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Human Fibroblast Cell Lines Heterozygous for Glucocerebrosidase (GBA1) Mutation N370S for the Study of Neurodegenerative Disorders and their Treatments

This technology includes six cell lines for the study of Glucocerebrosidase (GBA1) mutations which could be used for the evaluation and eventual treatments for conditions such as Gaucher's disease and Parkinson's disease. GBA1 is a lysosomal enzyme, responsible for breakdown of a fatty material called glucocerebroside (or glucosyl ceramide). Deficiency...

Published: 7/25/2024 | Inventor(s): Grisel Lopez, Barbara Stubblefield, Ellen Sidransky

Keywords(s): Cell, Fibroblast, GBA1, GLUCOCEREBROSIDASE, HETEROZYGOUS, Human, Lines, MUTATION, N370S, VEXXXX, WIXXXX, XEXXXX

Category(s): Application > Therapeutics, TherapeuticArea > Neurology, Application > Research Materials

Fibroblast Cell Lines Homozygous for Glucocerebrosidase (GBA1) Mutation N370S for the Screening of Small Molecules for Gaucher Disease Treatment

This technology includes two human fibroblast cell lines be used to study the defects in GBA1 gene and protein and to screen small molecules for involvement in Gaucher disease. Glucocerebrosidase (GBA1 or GCase or beta-glucosidase) is a lysosomal enzyme, responsible for breakdown of a fatty material called glucocerebroside (or glucosyl ceramide). Deficiency...

Published: 7/25/2024 | Inventor(s): Barbara Stubblefield, Ellen Sidransky

Keywords(s): Cell, Fibroblast, GBA1, GLUCOCEREBROSIDASE, HOMOZYGOUS, Lines, Listed LPM Vepa as of 4/15/2015, MUTATION, N370S, Post LPM Assignment Set 20150420, Pre LPM working set 20150418, VPXXXX, WIXXXX, WKXXXX, XHXXXX

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

Simple, Rapid, and Sensitive Real-Time PCR Assays for Detecting Drug Resistance of HIV

This novel assay features real-time PCR reagents and methods for detecting drug-resistance related mutations in HIV, for newly diagnosed patients and those individuals currently receiving antiretroviral therapies. As the use of antiretroviral compounds to treat HIV infection proliferates, viruses adapt and evolve mutations limiting the efficacy of...

Published: 7/25/2024 | Inventor(s): Jonathan Lipscomb, Walid Heneine, Jeffrey Johnson

Keywords(s): 1, ANTIVIRAL, Anti-Viral, ASSAYS, CDC Docket Import, CDC Docket Import CDC Prosecuting, DA4XXX, DAXXXX, DETECTING, DRUGS, DXXXXX, HIV, HIV-1, Listed LPM Houze as of 4/15/2015, MUTATION, NCHHSTP-DHPSE, OID-NCHHSTP-DHPSE, PCR, POINT, Post LPM Assignment Set 20150420, Pre LPM working set 20150418, REAL-TIME, Resistance, VLXXXX, VPXXXX, WBXXXX, WFXXXX, XBXXXX, XCXXXX, XEXXXX, YBXXXX

Category(s): Collaboration Sought > Licensing, Application > Software / Apps, TherapeuticArea > Dental, TherapeuticArea > Ophthalmology, TherapeuticArea > Endocrinology, Application > Occupational Safety and Health, Application > Therapeutics, Application > Diagnostics, TherapeuticArea > Oncology, Application > Research Materials, ResearchProducts > Computational models/software, Application > Consumer Products, TherapeuticArea > Cardiology, TherapeuticArea > Infectious Disease

Generation of Artificial Mutation Controls for Diagnostic Testing

This technology relates to a method of generating artificial compositions that can be used as positive controls in a genetic testing assay, such as a diagnostic assay for a particular genetic disease. Such controls can be used to confirm the presence or absence of a particular genetic mutation. The lack of easily accessible, validated mutant controls...

Published: 7/25/2024 | Inventor(s): Laurina Williams

Keywords(s): AA1XXX, AA5XXX, AA6XXX, AAXXXX, ARTIFICIAL, AXXXXX, CA1AXX, CA1CXX, CA1XXX, CAXXXX, controls, CXXXXX, diagnostic, GAXXXX, GCXXXX, GXXXXX, IA1BXX, IA2XXX, IA3XXX, IA5XXX, IAXXXX, IXXXXX, MUTATION, NA2XXX, OA2XXX, TESTING, VPXXXX, WBXXXX, WHXXXX, WIXXXX, WMXXXX, XBXXXX, XCXXXX, XEXXXX, YAXXXX, YBXXXX

Category(s): Collaboration Sought > Licensing, Application > Software / Apps, Application > Diagnostics, TherapeuticArea > Dermatology, TherapeuticArea > Immunology, TherapeuticArea > Pulmonology, Application > Research Materials, TherapeuticArea > Ophthalmology, TherapeuticArea > Dental, Application > Therapeutics, TherapeuticArea > Endocrinology, Application > Consumer Products, TherapeuticArea > Oncology, TherapeuticArea > Neurology, ResearchProducts > Computational models/software, TherapeuticArea > Cardiology, TherapeuticArea > Infectious Disease

A Mouse with a Targeted Mutation in the Uncoupling Protein-3 (upc3) Gene

The NIH announces the development of a transgenic mouse with a targeted mutation in the ucp3 gene. The ucp3 gene is implicated I the function of regulating energy metabolism. This regulatory function is thought to be accomplished by changing metabolic efficiency (causing energy expended as heat rather than used for ADP/ATP conversion) and/or by participating...

Published: 4/8/2024 | Inventor(s):

Keywords(s): AC5XXX, ACXXXX, Animal Model, AXXXXX, BAXXXX, Gene, Mouse, MUTATION, Protein-3, Q fever, Targeted, UCP3, Uncoupling

Category(s): Collaboration Sought > Licensing, ResearchProducts > Animal Models

Attenuated Human Parainfluenza Virus (PIV) for Use as Live, Attenuated Vaccines and as Vector Vaccines

The identified technologies describe self-replicating infectious recombinant paramyxoviruses with one or more attenuating mutations, such as a separate variant polynucleotide encoding a P protein and a separate monocistronic polynucleotide encoding a V protein, or at least one temperature sensitive mutation and one non-temperature sensitive mutation....

Published: 7/25/2024 | Inventor(s): Peter Collins, Sheila Nolan, Mario Skiadopoulos, Brian Murphy

Keywords(s): cDNA, CIS-ACTING, Complete, DC5BXX, DC5XXX, DCXXXX, Determination, DXXXXX, FOR..., FRAMES, Gene, Generate, Generation, Genomic, HPIV2, HPIV2., HPIV2/V94, Identification, MEASLES, Mumps, MUTATION, Novel, Nucleotide, Overlapping, P/V, Parainfluenza virus type 3, Parainfluenza virus type 3; Human parainfluenza virus type 3, Reading, recombinant, rHPIV2, Separated, sequence, Strain, UA1XXX, USEFUL, V94

Category(s): Collaboration Sought > Collaboration, Collaboration Sought > Licensing, TherapeuticArea > Rare / Neglected Diseases, Application > Vaccines, TherapeuticArea > Infectious Disease