Search Results - histidinemia

9 Results Sort By:
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....
Published: 10/28/2024   |   Inventor(s): Randy Chandler, Charles Venditti
Keywords(s): (4)r syndrome, 3-@hydroxyacyl-coa dehydrogenase deficiency, AC3XXX, Acid, Acidemia, isovaleric, ACXXXX, AMINO, AXXXXX, C syndrome, C13CO2, Chamber, Chromosome 4 ring syndrome, Chromosome 6 ring syndrome, Chromosome 7 ring syndrome, CO2, Detection, Direct, FATTY, G syndrome, HAD deficiency, HIS deficiency, Histidinemia, Hypertelorism with esophageal abnormality and hypospadias, Isotope, Isovaleric acidemia, Maple syrup urine disease, Mass, MEASURE, Measureirent, MEASUREMENT, metabolic disorder, Method, Methylmalonic acidemia, Mice, N syndrome, Non-alcoholic steatohepatitis (NASH), ORGANIC, OXIDATION, Patent Category - Mech/Elect/Soft, Phenylketonuria, production, QUANTITATION, R(6) syndrome, R(7) syndrome, RATES, RATIO, respiratory, SPECTROMETRY, SUBSTRATES, Syndrome X, Vivo, W syndrome, W syndrome; Syndrome W
Category(s): Collaboration Sought > Collaboration, Collaboration Sought > Licensing
Therapeutic Peptide Treatment for Dyslipidemic and Vascular Disorders
This invention is directed to use of certain peptide analogs comprising multiple amphipathic helical domains that are able to promote cellular lipid efflux and stimulate lipoprotein lipase activity. As a result, administration of invention peptides lead to reduced incidences of hypertriglyceridemia without inducing toxicity. Existing peptides that stimulate...
Published: 10/28/2024   |   Inventor(s): Marcelo Amar, Alan Remaley
Keywords(s): 3-@hydroxyacyl-coa dehydrogenase deficiency, ApoA-I, HAD deficiency, HIS deficiency, Histidinemia, Hypertriglyceridemia, IB1XXX, IBXXXX, IXXXXX, Mimetic, Patent Category - Biotechnology, Peptides, VDXXXX, VHXXXX, WBXXXX, WJXXXX, YAXXXX, YBXXXX, YCXXXX
Category(s): Collaboration Sought > Collaboration, Application > Therapeutics, TherapeuticArea > Endocrinology, TherapeuticArea > Cardiology, Application > Diagnostics, Application > Research Materials
Small Molecule Activators of Human Pyruvate Kinase for Treatment of Cancer and Enzyme-Deficient Hemolytic Anemia
NIH investigators have discovered a series of small compounds with the potential to treat a variety of cancers as well as hemolytic anemia. Contrary to most cancer medications, these molecules can be non-toxic to normal cells because they target a protein specific to the metabolic pathways in tumors, thus representing a significant clinical advantage...
Published: 10/28/2024   |   Inventor(s): Craig Thomas
Keywords(s): 3-@hydroxyacyl-coa dehydrogenase deficiency, ACTIVATORS, CB3CXX, CB3XXX, CBXXXX, CXXXXX, HAD deficiency, HIS deficiency, Histidinemia, Human, Kinase, MOLECULE, Patent Category - Chemistry, PYRUVATE, Small
Category(s): Collaboration Sought > Collaboration, Collaboration Sought > Licensing, Application > Therapeutics, TherapeuticArea > Oncology
Wild-Type and DNA Polymerase beta Null Mouse Embryotic Fibroblast Cell Lines Harboring a lambda-LIZ Transgene
Of great utility in toxicology and DNA repair research are knockout mice with cell lines enabling one to evaluate generations of gene mutations as a direct function of base excision repair. Of particular importance are lambda-LIZ transgenes. Likewise, wild-type and beta-pol null cell lines are equally important. While there exist cell lines carrying...
Published: 10/28/2024   |   Inventor(s): Robert Sobol
Keywords(s): 3-@hydroxyacyl-coa dehydrogenase deficiency, 47 XYY syndrome, AC5XXX, ACXXXX, AXXXXX, B, Cell, DNA, Double Y, Embryonic, Fibroblast, HAD deficiency, harboring, HIS deficiency, Histidinemia, KO, Lines, Mouse, NULL, polymerase, SV40T-Ag, TRANSFORMED, TRANSGENE, WILD-TYPE, Y-LIZ
Category(s): Collaboration Sought > Licensing
Generation of Smad3-null Mice and Smad4-conditional Mice
SMADs are a novel set of mammalian proteins that act downstream of TGF-beta family ligands. These proteins can be categorized into three distinct functional sets, receptor-activated SMADs (SMADs 1,2,3,5, and 8), the common mediator SMAD (SMAD 4), and inhibitory SMADs (SMADs 6 and 7). SMAD proteins are thought to play a role in vertebrate development...
Published: 4/8/2024   |   Inventor(s): Chuxia Deng
Keywords(s): 3-@hydroxyacyl-coa dehydrogenase deficiency, BAXXXX, HAD deficiency, HIS deficiency, Histidinemia, IDXXXX, IXXXXX
Category(s): Collaboration Sought > Collaboration, Collaboration Sought > Licensing, Application > Therapeutics, ResearchProducts > Animal Models, Application > Research Materials, Application > Diagnostics
ApoA-1 Mimetic Peptides Promoting Lipid Efflux from Cells for Treatment of Vascular Disorders
This invention involves ApoA-1 mimetic peptides with multiple amphipathic alpha-helical domains that promote lipid efflux from cells and are useful in the treatment and prevention of dyslipidemic, inflammatory and vascular disorders. IND-enabling studies for one of the peptides, named Fx-5A, are completed in preparation for an IND filing at the FDA,...
