Abstract: The invention provides compositions and methods for the study, diagnosis, and treatment of Huntington's disease. Compositions comprise stably transfected cell lines that serve as a cellular model for Huntington's disease, sequences corresponding to an antigen associated with Huntington's disease, and monoclonal antibodies that bind specifically to said antigen. The stably transfected cell lines of the invention express truncated mutant huntingtin protein and display cellular defects similar to those observed in cells of patients with Huntington's disease. A method is provided wherein these cell lines are used to screen for therapeutic agents for the treatment of Huntington's disease. The monoclonal antibodies of the invention find use in a diagnostic assay for Huntington's disease.

Abstract: Proteins which specifically bind to huntingtin, the product of the Huntington's Disease locus (HD), are used in assays for screening drug candidates. These proteins, termed huntingtin associated proteins, bind to huntingtins of both normal and Huntington's Disease patients. However, the binding is stronger to the huntingtins from the patients. The strength of binding correlates with the number of glutamine repeats in the huntingtin, which itself correlates with the time of disease onset.

Abstract: An amiloride sensitive sodium channel (ENAC) has been localized to the epithelium of tongue, including taste tissue. This discovery provides a method of identifying substances which stimulate or block salty taste in mammals. Alternatively spliced forms have also been identified.

Abstract: The present invention is directed to a novel von Ebner's gland secreted protein, designated Ebnerin, which is formed in the ducts of von Ebner's gland and secreted into fluid bathing the taste buds contained in the taste papillae. Ebnerin has been identified by isolation of a rat cDNA encoding a novel secreted protein of 1290 amino acids.