Harzer K - 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. Among authors: harzer k. J Biol Chem. 1992 Feb 15;267(5):3312-5. J Biol Chem. 1992. PMID: 1371116 Free article.

A severe case of sphingolipid storage disease that led to death within 16 weeks was attributed to a possible total deficiency of the SAPs generated by this gene (Harzer, K., Paton, B. C., Poulos, A., Kustermann-Kuhn, B., Roggendorf, W., Grisar, T., and Popp, M. (198 …

A severe case of sphingolipid storage disease that led to death within 16 weeks was attributed to a possible total deficiency of the SAPs ge …

2

Metabolism of GM1 ganglioside in cultured skin fibroblasts: anomalies in gangliosidoses, sialidoses, and sphingolipid activator protein (SAP, saposin) 1 and prosaposin deficient disorders.

Schmid B, Paton BC, Sandhoff K, Harzer K. Schmid B, et al. Among authors: harzer k. Hum Genet. 1992 Jul;89(5):513-8. doi: 10.1007/BF00219176. Hum Genet. 1992. PMID: 1634229

3

Additional biochemical findings in a patient and fetal sibling with a genetic defect in the sphingolipid activator protein (SAP) precursor, prosaposin. Evidence for a deficiency in SAP-1 and for a normal lysosomal neuraminidase.

Paton BC, Schmid B, Kustermann-Kuhn B, Poulos A, Harzer K. Paton BC, et al. Among authors: harzer k. Biochem J. 1992 Jul 15;285 ( Pt 2)(Pt 2):481-8. doi: 10.1042/bj2850481. Biochem J. 1992. PMID: 1637339 Free PMC article.

4

Sphingolipid activator protein 1 deficiency in metachromatic leucodystrophy with normal arylsulphatase A activity. A clinical, morphological, biochemical, and immunological study.

Schlote W, Harzer K, Christomanou H, Paton BC, Kustermann-Kuhn B, Schmid B, Seeger J, Beudt U, Schuster I, Langenbeck U. Schlote W, et al. Among authors: harzer k. Eur J Pediatr. 1991 Jun;150(8):584-91. doi: 10.1007/BF02072213. Eur J Pediatr. 1991. PMID: 1683286

5

Immunocytochemical localization of sphingolipid activator protein 2 (SAP-2) in normal and SAP-deficient fibroblasts.

Paton BC, Hughes JL, Harzer K, Poulos A. Paton BC, et al. Among authors: harzer k. Eur J Cell Biol. 1990 Feb;51(1):157-64. Eur J Cell Biol. 1990. PMID: 2109697

6

Sphingolipid activator protein deficiency in a 16-week-old atypical Gaucher disease patient and his fetal sibling: biochemical signs of combined sphingolipidoses.

Harzer K, Paton BC, Poulos A, Kustermann-Kuhn B, Roggendorf W, Grisar T, Popp M. Harzer K, et al. Eur J Pediatr. 1989 Oct;149(1):31-9. doi: 10.1007/BF02024331. Eur J Pediatr. 1989. PMID: 2514102 Review.

7

Further evidence that human lysosomal sialidase is not derived from prosaposin. Prosaposin biosynthesis and ganglioside sialidase studies in prosaposin- and sialidase-deficient fibroblast lines.

Paton BC, Schneider-Jakob HR, Kopitz J, Harzer K, Poulos A, Cantz M. Paton BC, et al. Among authors: harzer k. Biol Chem Hoppe Seyler. 1994 Jan;375(1):25-9. doi: 10.1515/bchm3.1994.375.1.25. Biol Chem Hoppe Seyler. 1994. PMID: 8003252

8

Sphingolipid activator protein D (sap-D) stimulates the lysosomal degradation of ceramide in vivo.

Klein A, Henseler M, Klein C, Suzuki K, Harzer K, Sandhoff K. Klein A, et al. Among authors: harzer k. Biochem Biophys Res Commun. 1994 May 16;200(3):1440-8. doi: 10.1006/bbrc.1994.1612. Biochem Biophys Res Commun. 1994. PMID: 8185598

9

Sulfatide activator protein. Alternative splicing that generates three mRNAs and a newly found mutation responsible for a clinical disease.

Holtschmidt H, Sandhoff K, Kwon HY, Harzer K, Nakano T, Suzuki K. Holtschmidt H, et al. Among authors: harzer k. J Biol Chem. 1991 Apr 25;266(12):7556-60. J Biol Chem. 1991. PMID: 2019586 Free article.

10

Prosaposin deficiency: further characterization of the sphingolipid activator protein-deficient sibs. Multiple glycolipid elevations (including lactosylceramidosis), partial enzyme deficiencies and ultrastructure of the skin in this generalized sphingolipid storage disease.

Bradová V, Smíd F, Ulrich-Bott B, Roggendorf W, Paton BC, Harzer K. Bradová V, et al. Among authors: harzer k. Hum Genet. 1993 Sep;92(2):143-52. doi: 10.1007/BF00219682. Hum Genet. 1993. PMID: 8370580

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

161 results

Search Page

Filters