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Mouse Model Created Using Glucocerebrosidase-Deficient Neuronal Cell Line to Study Gaucher Disease Pathophysiology and Evaluate New Therapies

This technology includes a high-yield, easy-to-culture mouse neuronal cell model with nearly complete glucocerebrosidase deficiency representative of Gaucher disease (GD) to study pathophysiology and evaluate new therapies. GD is an autosomal recessive lysosomal storage disorder caused by loss-of function mutations in the GBA1 gene, which codes for...

Published: 7/25/2024 | Inventor(s): Matthew Nguyen, Wendy Westbroek, Nahid Tayebi, Ellen Sidransky

Keywords(s): Cell, DEFICIENT, Disease, Gaucher, GLUCOCEREBROSIDASE, Line, Model, Mouse, NEURONAL, VEXXXX, VPXXXX, WIXXXX, XEXXXX

Category(s): TherapeuticArea > Neurology, Application > Research Materials, TherapeuticArea > Dental, Application > Therapeutics, TherapeuticArea > Oncology, TherapeuticArea > Endocrinology, TherapeuticArea > Ophthalmology, TherapeuticArea > Cardiology, TherapeuticArea > Infectious Disease

WNT1-Induced Secreted Protein-1 Knockout Mouse Model

WNT1-induced secreted protein-1 (WISP1) is expressed at high levels in osteoblasts and their precursors. WIPS1 plays an important role in various aspects of bone formation. Scientists at the NIH generated Wisp1-deficient (Wisp1-/-) mice. Deletion of Wisp1 resulted in a decrease in bone mineral density, total bone volume, bone thickness, and biomechanical...

Published: 7/25/2024 | Inventor(s): Azusa Maeda, Mitsuaki Ono, Marian Young

Keywords(s): DEFICIENT, Generation, Mice, OSTEOGENESIS, VAXXXX, VPXXXX, WISP1, WIXXXX, XCXXXX, XEXXXX, YCXXXX

Category(s): TherapeuticArea > Ophthalmology, Application > Therapeutics, TherapeuticArea > Dental, TherapeuticArea > Endocrinology, TherapeuticArea > Oncology, TherapeuticArea > Infectious Disease, TherapeuticArea > Cardiology, TherapeuticArea > Immunology, Application > Research Materials, TherapeuticArea > Geriatrics, Application > Diagnostics

Human DNA Polymerase Gamma for Testing the Effect of Drugs on Mitochondrial Function

One of the primary means for treating HIV infection is the use of antiviral nucleotide or nucleoside analogs. These analogs work by inhibiting the activity of reverse transcriptase, the enzyme responsible for preparing the HIV genome for integration into the DNA of the host cell. Although these analogs do not have an effect on the polymerases responsible...

Published: 7/25/2024 | Inventor(s): Rajesh Kasiviswanathan, Susan Lim, William Copeland

Keywords(s): CLONE, DDXXXX, DEFICIENT, Directed, DNA, DXXXXX, Enzyme, EXONUCLEASE, Expression, Gamma, Human, Improved, Includes, Listed LPM Campbell as of 4/15/2015, Method, Modifications, polymerase, Polymerase., Post LPM Assignment Set 20150420, Pre LPM working set 20150418, purification, recombinant, RXXXXX, SITE, TYPE, VLXXXX, Which, Wild, WIXXXX, XEXXXX, YBXXXX

Category(s): Collaboration Sought > Collaboration, Application > Research Materials, TherapeuticArea > Infectious Disease, Application > Therapeutics

RORgamma (RORC) Deficient Mice Which Are Useful for the Study of Lymph Node Organogenesis and Immune Responses

The retinoid-related orphan receptor gamma (RORgamma) is a member of the nuclear receptor superfamily. NIH investigators used homologous recombination in embryonic stem cells to generate mice in which the RORgamma gene was disrupted. RORgamma deficient mice lack peripheral and mesenteric lymph nodes and Peyer's patches indicating that ROR expression...

Published: 7/25/2024 | Inventor(s): Anton Jetten

Keywords(s): Autoimmune, DEFICIENT, Disease, IDXXXX, IMMUNE, IXXXXX, Mice, Responses, RORC, RORgamma, RXXXXX, TOOLS

Category(s): Collaboration Sought > Collaboration, Collaboration Sought > Licensing, Collaboration Sought > Materials Available, Application > Therapeutics, Application > Research Materials, Application > Diagnostics