Steinfeld R - Search Results

1

Cln5 represents a new type of cysteine-based S-depalmitoylase linked to neurodegeneration.

Luebben AV, Bender D, Becker S, Crowther LM, Erven I, Hofmann K, Söding J, Klemp H, Bellotti C, Stäuble A, Qiu T, Kathayat RS, Dickinson BC, Gärtner J, Sheldrick GM, Krätzner R, Steinfeld R. Luebben AV, et al. Among authors: steinfeld r. Sci Adv. 2022 Apr 15;8(15):eabj8633. doi: 10.1126/sciadv.abj8633. Epub 2022 Apr 15. Sci Adv. 2022. PMID: 35427157 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

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

4

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

5

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.

6

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

7

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.

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

Structure and activity of the only human RNase T2.

Thorn A, Steinfeld R, Ziegenbein M, Grapp M, Hsiao HH, Urlaub H, Sheldrick GM, Gärtner J, Krätzner R. Thorn A, et al. Among authors: steinfeld r. Nucleic Acids Res. 2012 Sep 1;40(17):8733-42. doi: 10.1093/nar/gks614. Epub 2012 Jun 26. Nucleic Acids Res. 2012. PMID: 22735700 Free PMC article.

10

Choroid plexus transcytosis and exosome shuttling deliver folate into brain parenchyma.

Grapp M, Wrede A, Schweizer M, Hüwel S, Galla HJ, Snaidero N, Simons M, Bückers J, Low PS, Urlaub H, Gärtner J, Steinfeld R. Grapp M, et al. Among authors: steinfeld r. Nat Commun. 2013;4:2123. doi: 10.1038/ncomms3123. Nat Commun. 2013. PMID: 23828504 Free article.

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