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Synthetic Genes for the Treatment of Propionic Acidemia (PA) Caused by Mutations in Propionyl-coA Carboxylase Alpha (PCCA)

Propionic acidemia (PA) is an autosomal recessive metabolic disorder caused by mutations in either PCCA or PCCB. The products of these genes form the alpha and beta subunits of the enzyme propionyl-Co A carboxylase (PCC), a critically important mitochondrial enzyme involved in the catabolism of branched chain amino acids. NHGRI scientist have developed...

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

Keywords(s): Acidemia, ALPHA, Carbox, CAUSED, GENES, Lase, Mutations, PA, Pcca, Propionic, PropionylcoA, Synthetic, treatment, VPXXXX, WIXXXX, XEXXXX

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

Serum Protein Biomarkers that Predict the Response to Liver Directed Therapy in Methymalonic Acidemia (MMA) and Propionic Acidemia (PA)

Isolated Methylmalonic Acidemia (MMA) comprises a relatively common and heterogeneous group of inborn errors of metabolism. The most common cause of isolated MMA is genetic deficiency of the enzyme methylmalonyl-coA mutase (MUT), which, unfortunately for the affected patients, is also the most clinically severe. NHGRI scientist have discovered biomarkers...

Published: 7/25/2024 | Inventor(s): Eirini (Irini) Manoli, Charles Venditti

Keywords(s): Acidemia, Biomarkers, Directed, liver, Methymalonic, MMA, PREDICT, Protein, RESPONSE, SERUM, That, THERAPY, VPXXXX, WBXXXX, WIXXXX, XCXXXX, XEXXXX

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

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 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: 7/25/2024 | 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: 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

Non-invasive Isotopic Biomarkers that Predict the Response to Liver Directed Therapy in Methymalonic Acidemia (MMA) and Propionic Acidemia (PA)

Published: 7/25/2024 | Inventor(s): Eirini (Irini) Manoli, Charles Venditti

Keywords(s): Acidemia, Biomarkers, Directed, ISOTOPIC, liver, Methymalonic, MMA, NON-INVASIVE, PREDICT, RESPONSE, That, THERAPY, VPXXXX, WFXXXX, WIXXXX, XCXXXX

Category(s): Application > Occupational Safety and Health, Application > Research Materials, Application > Diagnostics, TherapeuticArea > Dental, TherapeuticArea > Cardiology, TherapeuticArea > Infectious Disease, TherapeuticArea > Endocrinology, Application > Consumer Products, TherapeuticArea > Ophthalmology, TherapeuticArea > Oncology

Propionyl-CoA Carboxylase Beta (PCCB) Alleles in Propionic Acidemia (PA) mouse models

Propionic acidemia (PA) is an autosomal recessive metabolic disorder caused by mutations in either Propionyl-CoA carboxylase alpha (PCCA) or Propionyl-CoA carboxylase beta (PCCB). The products of these genes form the alpha and beta subunits of the enzyme propionyl-Co A carboxylase (PCC), a critically important mitochondrial enzyme involved in the catabolism...

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

Keywords(s): Acidemia, ALLELES, Beta, Carboxylase, PA, Pccb, Propionic, Propionyl-CoA, VPXXXX, WIXXXX, XEXXXX

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

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