Search Results - mut

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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: 7/25/2024 | 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: 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 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

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