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Presenilin-1, Nicastrin, Amyloid Precursor Protein, and γ-Secretase Activity Are Co-localized in the Lysosomal Membrane*
Alzheimer's disease (AD) is caused by the cerebral deposition of β-amyloid (Aβ), a 38–43-amino acid peptide derived by proteolytic cleavage of the amyloid precursor protein (APP). Initial studiesExpand
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Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C).
Mucopolysaccharidosis IIIC (MPS IIIC), or Sanfilippo C, represents the only MPS disorder in which the responsible gene has not been identified; however, the gene has been localized to theExpand
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The biochemistry and clinical features of galactosialidosis.
Galactosialidosis is a heterogeneous disorder that is manifested in infantile, late infantile, juvenile/adult, and atypical forms. In every instance the primary defect is in the ability of protectiveExpand
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Novel mutations (Asn 484 Lys, Thr 500 Ala, Gly 438 Glu) in Morquio B disease.
Primary deficiency of beta-galactosidase results in GM1 gangliosidosis and Morquio B disease. Of the more than 40 disease-causing mutations described in the Gal gene to date, about 75% are of theExpand
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Isolation, characterization, and mapping of a novel human KRAB zinc finger protein encoding gene ZNF463.
A novel human KRAB (Krüppel associated box) type zinc finger protein encoding gene, ZNF463, was obtained by mRNA differential display and RACE. It consists of 1904 nucleotides and encodes a proteinExpand
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Rapid and Sensitive Detection of Xanthomonas fragariae by Simple Alkaline DNA Extraction and the Polymerase Chain Reaction
Methods for DNA preparation from Xanthomonas fragariae in infected or artificially contaminated strawberry plants were compared in diagnostic assays using the polymerase chain reaction (PCR). TheExpand
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