Differential regulation of AMPK activation in leptin- and creatine-deficient mice.
Stockebrand M, Sauter K, Neu A, Isbrandt D, Choe CU.
FASEB J. 2013 Jun 28.

Disturbed energy metabolism and muscular dystrophy caused by pure creatine deficiency are reversible by creatine intake.
Nabuurs CI, Choe CU, Veltien A, Kan HE, Van Loon LJ, Rodenburg RJ, Matschke J, Wieringa B, Kemp GJ, Isbrandt D, Heerschap A.
J Physiol. 2012 Nov 5

L-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome.

Choe CU, Nabuurs C, Stockebrand MC, Neu A, Nunes P, Morellini F, Sauter K, Schillemeit S, Hermans-Borgmeyer I, Marescau B, Heerschap A, Isbrandt D.
Hum Mol Genet. 2012 Oct 9. (PDF)

In vivo magnetic resonance spectroscopy of transgenic mice with altered expression of guanidinoacetate methyltransferase and creatine kinase isoenzymes.
Heerschap A, Kan HE, Nabuurs CI, Renema WK, Isbrandt D, Wieringa B.
Subcell Biochem. 2007;46:119-48. Review.

Creatine uptake in mouse hearts with genetically altered creatine levels.
ten Hove M, Makinen K, Sebag-Montefiore L, Hunyor I, Fischer A, Wallis J, Isbrandt D, Lygate C, Neubauer S.
J Mol Cell Cardiol. 2008 Sep;45(3):453-9. Epub 2008 Jun 10.
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Cardiac structure and function during ageing in energetically compromised Guanidinoacetate N-methyltransferase (GAMT)-knockout mice - a one year longitudinal MRI study.
Schneider JE, Stork LA, Bell JT, ten Hove M, Isbrandt D, Clarke K, Watkins H, Lygate CA, Neubauer S.
J Cardiovasc Magn Reson. 2008 Feb 6;10(1):9.
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Creatine uptake in brain and skeletal muscle of mice lacking guanidinoacetate methyltransferase assessed by magnetic resonance spectroscopy.
Kan HE, Meeuwissen E, van Asten JJ, Veltien A, Isbrandt D, Heerschap A.
J Appl Physiol. 2007 Jun;102(6):2121-7. Epub 2007 Mar 8.
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Reduced inotropic reserve and increased susceptibility to cardiac ischemia/reperfusion injury in phosphocreatine-deficient guanidinoacetate-N-methyltransferase-knockout mice.
ten Hove M, Lygate CA, Fischer A, Schneider JE, Sang AE, Hulbert K, Sebag-Montefiore L, Watkins H, Clarke K, Isbrandt D, Wallis J, Neubauer S.
Circulation. 2005 May 17;111(19):2477-85. Epub 2005 May 9.
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Biochemical and behavioural phenotyping of a mouse model for GAMT deficiency.
Torremans A, Marescau B, Possemiers I, Van Dam D, D'Hooge R, Isbrandt D, De Deyn PP.
J Neurol Sci. 2005 Apr 15;231(1-2):49-55.
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Lower force and impaired performance during high-intensity electrical stimulation in skeletal muscle of GAMT-deficient knockout mice.
Kan HE, Buse-Pot TE, Peco R, Isbrandt D, Heerschap A, de Haan A.
Am J Physiol Cell Physiol. 2005 Jul;289(1):C113-9. Epub 2005 Mar 2.
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In vivo cardiac 1H-MRS in the mouse.
Schneider JE, Tyler DJ, ten Hove M, Sang AE, Cassidy PJ, Fischer A, Wallis J, Sebag-Montefiore LM, Watkins H, Isbrandt D, Clarke K, Neubauer S.
Magn Reson Med. 2004 Nov;52(5):1029-35.

Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes.
Steinfeld R, Steinke HB, Isbrandt D, Kohlschütter A, Gärtner J.
Hum Mol Genet. 2004 Oct 15;13(20):2483-91. Epub 2004 Aug 18.
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Phosphorylated guanidinoacetate partly compensates for the lack of phosphocreatine in skeletal muscle of mice lacking guanidinoacetate methyltransferase.
Kan HE, Renema WK, Isbrandt D, Heerschap A.
J Physiol. 2004 Oct 1;560(Pt 1):219-29. Epub 2004 Jul 29.
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Severely altered guanidino compound levels, disturbed body weight homeostasis and impaired fertility in a mouse model of guanidinoacetate N-methyltransferase (GAMT) deficiency.
Schmidt A, Marescau B, Boehm EA, Renema WK, Peco R, Das A, Steinfeld R, Chan S, Wallis J, Davidoff M, Ullrich K, Waldschütz R, Heerschap A, De Deyn PP, Neubauer S, Isbrandt D.
Hum Mol Genet. 2004 May 1;13(9):905-21. Epub 2004 Mar 17.
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MR spectroscopy of muscle and brain in guanidinoacetate methyltransferase (GAMT)-deficient mice: validation of an animal model to study creatine deficiency.
Renema WK, Schmidt A, van Asten JJ, Oerlemans F, Ullrich K, Wieringa B, Isbrandt D, Heerschap A.
Magn Reson Med. 2003 Nov;50(5):936-43.
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Activation of GABA(A) receptors by guanidinoacetate: a novel pathophysiological mechanism.
Neu A, Neuhoff H, Trube G, Fehr S, Ullrich K, Roeper J, Isbrandt D.
Neurobiol Dis. 2002 Nov;11(2):298-307.
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Identification and functional characterization of a novel KCNE2 (MiRP1) mutation that alters HERG channel kinetics.
Isbrandt D, Friederich P, Solth A, Haverkamp W, Ebneth A, Borggrefe M, Funke H, Sauter K, Breithardt G, Pongs O, Schulze-Bahr E.
J Mol Med. 2002 Aug;80(8):524-32. Epub 2002 Jun 28.
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Upregulation of respiratory chain enzymes in guanidinoacetate methyltransferase deficiency.
Das AM, Ullrich K, Isbrandt D.
J Inherit Metab Dis. 2000 Jun;23(4):375-7.
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Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man.
Stöckler S, Isbrandt D, Hanefeld F, Schmidt B, von Figura K.
Am J Hum Genet. 1996 May;58(5):914-22.
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Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy syndrome.
Isbrandt D, Hopwood JJ, von Figura K, Peters C.
Hum Mutat. 1996;7(4):361-3. No abstract available.

Cloning and sequence analysis of human guanidinoacetate N-methyltransferase cDNA.
Isbrandt D, von Figura K.
Biochim Biophys Acta. 1995 Dec 27;1264(3):265-7.
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Juvenile form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). A C-terminal extension causes instability but increases catalytic efficiency of arylsulfatase B.
Arlt G, Brooks DA, Isbrandt D, Hopwood JJ, Bielicki J, Bradford TM, Bindloss-Petherbridge CA, von Figura K, Peters C.
J Biol Chem. 1994 Apr 1;269(13):9638-43.
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Four novel mutant alleles of the arylsulfatase B gene in two patients with intermediate form of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
Voskoboeva E, Isbrandt D, von Figura K, Krasnopolskaya X, Peters C.
Hum Genet. 1994 Mar;93(3):259-64.

Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes.
Isbrandt D, Arlt G, Brooks DA, Hopwood JJ, von Figura K, Peters C.
Am J Hum Genet. 1994 Mar;54(3):454-63.
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