick EB, Paterson DJ, Redwood CS, Carling D, Proenza C, David R, Baruscotti M, DiFrancesco D, Lakatta EG, Watkins H, Ashrafian H., Free PMC Article | 10/6/2018 |
| Case Report: PRKAG2 missense mutation causing glycogen storage disease and severe biventricular hypertrophy and high-grade atrio-ventricular block. | Glycogen Storage Disease Because of a PRKAG2 Mutation Causing Severe Biventricular Hypertrophy and High-Grade Atrio-Ventricular Block.
Yogasundaram H, Paterson ID, Graham M, Sergi C, Oudit GY. | 09/1/2018 |
| We highlight the potential for patients with PRKAG2 mutations. | PRKAG2 mutations presenting in infancy.
Torok RD, Austin SL, Phornphutkul C, Rotondo KM, Bali D, Tatum GH, Wechsler SB, Buckley AF, Kishnani PS. | 06/9/2018 |
| 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. | High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations.
Thevenon J, Laurent G, Ader F, Laforêt P, Klug D, Duva Pentiah A, Gouya L, Maurage CA, Kacet S, Eicher JC, Albuisson J, Desnos M, Bieth E, Duboc D, Martin L, Réant P, Picard F, Bonithon-Kopp C, Gautier E, Binquet C, Thauvin-Robinet C, Faivre L, Bouvagnet P, Charron P, Richard P. | 01/13/2018 |
| 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. | Wolff-Parkinson-White Syndrome with Ventricular Hypertrophy in a Brazilian Family.
van der Steld LP, Campuzano O, Pérez-Serra A, Moura de Barros Zamorano M, Sousa Matos S, Brugada R., Free PMC Article | 12/2/2017 |