Published: 10/28/2024   |   Inventor(s): Edward Neufeld, Fairwell Thomas, H. Bryan Brewer, Stephen Demosky, John Stonik, Marcelo Amar, Alan Remaley
Keywords(s): (4)r syndrome, 3-@hydroxyacyl-coa dehydrogenase deficiency, AMPHIPATHIC, assay, Atherosclerosis., C syndrome, Chromosome 4 ring syndrome, Chromosome 6 ring syndrome, Chromosome 7 ring syndrome, COMPOSITION, G syndrome, HAD deficiency, HELICAL, HIS deficiency, Histidinemia, Hyperlipoproteinemia, Hypertelorism with esophageal abnormality and hypospadias, IA1XXX, IAXXXX, IXXXXX, Listed LPM Nguyen-Antczak as of 4/15/2015, Multi-domain, N syndrome, Patent Category - Biotechnology, Peptides, Post LPM Assignment Set 20150420, Pre LPM working set 20150418, R(6) syndrome, R(7) syndrome, Syndrome X, System, treatment, UA1XXX, VDXXXX, VHXXXX, W syndrome, W syndrome; Syndrome W, WJXXXX, YAXXXX, YBXXXX, YCXXXX
Category(s): Collaboration Sought > Collaboration, Collaboration Sought > Licensing, TherapeuticArea > Cardiology, TherapeuticArea > Endocrinology, Application > Therapeutics, TherapeuticArea > Rare / Neglected Diseases, Application > Research Materials, Application > Diagnostics
MVA Expressing Modified HIV envelope, gag, and pol Genes
This invention claims Modified Vaccinia Ankara (MVA), a replication-deficient strain of vaccinia virus, expressing Human Immunodeficiency Virus (HIV) env, gag, and pol genes, where the genes are isolated from Ugandan Clade D isolates, Kenyan Clade A isolates, and Tanzanian Clade C isolates. In a rhesus macaque SHIV model, DNA priming followed by a...
Published: 10/28/2024   |   Inventor(s): Linda Wyatt, Patricia Earl, Bernard Moss
Keywords(s): (4)r syndrome, 3-@hydroxyacyl-coa dehydrogenase deficiency, Altered, C syndrome, Chromosome 4 ring syndrome, Chromosome 6 ring syndrome, Chromosome 7 ring syndrome, D, DB4AXX, DB4XXX, DBXXXX, DC5AXX, DC5XXX, DCXXXX, DXXXXX, Envelope, Expressing, G syndrome, GAG, GENES, HAD deficiency, HIS deficiency, Histidinemia, HIV, Hyper IgM syndrome, Hypertelorism with esophageal abnormality and hypospadias, Immunodeficiency 2, Immunodeficiency 4, Immunodeficiency-3, MVA, N syndrome, polymerase, R(6) syndrome, R(7) syndrome, Severe combined immunodeficiency, x-linked, Subtype, Syndrome X, W syndrome, W syndrome; Syndrome W, Wiskott Aldrich syndrome
Category(s): Collaboration Sought > Licensing, Application > Therapeutics, TherapeuticArea > Infectious Disease, Application > Vaccines
A Mouse Model for Systemic Inflammation in Glucocerebrosidase-Deficient Mice with Minimal Glucosylceramide Storage
Gaucher disease, the most common lysosomal storage disease, is an inherited metabolic disorder in which harmful quantities of the lipid glucocerebroside accumulate in the spleen, liver, lungs, bone marrow and in rare cases in the brain, due to a deficiency of the enzyme glucocerebrosidase (Gba) that catalyses the first step in the biodegradation of...
Published: 4/8/2024   |   Inventor(s): Richard Proia
Keywords(s): 3-@hydroxyacyl-coa dehydrogenase deficiency, Gaucher Disease, Glucocerebrosidase deficiency; Gaucher Disease, HAD deficiency, HIS deficiency, Histidinemia, IDXXXX, IXXXXX, metabolic disorder
Category(s): Collaboration Sought > Licensing, Application > Diagnostics, Application > Research Materials, Application > Therapeutics
Oral Treatment of Hemophilia
This invention portrays a simple method for treatment of antigen-deficiency diseases by orally administering to a subject a therapeutically effective amount of the deficient antigen, wherein the antigen is not present in a liposome. This method increases hemostasis in a subject having hemophilia A or B, by orally administering to the hemophiliac a...
Published: 10/28/2024   |   Inventor(s): Oral Alpan, Polly Matzinger, Tirumalai Kamala, William Velander
Keywords(s): 3-@hydroxyacyl-coa dehydrogenase deficiency, HAD deficiency, Hemophilia A, Hemophilia B, HIS deficiency, Histidinemia, IBXXXX, IXXXXX, VPXXXX, WJXXXX, YBXXXX, YCXXXX
Category(s): Collaboration Sought > Licensing, TherapeuticArea > Infectious Disease, TherapeuticArea > Dental, TherapeuticArea > Oncology, Application > Diagnostics, TherapeuticArea > Endocrinology, TherapeuticArea > Ophthalmology, Application > Therapeutics, Application > Research Materials, TherapeuticArea > Cardiology