Steinfeld R - Search Results

1

Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism.

Steinfeld R, Grapp M, Kraetzner R, Dreha-Kulaczewski S, Helms G, Dechent P, Wevers R, Grosso S, Gärtner J. Steinfeld R, et al. Am J Hum Genet. 2009 Sep;85(3):354-63. doi: 10.1016/j.ajhg.2009.08.005. Am J Hum Genet. 2009. PMID: 19732866 Free PMC article.

2

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. Steinfeld R, et al. Hum Mol Genet. 2004 Oct 15;13(20):2483-91. doi: 10.1093/hmg/ddh264. Epub 2004 Aug 18. Hum Mol Genet. 2004. PMID: 15317752

3

Cathepsin D deficiency is associated with a human neurodegenerative disorder.

Steinfeld R, Reinhardt K, Schreiber K, Hillebrand M, Kraetzner R, Bruck W, Saftig P, Gartner J. Steinfeld R, et al. Am J Hum Genet. 2006 Jun;78(6):988-98. doi: 10.1086/504159. Epub 2006 Mar 29. Am J Hum Genet. 2006. PMID: 16685649 Free PMC article.

4

Detection of tripeptidyl peptidase I activity in living cells by fluorogenic substrates.

Steinfeld R, Fuhrmann JC, Gärtner J. Steinfeld R, et al. J Histochem Cytochem. 2006 Sep;54(9):991-6. doi: 10.1369/jhc.5A6900.2006. Epub 2006 Jun 16. J Histochem Cytochem. 2006. PMID: 16782851

5

Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.

Schlotawa L, Steinfeld R, von Figura K, Dierks T, Gärtner J. Schlotawa L, et al. Among authors: steinfeld r. Hum Mutat. 2008 Jan;29(1):205. doi: 10.1002/humu.9515. Hum Mutat. 2008. PMID: 18157819

6

Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis.

Pal A, Kraetzner R, Gruene T, Grapp M, Schreiber K, Grønborg M, Urlaub H, Becker S, Asif AR, Gärtner J, Sheldrick GM, Steinfeld R. Pal A, et al. Among authors: steinfeld r. J Biol Chem. 2009 Feb 6;284(6):3976-84. doi: 10.1074/jbc.M806947200. Epub 2008 Nov 26. J Biol Chem. 2009. PMID: 19038966 Free article.

7

RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.

Henneke M, Diekmann S, Ohlenbusch A, Kaiser J, Engelbrecht V, Kohlschütter A, Krätzner R, Madruga-Garrido M, Mayer M, Opitz L, Rodriguez D, Rüschendorf F, Schumacher J, Thiele H, Thoms S, Steinfeld R, Nürnberg P, Gärtner J. Henneke M, et al. Among authors: steinfeld r. Nat Genet. 2009 Jul;41(7):773-5. doi: 10.1038/ng.398. Epub 2009 Jun 14. Nat Genet. 2009. PMID: 19525954

8

Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.

Reinhardt K, Grapp M, Schlachter K, Brück W, Gärtner J, Steinfeld R. Reinhardt K, et al. Among authors: steinfeld r. Clin Genet. 2010 Jan;77(1):79-85. doi: 10.1111/j.1399-0004.2009.01285.x. Epub 2009 Oct 5. Clin Genet. 2010. PMID: 19807737

9

Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency.

Banka S, Blom HJ, Walter J, Aziz M, Urquhart J, Clouthier CM, Rice GI, de Brouwer AP, Hilton E, Vassallo G, Will A, Smith DE, Smulders YM, Wevers RA, Steinfeld R, Heales S, Crow YJ, Pelletier JN, Jones S, Newman WG. Banka S, et al. Among authors: steinfeld r. Am J Hum Genet. 2011 Feb 11;88(2):216-25. doi: 10.1016/j.ajhg.2011.01.004. Am J Hum Genet. 2011. PMID: 21310276 Free PMC article.

10

Cerebral folate deficiency: a neurometabolic syndrome?

Mangold S, Blau N, Opladen T, Steinfeld R, Wessling B, Zerres K, Häusler M. Mangold S, et al. Among authors: steinfeld r. Mol Genet Metab. 2011 Nov;104(3):369-72. doi: 10.1016/j.ymgme.2011.06.004. Epub 2011 Jun 14. Mol Genet Metab. 2011. PMID: 21737328

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