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Items: 1 to 20 of 138

1.

Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency.

Burwinkel B, Scott JW, Bührer C, van Landeghem FK, Cox GF, Wilson CJ, Grahame Hardie D, Kilimann MW.

Am J Hum Genet. 2005 Jun;76(6):1034-49. Epub 2005 May 2.

2.

Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinase.

Akman HO, Sampayo JN, Ross FA, Scott JW, Wilson G, Benson L, Bruno C, Shanske S, Hardie DG, Dimauro S.

Pediatr Res. 2007 Oct;62(4):499-504.

PMID:
17667862
3.

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.

4.

A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis.

Laforêt P, Richard P, Said MA, Romero NB, Lacene E, Leroy JP, Baussan C, Hogrel JY, Lavergne T, Wahbi K, Hainque B, Duboc D.

Neuromuscul Disord. 2006 Mar;16(3):178-82. Epub 2006 Feb 17.

PMID:
16487706
5.

Mutation analysis of AMP-activated protein kinase subunits in inherited cardiomyopathies: implications for kinase function and disease pathogenesis.

Oliveira SM, Ehtisham J, Redwood CS, Ostman-Smith I, Blair EM, Watkins H.

J Mol Cell Cardiol. 2003 Oct;35(10):1251-5.

PMID:
14519435
6.

Glycogen storage diseases presenting as hypertrophic cardiomyopathy.

Arad M, Maron BJ, Gorham JM, Johnson WH Jr, Saul JP, Perez-Atayde AR, Spirito P, Wright GB, Kanter RJ, Seidman CE, Seidman JG.

N Engl J Med. 2005 Jan 27;352(4):362-72.

7.

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.

8.

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.

9.

Molecular genetic analysis of PRKAG2 in sporadic Wolff-Parkinson-White syndrome.

Vaughan CJ, Hom Y, Okin DA, McDermott DA, Lerman BB, Basson CT.

J Cardiovasc Electrophysiol. 2003 Mar;14(3):263-8.

PMID:
12716108
10.

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.

11.

Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.

Burwinkel B, Hu B, Schroers A, Clemens PR, Moses SW, Shin YS, Pongratz D, Vorgerd M, Kilimann MW.

Eur J Hum Genet. 2003 Jul;11(7):516-26.

13.
14.

[AMP-activated protein kinase: how a mistake in energy gauge causes glycogen storage].

Ofir M, Hochhauser E, Vidne BA, Freimark D, Arad M.

Harefuah. 2007 Oct;146(10):770-5, 813-4. Review. Hebrew.

PMID:
17990392
15.

Adenosine monophosphate-activated protein kinase disease mimicks hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome: natural history.

Murphy RT, Mogensen J, McGarry K, Bahl A, Evans A, Osman E, Syrris P, Gorman G, Farrell M, Holton JL, Hanna MG, Hughes S, Elliott PM, Macrae CA, McKenna WJ.

J Am Coll Cardiol. 2005 Mar 15;45(6):922-30.

16.

Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB).

Burwinkel B, Maichele AJ, Aagenaes O, Bakker HD, Lerner A, Shin YS, Strachan JA, Kilimann MW.

Hum Mol Genet. 1997 Jul;6(7):1109-15.

PMID:
9215682
17.

Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene.

Burwinkel B, Amat L, Gray RG, Matsuo N, Muroya K, Narisawa K, Sokol RJ, Vilaseca MA, Kilimann MW.

Hum Genet. 1998 Apr;102(4):423-9.

PMID:
9600238
18.

A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity.

Burwinkel B, Sanjad SA, Al-Sabban E, Al-Abbad A, Kilimann MW.

Hum Genet. 1999 Sep;105(3):240-3.

PMID:
10987651
19.

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.

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