Search Results - methylmalonic

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Novel mouse models of methylmalonic acidemia (MMA) : C57Bl6/Sv129 Mut-/- (full knock-out) and (C57Bl6/Sv129) FvBN Mut -/- (full knock-out)
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. To study MMA caused by MUT deficiency, a series of murine models have been constructed using...
Published: 10/28/2024   |   Inventor(s): Randy Chandler, Charles Venditti
Keywords(s): -/-, :, Acidemia, C57Bl6/Sv129, FULL, FvBN, KNOCK-OUT, Methylmalonic, MMA, Models, Mouse, MUT, Mut-/-, Novel, VPXXXX, WIXXXX, XEXXXX
Category(s): TherapeuticArea > Oncology, TherapeuticArea > Infectious Disease, TherapeuticArea > Ophthalmology, TherapeuticArea > Dental, Application > Research Materials, Application > Therapeutics, TherapeuticArea > Endocrinology, TherapeuticArea > Cardiology
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: 10/28/2024   |   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: 10/28/2024   |   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
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: 10/28/2024   |   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.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: 10/28/2024   |   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)
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: 10/28/2024   |   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: 10/28/2024   |   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
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: 10/28/2024   |   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
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: 10/28/2024   |   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