Muntau AC - Search Results

1

Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture.

Schmiesing J, Lohmöller B, Schweizer M, Tidow H, Gersting SW, Muntau AC, Braulke T, Mühlhausen C. Schmiesing J, et al. Among authors: muntau ac. Hum Mol Genet. 2017 Feb 1;26(3):538-551. doi: 10.1093/hmg/ddw411. Hum Mol Genet. 2017. PMID: 28062662

2

Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency.

Hoffmann GF, Böhles HJ, Burlina A, Duran M, Herwig J, Lehnert W, Leonard JV, Muntau A, Plecko-Starting FK, Superti-Furga A, et al. Hoffmann GF, et al. J Inherit Metab Dis. 1995;18(2):173-6. doi: 10.1007/BF00711759. J Inherit Metab Dis. 1995. PMID: 7564239 No abstract available.

3

Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency.

Hoffmann GF, Athanassopoulos S, Burlina AB, Duran M, de Klerk JB, Lehnert W, Leonard JV, Monavari AA, Müller E, Muntau AC, Naughten ER, Plecko-Starting B, Superti-Furga A, Zschocke J, Christensen E. Hoffmann GF, et al. Among authors: muntau ac. Neuropediatrics. 1996 Jun;27(3):115-23. doi: 10.1055/s-2007-973761. Neuropediatrics. 1996. PMID: 8837070

4

Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G.

Muntau AC, Mayerhofer PU, Paton BC, Kammerer S, Roscher AA. Muntau AC, et al. Am J Hum Genet. 2000 Oct;67(4):967-75. doi: 10.1086/303071. Epub 2000 Aug 24. Am J Hum Genet. 2000. PMID: 10958759 Free PMC article.

5

Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency.

Holzinger A, Röschinger W, Lagler F, Mayerhofer PU, Lichtner P, Kattenfeld T, Thuy LP, Nyhan WL, Koch HG, Muntau AC, Roscher AA. Holzinger A, et al. Among authors: muntau ac. Hum Mol Genet. 2001 Jun 1;10(12):1299-306. doi: 10.1093/hmg/10.12.1299. Hum Mol Genet. 2001. PMID: 11406611

6

Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability.

Gersting SW, Kemter KF, Staudigl M, Messing DD, Danecka MK, Lagler FB, Sommerhoff CP, Roscher AA, Muntau AC. Gersting SW, et al. Among authors: muntau ac. Am J Hum Genet. 2008 Jul;83(1):5-17. doi: 10.1016/j.ajhg.2008.05.013. Epub 2008 Jun 5. Am J Hum Genet. 2008. PMID: 18538294 Free PMC article.

7

Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening.

Maier EM, Gersting SW, Kemter KF, Jank JM, Reindl M, Messing DD, Truger MS, Sommerhoff CP, Muntau AC. Maier EM, et al. Among authors: muntau ac. Hum Mol Genet. 2009 May 1;18(9):1612-23. doi: 10.1093/hmg/ddp079. Epub 2009 Feb 18. Hum Mol Genet. 2009. PMID: 19224950 Free PMC article.

8

Pahenu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo.

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. Gersting SW, et al. Among authors: muntau ac. Hum Mol Genet. 2010 May 15;19(10):2039-49. doi: 10.1093/hmg/ddq085. Epub 2010 Feb 23. Hum Mol Genet. 2010. PMID: 20179079 Free article.

9

Activation of phenylalanine hydroxylase induces positive cooperativity toward the natural cofactor.

Gersting SW, Staudigl M, Truger MS, Messing DD, Danecka MK, Sommerhoff CP, Kemter KF, Muntau AC. Gersting SW, et al. Among authors: muntau ac. J Biol Chem. 2010 Oct 1;285(40):30686-97. doi: 10.1074/jbc.M110.124016. Epub 2010 Jul 27. J Biol Chem. 2010. PMID: 20667834 Free PMC article.

10

New insights into tetrahydrobiopterin pharmacodynamics from Pah enu1/2, a mouse model for compound heterozygous tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

Lagler FB, Gersting SW, Zsifkovits C, Steinbacher A, Eichinger A, Danecka MK, Staudigl M, Fingerhut R, Glossmann H, Muntau AC. Lagler FB, et al. Among authors: muntau ac. Biochem Pharmacol. 2010 Nov 15;80(10):1563-71. doi: 10.1016/j.bcp.2010.07.042. Epub 2010 Aug 10. Biochem Pharmacol. 2010. PMID: 20705059

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