Search Results - mutase

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Novel Adeno-associated Viral (AAV) Vectors to Treat Hereditary Methylmalonic Acidemia (MMA) Caused by Methylmalonyl-coA Mutase (MMUT) Deficiency

Deficiency of the enzyme in methylmalonyl-CoA mutase (MMUT) results is a life-threatening disease, methylmalonic acidemia (MMA), that carries high rates of morbidity and mortality. NHGRI scientists have developed novel AAV vectors that combine the proprietary codon-optimized synMMUT alleles with either a liver-specific promoter from the human alpha-1...

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

Keywords(s): AAV, Acidemia, Adeno-associated, CAUSED, DEFICIENCY, Hereditary, Methylmalonic, Methylmalonyl-CoA, MMA, Mmut, Mutase, Novel, TREAT, vectors, viral, VPXXXX, WIXXXX, WJXXXX, XEXXXX

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

Mmut P.Pro207_Lysl10del/P.Pro207_Lysl10del Knock-In Methylmalonyl-CoA Mutase (Mmut) Allele Mouse Models for the Study of Methylmalonic Acidemia (MMA)

Isolated Methylmalonic Acidemia (MMA) comprises a relatively common and heterogeneous group of inborn errors of metabolism. In order to create mouse models of MMA to resemble the pathogenic mutations seen in patients, the NHGRI scientist used genome editing to generate new mutants of the Mmut allele -p.Pro207 _Lys210del. In order to create mouse...

Published: 7/25/2024 | Inventor(s): Jessica Schneller, Randy Chandler, Charles Venditti

Keywords(s): Acidemia, ALLELE, Knock-in, Methylmalonic, Methylmalonyl-CoA, MMA, Mmut, Mutase, P.Pro207_Lys210del, P.Pro207_Lys210del/, VPXXXX, WIXXXX, XEXXXX

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

Mmut p.G715v/p.G71 Knock-ln Methylmalonyl-CoA Mutase (Mmut) Allele Mouse Models for the Study of Methylmalonic Acidemia (MMA)

Isolated Methylmalonic Acidemia (MMA) comprises a relatively common and heterogeneous group of inborn errors of metabolism. In order to create mouse models of MMA to resemble the pathogenic mutations seen in patients, the NHGRI scientist used genome editing to generate new mutants of Mmut allele -p.G715V. This allele recapitulates a missense mutation...

Published: 7/25/2024 | Inventor(s): Jessica Schneller, Randy Chandler, Charles Venditti

Keywords(s): Acidemia, ALLELE, Knock-in, Methylmalonic, Methylmalonyl-CoA, MMA, Mmut, Mutase, P.G715V, P.G715V/, VPXXXX, WIXXXX, XEXXXX

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

Novel Codon-Optimized Gene Therapeutic for Methylmalonic Acidemia

Methylmalonic Acidemia (MMA) is a metabolic disorder 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. A significant portion of MMA cases stem from a deficiency in a key mitochondrial enzyme, methylmalonyl-CoA mutase (MUT),...

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

Keywords(s): Acidemia, Class, GB2AXX, GBXXXX, GXXXXX, Methylmalonic, Methylmalonyl-CoA, MMA, MUT, Mutase, Synthetic, TRANSGENE, treatment

Category(s): Collaboration Sought > Collaboration, Application > Therapeutics

Potent and Selective Cyclic Peptide Inhibitors of Phosphoglycerate Mutase as Anti-Infective Agents

Summary – The invention includes compounds and compositions for inhibiting phosphoglycerate mutase (PGM) activity. In some examples, the compounds selectively inhibit cofactor-independent PGM (iPGM). In particular embodiments, the compounds include one or more cyclic peptides. Brief Background – Co-factor independent phosphoglycerate mutase (iPGM)...

Published: 7/25/2024 | Inventor(s): Patricia Dranchak, Ryan Macarthur, James Inglese

Keywords(s): Agents, Anti-infective, Cyclic, DB2XXX, DB3XXX, Inhibitors, Mutase, Peptide, Phosphoglycerate, POTENT, SELECTIVE, VJXXXX, VQXXXX

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