Roscher AA - Search Results

1

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: roscher aa. Hum Mol Genet. 2001 Jun 1;10(12):1299-306. doi: 10.1093/hmg/10.12.1299. Hum Mol Genet. 2001. PMID: 11406611

2

Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency.

Holzinger A, Maier EM, Bück C, Mayerhofer PU, Kappler M, Haworth JC, Moroz SP, Hadorn HB, Sadler JE, Roscher AA. Holzinger A, et al. Among authors: roscher aa. Am J Hum Genet. 2002 Jan;70(1):20-5. doi: 10.1086/338456. Epub 2001 Nov 21. Am J Hum Genet. 2002. PMID: 11719902 Free PMC article.

3

Mitochondrial targeting signals and mature peptides of 3-methylcrotonyl-CoA carboxylase.

Stadler SC, Polanetz R, Meier S, Mayerhofer PU, Herrmann JM, Anslinger K, Roscher AA, Röschinger W, Holzinger A. Stadler SC, et al. Among authors: roscher aa. Biochem Biophys Res Commun. 2005 Sep 2;334(3):939-46. doi: 10.1016/j.bbrc.2005.06.190. Biochem Biophys Res Commun. 2005. PMID: 16023992

4

Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.

Stadler SC, Polanetz R, Maier EM, Heidenreich SC, Niederer B, Mayerhofer PU, Lagler F, Koch HG, Santer R, Fletcher JM, Ranieri E, Das AM, Spiekerkötter U, Schwab KO, Pötzsch S, Marquardt I, Hennermann JB, Knerr I, Mercimek-Mahmutoglu S, Kohlschmidt N, Liebl B, Fingerhut R, Olgemöller B, Muntau AC, Roscher AA, Röschinger W. Stadler SC, et al. Among authors: roscher aa. Hum Mutat. 2006 Aug;27(8):748-59. doi: 10.1002/humu.20349. Hum Mutat. 2006. PMID: 16835865

5

Full length cDNA cloning, promoter sequence, and genomic organization of the human adrenoleukodystrophy related (ALDR) gene functionally redundant to the gene responsible for X-linked adrenoleukodystrophy.

Holzinger A, Mayerhofer P, Berger J, Lichtner P, Kammerer S, Roscher AA. Holzinger A, et al. Among authors: roscher aa. Biochem Biophys Res Commun. 1999 May 10;258(2):436-42. doi: 10.1006/bbrc.1999.0535. Biochem Biophys Res Commun. 1999. PMID: 10329405

6

Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination.

Röschinger W, Muntau AC, Rudolph G, Roscher AA, Kammerer S. Röschinger W, et al. Among authors: roscher aa. Mol Genet Metab. 2000 Mar;69(3):213-22. doi: 10.1006/mgme.1999.2955. Mol Genet Metab. 2000. PMID: 10767176

7

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. Among authors: roscher aa. 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.

8

Two splice variants of human PEX19 exhibit distinct functions in peroxisomal assembly.

Mayerhofer PU, Kattenfeld T, Roscher AA, Muntau AC. Mayerhofer PU, et al. Among authors: roscher aa. Biochem Biophys Res Commun. 2002 Mar 15;291(5):1180-6. doi: 10.1006/bbrc.2002.6568. Biochem Biophys Res Commun. 2002. PMID: 11883941

9

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: roscher aa. 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.

10

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: roscher aa. 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.

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