Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy
- 30 January 1990
- journal article
- Published by Elsevier BV in Biochemical and Biophysical Research Communications
- Vol. 166 (2), 1017-1023
- https://doi.org/10.1016/0006-291x(90)90912-7
Abstract
No abstract availableKeywords
This publication has 10 references indexed in Scilit:
- Molecular cloning of a human co-β-glucosidase cDNA: Evidence that four sphingolipid hydrolase activator proteins are encoded by single genes in humans and ratsGenomics, 1989
- Structure of Full-Length cDNA Coding for Sulfatide Activator, a Co-β-Glucosidase and Two Other Homologous Proteins: Two Alternate Forms of the Sulfatide Activator1The Journal of Biochemistry, 1989
- The Precursor of Sulfatide Activator Protein is Processed to Three Different ProteinsBiological Chemistry Hoppe-Seyler, 1988
- Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extractionAnalytical Biochemistry, 1987
- Immunochemical Characterization of Two Activator Proteins Stimulating Enzymic Sphingomyelin Degradation in vitro Absence of One of them in a Human Gaucher Disease VariantBiological Chemistry Hoppe-Seyler, 1986
- An endogenous activator protein in human placenta for enzymatic degradation of glucosylceramideBiochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism, 1985
- The gene coding for a sphingolipid activator protein, SAP-1, is on human chromosome 10Human Genetics, 1985
- Activator protein-deficient metachromatic leukodystrophy: Diagnosis in leukocytes using immunologic methodsThe Journal of Pediatrics, 1984
- METACHROMATIC LEUKODYSTROPHY WITHOUT ARYLSULFATASE A DEFICIENCYPediatric Research, 1979
- Eine Cerebrosidsulfatase aus SchweineniereHoppe-Seyler´s Zeitschrift für physiologische Chemie, 1964