A Mouse Model of Multiple Endocrine Neoplasia, Type I

The current invention embodies a mouse model which is heterozygous for a null allele at the Men1 locus of murine chromosome 19. Men1 has similar exon-intron organization and amino acid identity compared with its human analog MEN1, which has been implicated in the pathogenesis of multiple endocrine neoplasia, type I (MENI). This mouse model has been shown to develop features remarkably similar to those of MEN1, which include tumors of the endocrine pancreas, pituitary, and parathyroids.

Clonal Spodoptera Frugiperda Cell lines for Enhanced Expression

This technology includes Spodoptera frugiperda (Sf9) cells which were developed to produce recombinant adeno-associated virus. The cells maintain a copy of the vector genome and for production, require infection with a single baculovirus that expresses either structural and nonstructural proteins to produce rAAV, or the non-structural (Rep) proteins to produce ceDNA.

Mouse Models of Cryopyrin-Associated Periodic Syndrome (CAPS) for Drug Discovery

This technology includes mouse models that express versions of mouse cryopyrin protein containing mutations associated with human CAPS disease. We engineered mutations associated with three specific CAPS phenotypes (familial cold autoinflammatory syndrome (FCAS); Muckle-Wells syndrome (MWS); and neonatal onset multisystem inflammatory disease (NOMID)) into the mouse cryopyrin gene (called Nlrp3) to examine the roles of IL-1 β and related cytokines, and better characterize inflammasome functions.

Farnesyltransferase Inhibitors for Treatment of Laminopathies, Cellular Aging and Atherosclerosis

Hutchinson-Gilford Progeria Syndrome (HGPS) is a very rare progressive childhood disorder characterized by premature aging (progeria). Recently, the gene responsible for HGPS was identified (Eriksson M, et al. Nature 2003), and HGPS joined a group of syndromes — the laminopathies — all of which are caused by various mutations in the lamin A/C gene (LMNA). Lamin A is one of the family of proteins that is modified post-translationally by the addition of a farnesyl group.

Monoclonal Antibody to the Protein NCOA6 (also called ASC-2, AIB-3)

The invention relates to monoclonal antibodies that bind to the transcription factor NCOA6 (ASC-2, AIB-3, TRB, TRAP250, NRC). The antibodies have proven successful reagents for Western blotting and for purifying complexes containing NCOA6. The Western blot experiments revealed that NCOA6 is over-expressed in several breast cancer cell lines, and the purification experiments identified a protein complex containing NCOA6 (the ASCOM complex). The monoclonal antibodies may be useful reagents for studying the role of NCOA6 in transcription and for studying the ASCOM complex.

Methods and Materials for Identifying Polymorphic Variants, Diagnosing Susceptibilities, and Treating Disease

This invention relates to materials and methods associated with polymorphic variants in two enzymes involved in folate-dependent and one-carbon metabolic pathways important in pregnancy-related complications and neural tube birth defects: MTHFD1 (5,10-methylenetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase, 10-formyltetrahydrofolate synthase) and methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like (MTHFD1L). These enzymes are extremely important in the promotion of DNA synthesis, a process that is critical for normal placental and fetal development.

Device and Method for Direct Measurement of Isotopes of Expired Gases: Application in Research of Metabolism and Metabolic Disorders, and in Medical Screening and Diagnostics

The technology offered for licensing and for further development concerns a novel device for intervallic collection of expired gas from subjects and subsequent measurement of the isotopic content of such expired gases. The device is specifically designed for medical research and clinical applications, and in particular in the area of metabolic disorders. The device may facilitate the development and testing of new therapies for such disorders and may be used for medical screening and diagnostics of metabolic diseases.

Model Cell Lines With and Without AKT1 Mutations Derived from Proteus Syndrome Patients

The Proteus syndrome is a congenital disorder characterized by patchy overgrowth and hyperplasia (cell proliferation) of multiple tissues and organs, along with susceptibility to developing tumors. It is a rare disorder, with incidence of less than one case per million, caused by a somatic mutation. It is also a mosaic disorder, that is one in which cells of the same person have different genetic content from one another.

Glucocerebrosidase Non-inhibitory Chaperones for the Treatment of Gaucher Disease, Parkinson's Disease, and Other Proteinopathies

Gaucher disease is a rare lysosomal storage disease that is characterized by a loss of function of the glucocerebrosidase (GCase) enzyme, which results in a decreased ability to degrade its lipid substrate, glucocerebroside. The intracellular build up of this lipid causes a broad range of clinical manifestations, ranging from enlarged spleen/liver and anemia to neurodegeneration. In Gaucher disease, the loss of GCase function has been attributed to low levels of the protein in the lysosomal compartment, resulting from improper GCase folding and transport.
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