Braulke T - Search Results

1

Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A).

Meyer A, Kossow K, Gal A, Mühlhausen C, Ullrich K, Braulke T, Muschol N. Meyer A, et al. Among authors: braulke t. Pediatrics. 2007 Nov;120(5):e1255-61. doi: 10.1542/peds.2007-0282. Epub 2007 Oct 15. Pediatrics. 2007. PMID: 17938166

2

The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).

Meyer A, Kossow K, Gal A, Steglich C, Mühlhausen C, Ullrich K, Braulke T, Muschol N. Meyer A, et al. Among authors: braulke t. Hum Mutat. 2008 May;29(5):770. doi: 10.1002/humu.20738. Hum Mutat. 2008. PMID: 18407553

3

Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome.

Muschol N, Pohl S, Meyer A, Gal A, Ullrich K, Braulke T. Muschol N, et al. Among authors: braulke t. Am J Med Genet A. 2011 Jul;155A(7):1634-9. doi: 10.1002/ajmg.a.34053. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671382

4

Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.

Muschol N, Storch S, Ballhausen D, Beesley C, Westermann JC, Gal A, Ullrich K, Hopwood JJ, Winchester B, Braulke T. Muschol N, et al. Among authors: braulke t. Hum Mutat. 2004 Jun;23(6):559-66. doi: 10.1002/humu.20037. Hum Mutat. 2004. PMID: 15146460

5

Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype.

Tiede S, Muschol N, Reutter G, Cantz M, Ullrich K, Braulke T. Tiede S, et al. Among authors: braulke t. Am J Med Genet A. 2005 Sep 1;137A(3):235-40. doi: 10.1002/ajmg.a.30868. Am J Med Genet A. 2005. PMID: 16094673

6

Transport and distribution of 3-hydroxyglutaric acid before and during induced encephalopathic crises in a mouse model of glutaric aciduria type 1.

Keyser B, Glatzel M, Stellmer F, Kortmann B, Lukacs Z, Kölker S, Sauer SW, Muschol N, Herdering W, Thiem J, Goodman SI, Koeller DM, Ullrich K, Braulke T, Mühlhausen C. Keyser B, et al. Among authors: braulke t. Biochim Biophys Acta. 2008 Jun;1782(6):385-90. doi: 10.1016/j.bbadis.2008.02.008. Epub 2008 Feb 29. Biochim Biophys Acta. 2008. PMID: 18348873 Free article.

7

Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH).

Keyser B, Mühlhausen C, Dickmanns A, Christensen E, Muschol N, Ullrich K, Braulke T. Keyser B, et al. Among authors: braulke t. Hum Mol Genet. 2008 Dec 15;17(24):3854-63. doi: 10.1093/hmg/ddn284. Epub 2008 Sep 5. Hum Mol Genet. 2008. PMID: 18775954

8

Mutational analysis in longest known survivor of mucopolysaccharidosis type VII.

Storch S, Wittenstein B, Islam R, Ullrich K, Sly WS, Braulke T. Storch S, et al. Among authors: braulke t. Hum Genet. 2003 Feb;112(2):190-4. doi: 10.1007/s00439-002-0849-5. Epub 2002 Nov 5. Hum Genet. 2003. PMID: 12522561

9

Endothelial effects of 3-hydroxyglutaric acid: implications for glutaric aciduria type I.

Mühlhausen C, Ott N, Chalajour F, Tilki D, Freudenberg F, Shahhossini M, Thiem J, Ullrich K, Braulke T, Ergün S. Mühlhausen C, et al. Among authors: braulke t. Pediatr Res. 2006 Feb;59(2):196-202. doi: 10.1203/01.pdr.0000197313.44265.cb. Pediatr Res. 2006. PMID: 16439578

10

Glutaric aciduria type 1 metabolites impair the succinate transport from astrocytic to neuronal cells.

Lamp J, Keyser B, Koeller DM, Ullrich K, Braulke T, Mühlhausen C. Lamp J, et al. Among authors: braulke t. J Biol Chem. 2011 May 20;286(20):17777-84. doi: 10.1074/jbc.M111.232744. Epub 2011 Mar 29. J Biol Chem. 2011. PMID: 21454630 Free PMC article.

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