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Longer-lived Mouse Models for Studying Gaucher Disease

The invention is a novel longer-lived mouse model for Gaucher disease. Gaucher disease is a genetic disorder that results from deficiencies in the enzyme glucocerebrosidase (GBA). The use of animal models to study how the disease progresses has been invaluable in research of this disorder. However, existing mouse models have been limited due to early...

Published: 7/25/2024 | Inventor(s): Mary Lamarca, Edward Ginns

Keywords(s): ANIMAL, DISORDERS, Gaucher, Gaucher Disease, Human, IDXXXX, Inherited, Models, RXXXXX, TRANSGENIC, VHXXXX, VPXXXX, WIXXXX, WJXXXX, WKXXXX, WMXXXX, XEXXXX

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

Stable, High-Yield Production of DT390-EGF Fusion Protein for Treatment of EGF-Receptor-Positive Cancers

This invention relates to the stable and high-yield production of a high-potency toxin protein called DT390-EGF. This toxin was developed for the treatment of EGF-receptor-positive cancers, including bladder cancer. Initial methods for synthesizing DT390-EGF relied on the use of E. coli. However, the production in E. coli was difficult to prepare and...

Published: 7/25/2024 | Inventor(s): Jung-hee Woo, David Neville, Arthur Frankel, Andrew Thorburn, Michael Glode, Thomas Flaig

Keywords(s): cancers, DT390-EGF, EGF, Fusion, POSITIVE, Protein, RECEPTOR, treatment, VCXXXX, WKXXXX, XEXXXX

Category(s): TherapeuticArea > Oncology, Application > Therapeutics

Murine Model of Niemann-Pick Disease Type C

This technology includes a transgenic mouse model of Niemann-Pick Disease Type C (NPC), which is a rare neurodegenerative disorder, characterized by intracellular accumulation of cholesterol and gangliosides. The mouse strain, Tg(Npcl), expresses wild-type NPC1 gene under the control of the prion promoter. When combined with the NPC deficient mouse...

Published: 7/25/2024 | Inventor(s): Stacie Loftus, William ("Bill") Pavan

Keywords(s): C, Disease, Listed LPM Maddox as of 4/15/2015, Model, Murine, NIEMANN-PICK, Post LPM Assignment Set 20150420, Pre LPM working set 20150418, RXXXXX, VEXXXX, VHXXXX, VNXXXX, VPXXXX, WIXXXX, WKXXXX, XEXXXX

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

Human Fibroblast Cell Lines with PMM2 Congenital Disorder of Glycosylation for Therapeutic Development

Congenital disorders of glycosylation (CDGs) are inherited disorders of abnormal protein glycosylation that affect multiple organ systems. More than 100 different CDGs have been described, affecting protein and lipid glycosylation. NHGRI investigators have been able to isolate fibroblasts from patients with PMM2 (phosphomannomutase)-CDG, also known...

Published: 7/25/2024 | Inventor(s): Lynne Wolfe, Carlos Ferreira Lopez, William Gahl

Keywords(s): Cell, Congenital, DISORDER, Fibroblast, Glycosylatlon, Human, Lines, PMM2, VEXXXX, VPXXXX, WIXXXX, WKXXXX

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

Fibroblast Cell Lines (with L444P/RecNci1 Genotype) for the Screening of Small Molecules for Gaucher Disease Treatment

This technology includes two human fibroblast cell lines to 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)....

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

Keywords(s): Cell, Fibroblast, Gaucher, Genotype, L44P/RecNci1, Lines, PATIENT, VPXXXX, WKXXXX, XHXXXX

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

High Concentration Methylcobalamin (Me-Cbl) or Combination of Methyl- and Hydroxocobalamin (Me/OH-Cbl) for the Treatment of Cobalamin C Deficiency and Related Disorders

Cobalamin C deficiency (cblC), caused by mutations in MMACHC, is the most common inborn error of intracellular vitamin B12 metabolism. NHGRI scientist have generated a number of Mmachc knockout mouse models. The cblC mice present with early lethality, recapitulate the neurological phenotype seen in patients, and have enabled proof of concept testing...

Published: 7/25/2024 | Inventor(s): Jennifer Sloan, Eirini (Irini) Manoli, Charles Venditti

Keywords(s): C, Cobalamin, Combination, Concentration, DEFICIENCY, DISORDERS, High, Hydroxocobalamin, Me/OH-Cbl, Me-Cbl, Methyl-, Methylcobalamin, RELATED, treatment, VPXXXX, WKXXXX

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

Aberrant Post-translational Modifications (PTMs) in Methyl- and Propionic Acidemia and the Construction of a Novel Sirtuin (SIRT) Gene to Metabolize PTMs

Isolated Methylmalonic Acidemia (MMA) and the related disorder Propionic Acidemia (PA) comprise a relatively common and heterogeneous group of inborn errors of metabolism. NHGRI scientist discovered that in isolated MMA, a novel inhibitory PTM, methylmalonyllysine, is generated and inactivates protein targets through the failure of SIRT-mediated deacylation,...

Published: 7/25/2024 | Inventor(s): PamelaSara Head, Charles Venditti

Keywords(s): Aberrant, Acidemia, Construction, Discovery, Ene, Metabolize, Methyl-, Modifications, Novel, Post-translational, Propionic, PTMs, Sirt, Sirtuin, VPXXXX, WIXXXX, WKXXXX, XEXXXX

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

Mouse Model of Cobalamin A (cblA) Class Isolated Methylmalonic Acidemia (MMA) to Study New Therapies

Isolated Methylmalonic Acidemia (MMA) comprises a relatively common and heterogeneous group of inborn errors of metabolism. Most affected individuals display severe multisystemic disease characterized by metabolic instability, chronic renal disease, and neurological complications. Patients with the cobalamin A (cblA) subtype of MMA can have variable...

Published: 7/25/2024 | Inventor(s): Eirini (Irini) Manoli, Charles Venditti

Keywords(s): Acidemia, cblA, Class, Cobalamin, ISOLATED, Methylmalonic, MMA, Model, Mouse, VEXXXX, VPXXXX, WKXXXX, XCXXXX

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

Creation and Use of 12-LO inhibitors (4-((2-hydroxy-3-methoxybenzyl)amino)benzenesulfonamide derivatives) for the Treatment of Diabetes and Large Platelet-Derived Clots

This technology includes the discovery and use of novel selective 12-LO (lipoxygenase) inhibitors, 4-((2-hydroxy-3-methoxybenzyl)amino)benzenesulfonamide derivatives, for attenuating large clots and for the treatment of Type 1/2 diabetes. A 12-LO inhibitor could be a potent intracellular approach to block platelets from forming large clots in response...

Published: 7/25/2024 | Inventor(s): Ajit Jadhav, Anton Simeonov, Adam Yasgar, Diane Luci, Michael Holinstat, Theodore Holman, Jerry Nadler, David Taylor-Fishwick, David Maloney

Keywords(s): 12-Lipoxygenase., 4-2-hydroxy-3-methoxybenzylaminobenzenesulfon, Derivatives, Discovery, Human, Inhibitors, Listed LPM Nguyen-Antczak as of 4/15/2015, Post LPM Assignment Set 20150420, POTENT, Pre LPM working set 20150418, SELECTIVE, VDXXXX, VFXXXX, WKXXXX, XEXXXX

Category(s): TherapeuticArea > Cardiology, TherapeuticArea > Endocrinology, Application > Therapeutics

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