Insertion in the mRNA of a metachromatic leukodystrophy patient with sphingolipid activator protein-1 deficiency.

Molecular Cloning: A Laboratory Manual

2001 • 133,517 citations

DNA sequencing with chain-terminating inhibitors

1977 • 69,181 citations

A simple method for displaying the hydropathic character of a protein

1982 • 22,471 citations

AB variant of infantile GM2 gangliosidosis: deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside GM2 and glycolipid GA2.

1978 • 274 citations

Coding of Two Sphingolipid Activator Proteins (SAP-1 and SAP-2) by Same Genetic Locus

1988 • 251 citations

Enzymes of Lipid Metabolism II

1986 • 208 citations

Biosynthesis and molecular cloning of sulfated glycoprotein 1 secreted by rat Sertoli cells: sequence similarity with the 70-kilodalton precursor to sulfatide/GM1 activator

1988 • 166 citations

Immunochemical Characterization of Two Activator Proteins Stimulating Enzymic Sphingomyelin Degradation in vitro Absence of One of them in a Human Gaucher Disease Variant

1986 • 164 citations

Structure of Full-Length cDNA Coding for Sulfatide Activator, a Co-β-Glucosidase and Two Other Homologous Proteins: Two Alternate Forms of the Sulfatide Activator1

1989 • 134 citations

Saposin A: second cerebrosidase activator protein.

1989 • 126 citations

METACHROMATIC LEUKODYSTROPHY WITHOUT ARYLSULFATASE A DEFICIENCY

1979 • 119 citations

The Precursor of Sulfatide Activator Protein is Processed to Three Different Proteins

1988 • 114 citations

Saposin D: A sphingomyelinase activator

1988 • 111 citations

Uroporphyrinogen Decarboxylase Structural Mutant (Gly281→Glu) in a Case of Porphyria

1986 • 95 citations

Immunological evidence for deficiency in an activator protein for sulfatide sulfatase in a variant form of metachromatic leukodystrophy.

1983 • 81 citations

Biosynthesis of the sulfatide/GM1 activator protein (SAP-1) in control and mutant cultured skin fibroblasts

1986 • 73 citations

A variant form of metachromatic leukodystrophy without arylsulfatase deficiency

1982 • 66 citations

The gene coding for a sphingolipid activator protein, SAP-1, is on human chromosome 10

1985 • 61 citations

Synthesis and processing of sphingolipid activator protein-2 (SAP-2) in cultured human fibroblasts.

1986 • 59 citations

The activator protein for glucosylceramide beta-glucosidase from guinea pig liver. Improved isolation method and complete amino acid sequence.

1988 • 55 citations

One adenosine deaminase allele in a patient with severe combined immunodeficiency contains a point mutation abolishing enzyme activity.

1986 • 54 citations

Multiple abnormal beta-hexosaminidase alpha chain mRNAs in a compound-heterozygous Ashkenazi Jewish patient with Tay-Sachs disease.

1988 • 49 citations

Biochemical, immunological, and structural studies on a sphingolipid activator protein (SAP-1)

1984 • 47 citations

Clinical, pathological, and biochemical studies on an infantile case of sulfatide/G_M1 activator protein deficiency

1989 • 47 citations

Nucleotide sequence of cloned cDNA for human sphingolipid activator protein 1 precursor.

1987 • 41 citations

Assignment of the gene for human sphingolipid activator protein-2 (SAP-2) to chromosome 10.

1985 • 41 citations

Molecular cloning of the sphingolipid activator protein — 1 (SAP - 1), the sulfatide sulfatase activator

1986 • 37 citations

Activator protein-deficient metachromatic leukodystrophy: Diagnosis in leukocytes using immunologic methods

1984 • 19 citations

Complete Amino-Acid Sequence of the Naturally Occurring A₂Activator Protein for Enzymic Sphingomyelin Degradation: Identity to the Sulfatide Activator Protein (SAP-1)

1988 • 15 citations