Abstract: A novel protein profiling method of testing for Lysosomal Storage Diseases (“LSD”) using discovered normalized lysosomal fingerprint patterns. The fingerprint patterns reveal the health of lysosomal organelles, specific LSD, and clinical severity. Multiplexing bead technology for simultaneous screening of multiple LSD and normalizing measured enzyme activity or protein levels against other lysosomal proteins, enzymes, or enzyme activities. Compounds, reagents, and methods for identifying and quantifying multiple target enzymes and proteins.

Abstract: The present application discloses a method of generating bone tissue in vivo comprising implanting cells into a human or animal at a location where bone growth is required, wherein the cells have been obtained by the in vitro suspension culture of mesenchymal stem cells attached to microcarriers.

Abstract: A novel protein profiling method of testing for Lysosomal Storage Diseases (“LSD”) using discovered normalized lysosomal fingerprint patterns. The fingerprint patterns reveal the health of lysosomal organelles, specific LSD, and clinical severity. Multiplexing bead technology for simultaneous screening of multiple LSD and normalizing measured enzyme activity or protein levels against other lysosomal proteins, enzymes, or enzyme activities. Compounds, reagents, and methods for identifying and quantifying multiple target enzymes and proteins.

Abstract: A novel protein profiling method of testing for Lysosomal Storage Diseases (“LSD”) using discovered normalized lysosomal fingerprint patterns. The fingerprint patterns reveal the health of lysosomal organelles, specific LSD, and clinical severity Multiplexing bead technology for simultaneous screening of multiple LSD and normalizing measured enzyme activity or protein levels against other lysosomal proteins, enzymes, or enzyme activities. Compounds, reagents, and methods for identifying and quantifying multiple target enzymes and proteins.

Abstract: Multiplexing bead technology is used for simultaneous screening of multiple LSD and normalizing measured enzyme activity or protein levels against other lysosomal proteins, enzymes, or enzyme activities. Diagnostic compositions include microspheres conjugated to purified antibodies that specifically bind LSD target antigens: saposin, LAMP-1, ?-iduronidase, ?-glucosidase, ?-glucosidase, 2-sulphatase, 4-sulphatase, ?-galactosidase, sphingomyelinase, 3-sulphatase or sulphamidase. The target antigens are naturally present in biological fluids or tissues of either LSD or non-LSD patients.

Abstract: The invention provides methods of diagnosing or monitoring lysosomal storage disorders based on detecting levels of saposins, LAMPs and/or ?-glucosidase in patient sample. Elevated levels of saposins and/or LAMPs are indicative of a disorder. Elevated levels of ? glucosidase are indicative of some types of lysosomal storage disorders and decreased levels of ? glucosidase are indicative of other types of lysosomal storage disorder. In some methods, the profile of elevation of different saposins, LAMPs and ? glucosidase allows distinction between different types of lysosomal storage disorder.

Abstract: Methods for assaying a lysosomal enzyme activity present in a blood sample obtained from a patient. The method combines the blood or plasma sample in a buffer with at least one binding reagent capable of reacting with alpha-glucosidase present in the blood sample to form an enzyme reagent complex. The lysosomal enzyme activity present in the blood sample is then determined from the enzyme reagent complex formed and compared to a mean level of alpha-glucosidase in a control population of individuals not having a lysosomal storage disease.

Abstract: Multiplexing bead technology is used for simultaneous screening of multiple LSD and normalizing measured enzyme activity or protein levels against other lysosomal proteins, enzymes, or enzyme activities. Diagnostic compositions include microspheres conjugated to purified antibodies that specifically bind LSD target antigens: saposin, LAMP-1, ?-iduronidase, ?-glucosidase, ?-glucosidase, 2-sulphatase, 4-sulphatase, ?-galactosidase, sphingomyelinase, 3-sulphatase or sulphamidase. The target antigens are naturally present in biological fluids or tissues of either LSD or non-LSD patients.

Abstract: Chimeric carbohydrates produced by recombinant microorganism carrying exogenous glycosyl transferases act with or without exogenous enzymes required for synthesis or nucleotide synthesis precursors. These recombinant microorganism can be used as a means for competitively inhibiting the binding of toxins or adhesins to receptors of mucosal surfaces, especially gastrointestinal surface. In particular chimeric sugar moieties have been made for lipopolysaccharides, in recombinant microorganism that present multiple copies of the oligosaccharides. The oligosacchide moieties so presented act as receptor mimic for toxins and adhesins. A number have been synthesise and have been shown to confer protection against attack by pathogenic organisms or their products in vitro and an in vivo.

Abstract: Methods for assaying a lysosomal enzyme activity present in a blood sample obtained from a patient. The method combines the blood or plasma sample in a buffer with at least one binding reagent capable of reacting with alpha-glucosidase present in the blood sample to form an enzyme reagent complex. The lysosomal enzyme activity present in the blood sample is then determined from the enzyme reagent complex formed and compared to a mean level of alpha-glucosidase in a control population of individuals not having a lysosomal storage disease.

