Search Results - jessica+schneller

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Mmut P.R106C/P.R106C 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.R106C. 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, MutaseMmut, P.R106C, P.R106C/, VPXXXX, WIXXXX, XEXXXX

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

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

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