Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 81

1.

Distinct early signaling events resulting from the expression of the PRKAG2 R302Q mutant of AMPK contribute to increased myocardial glycogen.

Folmes KD, Chan AY, Koonen DP, Pulinilkunnil TC, Baczkó I, Hunter BE, Thorn S, Allard MF, Roberts R, Gollob MH, Light PE, Dyck JR.

Circ Cardiovasc Genet. 2009 Oct;2(5):457-66. doi: 10.1161/CIRCGENETICS.108.834564. Epub 2009 Jul 15.

PMID:
20031621
2.

Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy.

Arad M, Moskowitz IP, Patel VV, Ahmad F, Perez-Atayde AR, Sawyer DB, Walter M, Li GH, Burgon PG, Maguire CT, Stapleton D, Schmitt JP, Guo XX, Pizard A, Kupershmidt S, Roden DM, Berul CI, Seidman CE, Seidman JG.

Circulation. 2003 Jun 10;107(22):2850-6. Epub 2003 Jun 2.

PMID:
12782567
3.

Identification and functional analysis of a novel PRKAG2 mutation responsible for Chinese PRKAG2 cardiac syndrome reveal an important role of non-CBS domains in regulating the AMPK pathway.

Zhang BL, Xu RL, Zhang J, Zhao XX, Wu H, Ma LP, Hu JQ, Zhang JL, Ye Z, Zheng X, Qin YW.

J Cardiol. 2013 Oct;62(4):241-8. doi: 10.1016/j.jjcc.2013.04.010. Epub 2013 Jun 15.

4.

Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy.

Arad M, Benson DW, Perez-Atayde AR, McKenna WJ, Sparks EA, Kanter RJ, McGarry K, Seidman JG, Seidman CE.

J Clin Invest. 2002 Feb;109(3):357-62.

5.

Transgenic mouse model of ventricular preexcitation and atrioventricular reentrant tachycardia induced by an AMP-activated protein kinase loss-of-function mutation responsible for Wolff-Parkinson-White syndrome.

Sidhu JS, Rajawat YS, Rami TG, Gollob MH, Wang Z, Yuan R, Marian AJ, DeMayo FJ, Weilbacher D, Taffet GE, Davies JK, Carling D, Khoury DS, Roberts R.

Circulation. 2005 Jan 4;111(1):21-9. Epub 2004 Dec 20.

6.

Gain-of-function R225W mutation in human AMPKgamma(3) causing increased glycogen and decreased triglyceride in skeletal muscle.

Costford SR, Kavaslar N, Ahituv N, Chaudhry SN, Schackwitz WS, Dent R, Pennacchio LA, McPherson R, Harper ME.

PLoS One. 2007 Sep 19;2(9):e903.

7.

Novel PRKAG2 mutation responsible for the genetic syndrome of ventricular preexcitation and conduction system disease with childhood onset and absence of cardiac hypertrophy.

Gollob MH, Seger JJ, Gollob TN, Tapscott T, Gonzales O, Bachinski L, Roberts R.

Circulation. 2001 Dec 18;104(25):3030-3.

PMID:
11748095
8.

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.

Heart Rhythm. 2018 Feb;15(2):267-276. doi: 10.1016/j.hrthm.2017.09.024. Epub 2017 Sep 14.

PMID:
28917552
9.

A PRKAG2 mutation causes biphasic changes in myocardial AMPK activity and does not protect against ischemia.

Banerjee SK, Ramani R, Saba S, Rager J, Tian R, Mathier MA, Ahmad F.

Biochem Biophys Res Commun. 2007 Aug 24;360(2):381-7. Epub 2007 Jun 19.

PMID:
17597581
10.

Increased glycogen stores due to gamma-AMPK overexpression protects against ischemia and reperfusion damage.

Ofir M, Arad M, Porat E, Freimark D, Chepurko Y, Vidne BA, Seidman CE, Seidman JG, Kemp BE, Hochhauser E.

Biochem Pharmacol. 2008 Apr 1;75(7):1482-91. doi: 10.1016/j.bcp.2007.12.011. Epub 2008 Jan 5.

PMID:
18261713
11.

Overexpression of G100S mutation in PRKAG2 causes Wolff-Parkinson-White syndrome in zebrafish.

Zhang BL, Ye Z, Xu RL, You XH, Qin YW, Wu H, Cao J, Zhang JL, Zheng X, Zhao XX.

Clin Genet. 2014 Sep;86(3):287-91. doi: 10.1111/cge.12267. Epub 2013 Oct 25.

PMID:
23992123
12.

Electrophysiologic characterization and postnatal development of ventricular pre-excitation in a mouse model of cardiac hypertrophy and Wolff-Parkinson-White syndrome.

Patel VV, Arad M, Moskowitz IP, Maguire CT, Branco D, Seidman JG, Seidman CE, Berul CI.

J Am Coll Cardiol. 2003 Sep 3;42(5):942-51.

14.

N488I mutation of the gamma2-subunit results in bidirectional changes in AMP-activated protein kinase activity.

Zou L, Shen M, Arad M, He H, Løfgren B, Ingwall JS, Seidman CE, Seidman JG, Tian R.

Circ Res. 2005 Aug 19;97(4):323-8. Epub 2005 Jul 28.

PMID:
16051890
15.

Mutation in the γ2-subunit of AMP-activated protein kinase stimulates cardiomyocyte proliferation and hypertrophy independent of glycogen storage.

Kim M, Hunter RW, Garcia-Menendez L, Gong G, Yang YY, Kolwicz SC Jr, Xu J, Sakamoto K, Wang W, Tian R.

Circ Res. 2014 Mar 14;114(6):966-75. doi: 10.1161/CIRCRESAHA.114.302364. Epub 2014 Feb 6.

16.

Increased alpha2 subunit-associated AMPK activity and PRKAG2 cardiomyopathy.

Ahmad F, Arad M, Musi N, He H, Wolf C, Branco D, Perez-Atayde AR, Stapleton D, Bali D, Xing Y, Tian R, Goodyear LJ, Berul CI, Ingwall JS, Seidman CE, Seidman JG.

Circulation. 2005 Nov 15;112(20):3140-8. Epub 2005 Nov 7.

PMID:
16275868
17.

The AMPK gamma1 R70Q mutant regulates multiple metabolic and growth pathways in neonatal cardiac myocytes.

Folmes KD, Witters LA, Allard MF, Young ME, Dyck JR.

Am J Physiol Heart Circ Physiol. 2007 Dec;293(6):H3456-64. Epub 2007 Sep 28.

18.

A novel, de novo mutation in the PRKAG2 gene: infantile-onset phenotype and the signaling pathway involved.

Xu Y, Gray A, Hardie DG, Uzun A, Shaw S, Padbury J, Phornphutkul C, Tseng YT.

Am J Physiol Heart Circ Physiol. 2017 Aug 1;313(2):H283-H292. doi: 10.1152/ajpheart.00813.2016. Epub 2017 May 26.

19.

The relationship between p38 mitogen-activated protein kinase and AMP-activated protein kinase during myocardial ischemia.

Jacquet S, Zarrinpashneh E, Chavey A, Ginion A, Leclerc I, Viollet B, Rutter GA, Bertrand L, Marber MS.

Cardiovasc Res. 2007 Dec 1;76(3):465-72. Epub 2007 Aug 8.

PMID:
17765884
20.

Glycogen storage disease as a unifying mechanism of disease in the PRKAG2 cardiac syndrome.

Gollob MH.

Biochem Soc Trans. 2003 Feb;31(Pt 1):228-31. Review.

PMID:
12546691

Supplemental Content

Support Center