Search Results - eirini+(irini)+manoli

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Treating Kidney Disorders and Diabetic Nephropathy with N-acetyl mannosamine (ManNAc)

N-acetylmannosamine (ManNAc) is a small uncharged physiological molecule that crosses membranes readily and is the natural precursor of intracellular sialic acid synthesis. NHGRI investigators discovered that ManNAc can be used for therapeutic purposes, including treating certain kidney diseases (e.g., those involving proteinuria and hematuria), resulting...

Published: 5/9/2024 | Inventor(s): Marjan Huizing, William Gahl, Eirini (Irini) Manoli, Enriko Klootwijk

Keywords(s):

Category(s): Application > Therapeutics

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 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

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

High Concentration Methylcobalamin (Me-Cbl) or Combination of Methyl- and Hydroxocobalamin (Me/OH-Cbl) for the Treatment of Cobalamin C Deficiency and Related Disorders

Cobalamin C deficiency (cblC), caused by mutations in MMACHC, is the most common inborn error of intracellular vitamin B12 metabolism. NHGRI scientist have generated a number of Mmachc knockout mouse models. The cblC mice present with early lethality, recapitulate the neurological phenotype seen in patients, and have enabled proof of concept testing...

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

Keywords(s): C, Cobalamin, Combination, Concentration, DEFICIENCY, DISORDERS, High, Hydroxocobalamin, Me/OH-Cbl, Me-Cbl, Methyl-, Methylcobalamin, RELATED, treatment, VPXXXX, WKXXXX

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

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: 7/25/2024 | 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

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