Schnabel D - Search Results

1

Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene.

Schnabel D, Schröder M, Fürst W, Klein A, Hurwitz R, Zenk T, Weber J, Harzer K, Paton BC, Poulos A, et al. Schnabel D, et al. J Biol Chem. 1992 Feb 15;267(5):3312-5. J Biol Chem. 1992. PMID: 1371116 Free article.

2

Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease.

Schnabel D, Schröder M, Sandhoff K. Schnabel D, et al. FEBS Lett. 1991 Jun 17;284(1):57-9. doi: 10.1016/0014-5793(91)80760-z. FEBS Lett. 1991. PMID: 2060627 Free article.

3

A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB.

Schröder M, Schnabel D, Suzuki K, Sandhoff K. Schröder M, et al. Among authors: schnabel d. FEBS Lett. 1991 Sep 23;290(1-2):1-3. doi: 10.1016/0014-5793(91)81211-p. FEBS Lett. 1991. PMID: 1915858 Free article.

4

The organization of the gene for the human cerebroside sulfate activator protein.

Holtschmidt H, Sandhoff K, Fürst W, Kwon HY, Schnabel D, Suzuki K. Holtschmidt H, et al. Among authors: schnabel d. FEBS Lett. 1991 Mar 25;280(2):267-70. doi: 10.1016/0014-5793(91)80308-p. FEBS Lett. 1991. PMID: 2013321 Free article.

5

Molecular genetics of GM2-gangliosidosis AB variant: a novel mutation and expression in BHK cells.

Schröder M, Schnabel D, Hurwitz R, Young E, Suzuki K, Sandhoff K. Schröder M, et al. Among authors: schnabel d. Hum Genet. 1993 Nov;92(5):437-40. doi: 10.1007/BF00216446. Hum Genet. 1993. PMID: 8244332

6

Metabolism of glycolipids: the role of glycolipid-binding proteins in the function and pathobiochemistry of lysosomes.

Sandhoff K, van Echten G, Schröder M, Schnabel D, Suzuki K. Sandhoff K, et al. Among authors: schnabel d. Biochem Soc Trans. 1992 Aug;20(3):695-9. doi: 10.1042/bst0200695. Biochem Soc Trans. 1992. PMID: 1426613 Review. No abstract available.

7

Characterization of full-length cDNAs and the gene coding for the human GM2 activator protein.

Klima H, Tanaka A, Schnabel D, Nakano T, Schröder M, Suzuki K, Sandhoff K. Klima H, et al. Among authors: schnabel d. FEBS Lett. 1991 Sep 9;289(2):260-4. doi: 10.1016/0014-5793(91)81084-l. FEBS Lett. 1991. PMID: 1915857 Free article.

8

Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease.

Koch J, Gärtner S, Li CM, Quintern LE, Bernardo K, Levran O, Schnabel D, Desnick RJ, Schuchman EH, Sandhoff K. Koch J, et al. Among authors: schnabel d. J Biol Chem. 1996 Dec 20;271(51):33110-5. doi: 10.1074/jbc.271.51.33110. J Biol Chem. 1996. PMID: 8955159 Free article.

9

Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.

Lorenz-Depiereux B, Benet-Pages A, Eckstein G, Tenenbaum-Rakover Y, Wagenstaller J, Tiosano D, Gershoni-Baruch R, Albers N, Lichtner P, Schnabel D, Hochberg Z, Strom TM. Lorenz-Depiereux B, et al. Among authors: schnabel d. Am J Hum Genet. 2006 Feb;78(2):193-201. doi: 10.1086/499410. Epub 2005 Dec 9. Am J Hum Genet. 2006. PMID: 16358215 Free PMC article.

10

Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets.

Lorenz-Depiereux B, Schnabel D, Tiosano D, Häusler G, Strom TM. Lorenz-Depiereux B, et al. Among authors: schnabel d. Am J Hum Genet. 2010 Feb 12;86(2):267-72. doi: 10.1016/j.ajhg.2010.01.006. Epub 2010 Feb 4. Am J Hum Genet. 2010. PMID: 20137773 Free PMC article.

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