Abstract: Chimeric carbohydrates produced by recombinant microorganism carrying exogenous glycosyltransferases act with or without exogenous enzymes required for synthesis or nucleotide synthesis precursors. These recombinant microorganism can be used for competitively inhibiting the binding of toxins or adhesins to receptors of mucosal surfaces, especially gastrointestinal surface. In particular chimeric sugar moieties have been made for lipopolysaccharides, in recombinant microorganism that present multiple copies of the oligosaccharides. The oligosaccharide moieties so presented act as receptor mimic for toxins and adhesins. A number have been synthesized and have been shown to confer protection against attack by pathogenic organisms or their products in vitro and in vivo.

Abstract: The present invention relates generally to lysosomal storage disorders and to diagnostic agents for their detection in humans and other animals. More particularly, the present invention is directed to the uses of the LSD markers Lamp-1, Lamp-2, Limp-II, 4-sulphatase, acid phosphatase (ACP), &bgr;-hexasaminidase or &agr;-mannosidase, amongst others as diagnotic agents for the detection of many lysosomal storage disorders.

Abstract: The invention provides the nucleic acid sequence encoding the protein associated with familial Mediterranean fever (FMF). The cDNA sequence is designated as MEFV. The invention is also directed towards fragments of the DNA sequence, as well as the corresponding sequence for the RNA transcript and fragments thereof. Another aspect of the invention provides the amino acid sequence for a protein (pyrin) associated with FMF. The invention is directed towards both the full length amino acid sequence, fusion proteins containing the amino acid sequence and fragments thereof. The invention is also directed towards mutants of the nucleic acid and amino acid sequences associated with FMF. In particular, the invention discloses three missense mutations, clustered in within about 40 to 50 amino acids, in the highly conserved rfp (B30.2) domain at the C-terminal of the protein. These mutants include M6801, M694V, K695R, and V726A.

Abstract: The present invention provides a highly glycosylated iduronate-2-sulfatase enzyme comprising an iduronate-2-sulfatase polypeptide with at least 5 kilodalton (kDa) more sugar than iduronate-2-sulfatase purified from a natural source, e.g. human liver. The present invention also provides an enzymatically active polypeptide fragment or variant of such a highly glycosylated iduronate-2-sulfatase. The present invention further provides an isolated nucleic acid encoding iduronate-2-sulfatase, as well as an expression vector, a host cell and a method for producing the present highly glycosylated iduronate-2-sulfatase enzyme.

Abstract: The present invention relates generally to &agr;-L-iduronidase and to genetic sequences encoding same. More particularly, the present invention provides an isolated nucleic acid molecule comprising a sequence of nucleotides which encodes or are complementary to a sequence which encodes a mammalian &agr;-L-iduronidase or fragment or derivative thereof and to the recombinant enzyme encoded thereby. These molecules are useful in the investigation, diagnosis and treatment of subjects suspected of or suffering from &agr;-L-iduronidase deficiency.

Abstract: The present invention relates generally to mammalian sulphamidase and to genetic sequences encoding same and to the use of these in the investigation, diagnosis and treatment of subjects suspected of or suffering from sulphamidase deficiency.

Abstract: The present invention relates generally to mammalian sulphamidase and to genetic sequences encoding same and to the use of these in the investigation, diagnosis and treatment of subjects suspected of or suffering from sulphamidase deficiency.

Abstract: Method of treating or ameliorating symptoms of T-cell mediated disease wherein a composition comprising a therapeutically effective amount of a polyunsaturated fatty acid and a pharmaceutically acceptable carrier is administered to the patient. The polyunsaturated fatty acid contains 18-25 carbon atoms, 1-6 double bonds and has 1 or 2 substitutions selected from &bgr; oxa, &ggr; oxa, &bgr; thia and &ggr; thia, based on the fatty acid acyl carbon atom, or the polyunsaturated fatty acid contains 16-26 carbon atoms, 3-double bonds and is covalently coupled at the carboxylic acid group to an amino acid.

Abstract: The present invention relates generally to mammalian &agr;-N-acetyglucosaminidase and to genetic sequences encoding same and to their use in the investigation, diagnosis and treatment of subjects suspected of or suffering from &agr;-N-acetylglucosaminidase deficiency.

Abstract: The DNA sequence spanning the fragile X site on the X human chromosome has been obtained in purified and isolated form. As fragile X is associated with mental retardation, the availability of a DNA which spans this locus permits diagnosis and treatment of the related mental disorders. Polyclonal and monoclonal antibodies to an amino acid sequence encoded by SEQ ID NO:1, a DNA sequence from the Fragile X site, are also disclosed.