Most recent publications

Gersting SW, Lagler FB, Eichinger A, Kemter KF, Danecka MK, Messing DD, Staudigl M, Domdey KA, Zsifkovits C, Fingerhut R, Glossmann H, Roscher AA, Muntau AC., Pahenu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo. Hum Mol Genet. 2010 May 15;19(10):2039-49. Epub 2010 Feb 23. PubMed PMID: 20179079.

Scholl-Bürgi S, Sass JO, Heinz-Erian P, Amann E, Haberlandt E, Albrecht U, Ertl C, Sigl SB, Lagler F, Rostasy K, Karall D., Changes in plasma amino acid concentrations with increasing age in patients with propionic acidemia., Amino Acids. 2010 May;38(5):1473-81. Epub 2009 Oct 1. PubMed PMID 19795187.

Gersting SW, Kemter KF, Staudigl M, Messing DD, Danecka MK, Lagler FB, Sommerhoff CP, Roscher AA, Muntau AC., Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability., Am J Hum Genet. 2008 Jul;83(1):5-17. Epub 2008 Jun 5. PubMed PMID 18538294.

Stadler SC, Polanetz R, Maier EM, Heidenreich SC, Niederer B, Mayerhofer PU, Lagler F, Koch HG, Santer R, Fletcher JM, Ranieri E, Das AM, Spiekerkotter U, Schwab KO, Potzsch S, Marquardt I, Hennermann JB, Knerr I, Mercimek-Mahmutoglu S, Kohlschmidt N, Liebl B, Fingerhut R, Olgemoller B, Muntau AC, Roscher AA, Roschinger W. Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment. Hum Mutat. 2006 Aug;27(8):748-59.

Kolker S, Garbade SF, Greenberg CR, Leonard JV, Saudubray JM, Ribes A,Kalkanoglu HS, Lund AM, Merinero B, Wajner M, Troncoso M, Williams M, Walter JH,Campistol J, Marti-Herrero M, Caswill M, Burlina AB, Lagler F , Maier EM, Schwahn B, Tokatli A, Dursun A, Coskun T, Chalmers RA, Koeller DM, Zschocke J, Christensen E, Burgard P, Hoffmann GF. Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. Pediatr Res. 2006 Jun;59(6):840-7.

Linnebank M, Lagler F , Muntau AC, Joschinger W, Olgemoller B, Fowler B, Koch HG. Methionine adenosyltransferase (MAT) I/III deficiency with concurrent hyperhomocysteinaemia: two novel cases. J Inherit Metab Dis. 2005;28(6):1167-8.

Obermair GJ, Kugler G , Baumgartner S, Tuluc P, Grabner M , Flucher BE.The Ca2+ channel alpha2delta-1 subunit determines Ca2+ current kinetics in skeletal muscle but not targeting of alpha1S or excitation-contraction coupling. J Biol Chem. 2005 Jan 21;280(3):2229-37.

Schuhmeier RP, Gouadon E, Ursu D, Kasielke N , Flucher BE, Grabner M , Melzer W. Functional interaction of CaV channel isoforms with ryanodine receptors studied in dysgenic myotubes. Biophys J. 2005 Mar;88(3):1765-77

Laggner C, Schieferer C, Fiechtner B, Poles G, Hoffmann RD, Glossmann H, Langer T, Moebius FF. Discovery of high-affinity ligands of sigma1 receptor, ERG2, and emopamil binding protein by pharmacophore modeling and virtual screening. J Med Chem. 2005 Jul 28;48(15):4754-64.

Flucher BE, Obermair GJ, Tuluc P, Schredelseker J , Kern G, Grabner M. The role of auxiliary dihydropyridine receptor subunits in muscle. J Muscle Res Cell Motil. 2005;26(1):1-6. Epub 2005 Oct 14.

Schredelseker J , Di Biase V, Obermair GJ, Felder ET, Flucher BE, Franzini-Armstrong C, Grabner M . The beta 1a subunit is essential for the assembly of dihydropyridine-receptor arrays in skeletal muscle. Proc Natl Acad Sci U S A. 2005 Nov 22;102(47):17219-24.

to be continued...