Search Results - model

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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

Mouse Model of Hutchinson-Gilford Progeria Syndrome (HGPS) and Vascular Abnormalities (G608G) mutated form of human LNMA) for Therapeutic Development

Children with Hutchinson-Gilford progeria syndrome (HGPS) suffer from acceleration of certain aging symptoms, mainly cardiovascular disease that generally leads to death from myocardial infarction and/or stroke. The cause of HGPS has been discovered to be a de novo point mutation in lamin A (LNMA) gene. NHGRI Scientist have generated a transgenic...

Published: 7/25/2024 | Inventor(s): Francis Collins, Maria Eriksson, Renee Varga, Michael Erdos

Keywords(s): Abnormalities, HGPS, Hutchinson-Gilford, Listed LPM Maddox as of 4/15/2015, Model, Mouse, Post LPM Assignment Set 20150420, Pre LPM working set 20150418, Progeria, RXXXXX, Syndrome, vascular, VEXXXX, VPXXXX, XEXXXX

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

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

Novel mouse model of mut- methylmalonic acidemia (MMA) Mut-/- Tg CBAMutG715V : Mut partial-deficiency

Methylmalonic acidemia (MMA) is an autosomal recessive disorder, caused by the deficiency of the mitochondrial enzyme methylmalonyl-CoA mutase (MUT). It is characterized by metabolic instability, multiorgan pathology, and poor prognosis for long-term survival. A well-characterized human mutation, p.G717V, has been introduced into mice. This mutation...

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

Keywords(s): :, Acidemia, CBAMutG715V, Methylmalonic, MMA, Model, Mouse, MUT, Mut-, Mut-/-, Novel, Partial-deficiency, Tg, VPXXXX, WIXXXX, XEXXXX

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

Novel mouse model of methylmalonic acidemia (MMA) Mut-/- Tg INS-Mck-Mut

Methylmalonic acidemia (MMA) is an autosomal recessive disorder, caused by the deficiency of the mitochondrial enzyme methylmalonyl-CoA mutase (MUT). It is characterized by metabolic instability, multiorgan pathology, and poor prognosis for long-term survival. Deletion of Mut in mice results in neonathal lethality, thus, to overcome this limitation,...

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

Keywords(s): Acidemia, INS-Mck-Mut, Methylmalonic, MMA, Model, Mouse, Mut-/-, Novel, Tg, VPXXXX, WIXXXX, XEXXXX

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

Diagnostic Antigens for the Identification of Latent Tuberculosis Infection

CDC researchers have developed technology for sero-diagnosis of typically symptomless latent stage tuberculosis disease, posing a threat to individuals under immunosuppressive or anti-inflammatory therapies. Specifically, this diagnostic approach exploits M. tuberculosis secreted latency specific antigens, such as alpha-crystallin, in the blood or urine...

Published: 7/25/2024 | Inventor(s): Manon Deslauriers, Kristin Birkness, Peter King, Bernard Beall, Frederick Quinn

Keywords(s): ANTIGENS, CDC Docket Import, CDC Docket Import CDC Prosecuting, DA3XXX, DAXXXX, DC4XXX, DCXXXX, DDXXXX, DEXXXX, diagnostic, DXXXXX, Granuloma, Human, IA3XXX, Identification, Latent, Methods, Model, OID-NCHHSTP-DTE, TUBERCULOSIS, VAXXXX, Vitro, VJXXXX, WBXXXX, WFXXXX, WIXXXX, XAXXXX, XCXXXX, YBXXXX, YDXXXX

Category(s): Collaboration Sought > Licensing, TherapeuticArea > Geriatrics, TherapeuticArea > Immunology, Application > Consumer Products, TherapeuticArea > Infectious Disease, Application > Research Materials, Application > Diagnostics, ResearchProducts > Antibodies, Application > Vaccines, Application > Occupational Safety and Health

Novel In Vitro Granuloma Model for Studying Tuberculosis and Drug Efficacy

CDC researchers have developed an in vitro model system designed to simulate early-stage Mycobacterium tuberculosis infection and induced granuloma formation. This modeling platform can be used for studying tuberculosis pathogenicity, identifying phenotypically-interesting clinical isolates, studying early-stage host cytokine/chemokine responses, and...

Published: 7/25/2024 | Inventor(s): Manon Deslauriers, Kristin Birkness, Peter King, Bernard Beall, Frederick Quinn

Keywords(s): AC4XXX, AC5XXX, ACXXXX, ANTIGENS, AXXXXX, CDC Docket Import, CDC Docket Import CDC Prosecuting, DA3XXX, DAXXXX, DC4XXX, DCXXXX, DDXXXX, DEXXXX, diagnostic, DXXXXX, Granuloma, Human, IA3XXX, Identification, Latent, Methods, Model, OID-NCHHSTP-DTE, TUBERCULOSIS, Vitro, VJXXXX, WBXXXX, WFXXXX, WIXXXX, WMXXXX, XHXXXX, YBXXXX, YFXXXX

Category(s): Collaboration Sought > Licensing, TherapeuticArea > Infectious Disease, Application > Vaccines, Application > Consumer Products, Application > Occupational Safety and Health, ResearchProducts > Research Equipment, TherapeuticArea > Immunology, Application > Research Materials, Application > Diagnostics

Mouse Model for Methylmalonic Acidemia, an Inherited Metabolic Disorder

Methylmalonic Acidemia (MMA) is a metabolic disorder affecting 1 in 25,000 to 48,000 individuals globally. MMA is characterized by increased acidity in the blood and tissues due to toxic accumulation of protein and fat by-products resulting in seizures, strokes, and chronic kidney failure. About 60% of MMA cases stem from mutations in the methylmalonyl...

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

Keywords(s): Dysfunction, metabolic disorder, Methylmalonic acidemia, Methylmalonyl-CoA, methylmalonyl-CoA mutase, MITOCHONDRIAL, MMA, Model, Mouse, MUT, RENAL, RXXXXX, TRANSGENIC, transgenic mouse, YAXXXX, YBXXXX, YCXXXX

Category(s): Collaboration Sought > Collaboration, Application > Research Materials

Rat Model for Alzheimer's Disease

The present invention is directed to a transgenic rat model of Alzheimer's Disease (AD) termed TgF344-19+/-. The invention rat overexpresses two human genes (APPswe and PS1deltaE9 genes), each of which are believed to be independent dominant causes of early-onset AD. The hemizygote exhibits major features of AD pathology (i.e., dense and diffuse amyloid...

Published: 7/25/2024 | Inventor(s): Daniel (missing inventor) Ye, Robert Cohen

Keywords(s): ALZHEIMER'S, Disease, Model, rat, RXXXXX, TgF344+/-

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

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