Search Results - "Schnabel, Doris"

  • Showing 1 - 16 results of 16
Refine Results
  1. 1
  2. 2

    Characterization of full-length cDNAs and the gene coding for the human GM2 activator protein by Klima, Horst, Tanaka, Akemi, Schnabel, Doris, Nakano, Takeshi, Schröder, Maria, Suzuki, Kunihiko, Sandhoff, Konrad

    Published in FEBS letters (09-09-1991)
    “…Full-length cDNAs coding for the human GM2-activator protein has been isolated and characterized, and its genomic structure studied in two overlapping clones…”
    Get full text
    Journal Article
  3. 3

    The organization of the gene for the human cerebroside sulfate activator protein by Holtschmidt, Hans, Sandhoff, Konrad, Fürst, Werner, Kwon, Hae Young, Schnabel, Doris, Suzuki, Kunihiko

    Published in FEBS letters (25-03-1991)
    “…The organization of 14 exons covering 97% of the cDNA sequence of human cerebroside sulfate activator protein precursor has been determined from two…”
    Get full text
    Journal Article
  4. 4

    Molecular Cloning and Characterization of a Full-length Complementary DNA Encoding Human Acid Ceramidase by Koch, Jürgen, Gärtner, Sabine, Li, Chi-Ming, Quintern, Lothar E., Bernardo, Katussevani, Levran, Orna, Schnabel, Doris, Desnick, Robert J., Schuchman, Edward H., Sandhoff, Konrad

    Published in The Journal of biological chemistry (20-12-1996)
    “…Human acid ceramidase ((AC) N-acylsphingosine amidohydrolase, EC 3.5.1.23) hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid. Ceramide…”
    Get full text
    Journal Article
  5. 5

    Human Osteoblast-Like Cells Express Predominantly Steroid 5α-Reductase Type 1 by Issa, Sedika, Schnabel, Doris, Feix, Maritta, Wolf, Lutz, Schaefer, Hans-Eckart, Russell, David W., Schweikert, Hans-Udo

    “…In previous studies we established that human bone and human osteoblast-like cells (hOB cells) cultured from bone express 5α-reductase (5α-R) activity, as…”
    Get full text
    Journal Article
  6. 6

    Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease by Koch, J, Gärtner, S, Li, C M, Quintern, L E, Bernardo, K, Levran, O, Schnabel, D, Desnick, R J, Schuchman, E H, Sandhoff, K

    Published in The Journal of biological chemistry (20-12-1996)
    “…Human acid ceramidase ((AC) N-acylsphingosine amidohydrolase, EC 3.5. 1.23) hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid. Ceramide…”
    Get full text
    Journal Article
  7. 7

    Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease by Schnabel, Doris, Schröder, Maria, Sandhoff, Konrad

    Published in FEBS letters (17-06-1991)
    “…The lysosomal degradation of glucosylceramide requires the hydrolase, glucosylceramide-β-glucosidase and a sphingolipid activator protein (Gaucher factor,…”
    Get full text
    Journal Article
  8. 8

    Human osteoblast-like cells express predominantly steroid 5alpha-reductase type 1 by Issa, Sedika, Schnabel, Doris, Feix, Maritta, Wolf, Lutz, Schaefer, Hans-Eckart, Russell, David W, Schweikert, Hans-Udo

    “…In previous studies we established that human bone and human osteoblast-like cells (hOB cells) cultured from bone express 5alpha-reductase (5alpha-R) activity,…”
    Get full text
    Journal Article
  9. 9

    Functional activity of CD44 isoforms in haemopoiesis of the rat by Khaldoyanidi, Sophia, Schnabel, Doris, Föhr, Nicole, Zöller, Margot

    Published in British journal of haematology (01-01-1997)
    “…Expression of CD44 is involved in the maturation as well as the homing of haemopoietic progenitor cells. Whether these processes are mediated by CD44 standard…”
    Get full text
    Journal Article
  10. 10

    Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene by SCHNABEL, D, SCHRODER, M, SANDHOFF, K, FÜRST, W, KLEIN, A, KURWITZ, R, ZENK, T, WEBER, J, HARZER, K, PATON, B. C, SUZUKI, K

    Published in The Journal of biological chemistry (15-02-1992)
    “…Sphingolipid activator proteins (SAPs) are small, nonenzymic glycoproteins that stimulate lysosomal degradation of various sphingolipids. SAP-1, SAP-2, and two…”
    Get full text
    Journal Article
  11. 11

    Complete Androgen Insensitivity Caused by a New Frameshift Deletion of Two Base Pairs in Exon 1 of the Human Androgen Receptor Gene1 by Thiele, Brigitta, Weidemann, Wolfgang, Schnabel, Doris, Romalo, Gabriela, Schweikert, Hans-Udo, Spindler, Klaus-Dieter

    “…We describe a novel mutation in exon 1 of the androgen receptor gene in a patient with complete androgen insensitivity (CAIS). Endocrine findings were typical…”
    Get full text
    Journal Article
  12. 12

    Complete androgen insensitivity caused by a new frameshift deletion of two base pairs in exon 1 of the human androgen receptor gene by Thiele, B, Weidemann, W, Schnabel, D, Romalo, G, Schweikert, H U, Spindler, K D

    “…We describe a novel mutation in exon 1 of the androgen receptor gene in a patient with complete androgen insensitivity (CAIS). Endocrine findings were typical…”
    Get full text
    Journal Article
  13. 13
  14. 14

    A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB by Schröder, Maria, Schnabel, Doris, Suzuki, Kunihiko, Sandhoff, Konrad

    Published in FEBS letters (23-09-1991)
    “…GM2-gangliosidoses are neurological disorders caused by a genetic deficiency of either the β-hexosaminidase A or the GM2 activator, a glycolipid binding…”
    Get full text
    Journal Article
  15. 15

    Molecular genetics of GM2-gangliosidosis AB variant : a novel mutation and expression in BHK cells by SCHRÖDER, M, SCHNABEL, D, HURWITZ, R, YOUNG, E, SUZUKI, K, SANDHOFF, K

    Published in Human genetics (01-11-1993)
    “…The GM2 activator is a hexosaminidase A-specific glycolipid-binding protein required for the lysosomal degradation of ganglioside GM2. Genetic deficiency of…”
    Get full text
    Journal Article
  16. 16

    El pastor-poeta: Fernando de Herrera y la tradicion lirica pastoril en el primer siglo aureo by Schnabel, Doris Raquel

    Published 01-01-1994
    “…Taking into consideration Fernando de Herrera's comments on Garcilaso's Eclogues, the present study involves a detailed commentary on Herrera's and Hernando de…”
    Get full text
    Dissertation