Abstract: The present invention provides, among other things, improved substrate clearance assays for lysosomal enzyme that are particularly useful for measuring potency of lysosomal enzymes or other therapeutics for treatment of lysosomal storage diseases. In particular, the present invention combines a physiologically relevant substrate cell assay and an efficient scintillation based detection method.

Abstract: The present invention provides, among other things, methods and compositions for determining enzyme kinetic parameters (e.g., Vmax, Km, and specific activity, etc.) indicative of clinically relevant properties of glucocerebrosidase using a physiologically relevant substrate, in particular, a substrate that is representative of substrates that typically accumulate in patients suffering from Gaucher disease such as glucosylceramide. Thus, the present invention is particularly useful to measure a kinetic parameter relating to the activity of glucocerebrosidase in a drug substance, drug product, and stability sample for enzyme replacement therapy.

Abstract: The present invention provides, among other things, methods and compositions for determining enzyme kinetic parameters (e.g., Vmax, Km, and specific activity, etc.) indicative of clinically relevant properties of glucocerebrosidase using a physiologically relevant substrate, in particular, a substrate that is representative of substrates that typically accumulate in patients suffering from Gaucher disease such as glucosylceramide. Thus, the present invention is particularly useful to measure a kinetic parameter relating to the activity of glucocerebrosidase in a drug substance, drug product, and stability sample for enzyme replacement therapy.

Abstract: In certain embodiments of the present invention, kinetic parameters of I2S enzyme are determined. In some instances, a sample including I2S enzyme is incubated under defined conditions, with a series of determined amounts of I2S substrate including a detectable label. Following incubation, the reaction mixture can be analyzed, e.g., by a method including chromatography. A detection unit can be used to measure the presence of the detectable label. Data can be analyzed to determine kinetic parameters.

Abstract: The present invention provides, among other things, improved substrate clearance assays for lysosomal enzyme that are particularly useful for measuring potency of lysosomal enzymes or other therapeutics for treatment of lysosomal storage diseases. In particular, the present invention combines a physiologically relevant substrate cell assay and an efficient scintillation based detection method.

Abstract: The present invention relates to novel compounds having a positive allosteric GÀBAB receptor (GDR) modulator effect, methods for the preparation of said compounds and to their use, optionally in combination with a GABAB agonist, for the inhibition of transient lower esophageal sphincter relaxations, for the treatment of gastroesophageal reflux disease, as well as for the treatment of functional gastrointestinal disorders and irritable bowel syndrome (IBS). A compound of the general formula I.

Abstract: The present invention relates to novel compounds having a positive allosteric GÀBAB receptor (GDR) modulator effect, methods for the preparation of said compounds and to their use, optionally in combination with a GABAB agonist, for the inhibition of transient lower esophageal sphincter relaxations, for the treatment of gastroesophageal reflux disease, as well as for the treatment of functional gastrointestinal disorders and irritable bowel syndrome (IBS).

Abstract: Novel DNA fragments encoding novel polypeptide having properties of melantropic hormone receptors, especially DNA fragments encoding melanocyte stimulating hormone receptors (MSH receptors), as well as polypeptide which are MSH receptors, are disclosed. The use and engineering of melanotropic hormone receptor DNA and polypeptide for production of monoclonal antibodies for diagnostic and therapeutic purposes, as well as the engineering of drugs, cell lines, vectors and DNA for therapeutic and diagnostic purposes are also disclosed. Also disclosed are methods for therapy and diagnosis of malignant melanoma, skin cancer, vitiligo, pyretic condition, inflammatory condition, nociceptive condition, catatonic condition, impaired memory condition, reduced or increased skin tanning, pigmentation condition, epilepsy and nerve damage, using the DNA fragments, polypeptide and antibodies. Methods for selecting substances which interact with the receptors are also disclosed.

Abstract: Novel DNA fragments encoding novel polypeptides having properties of melanotropic hormone receptors, especially DNA molecules encoding melanocyte stimulating hormone receptors (MSH receptors), as well as polypeptides which are MSH receptors, are disclosed. The use and engineering of melanotropic hormone receptor DNA and polypeptides for production of monoclonal antibodies for diagnostic and therapeutic purposes, as well as the engineering of drugs, cell lines, vectors, and DNA for therapeutic and diagnostic purposes are also disclosed.