Search Results - cobalamin

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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: 10/28/2024   |   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
Gene Therapy for Cobalamin C Deficiency (cblC) with Viable Mouse Models
Cobalamin C deficiency (cblC) is the most common inborn error of intracellular cobalamin metabolism and is caused by mutations in MMACHC, a gene responsible for processing and trafficking dependent enzymes: intracellular cobalamin, resulting in elevated methylmalonic acid and homocysteine and methionine deficiency. Disease manifestations include growth...
Published: 10/28/2024   |   Inventor(s): Jennifer Sloan, Charles Venditti
Keywords(s): C, cblC, Cobalamin, DEFICIENCY, Gene, THERAPY, VDXXXX, VEXXXX, VPXXXX, WIXXXX, WJXXXX, XEXXXX
Category(s): TherapeuticArea > Dental, TherapeuticArea > Endocrinology, Application > Therapeutics, TherapeuticArea > Oncology, TherapeuticArea > Cardiology, TherapeuticArea > Ophthalmology, TherapeuticArea > Neurology, TherapeuticArea > Infectious Disease, Application > Research Materials
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
Genetically Improved Bacterium Strain That Efficiently Produces High Yields of Vitamin B12
Efficiently Synthesizes Vitamin B12 for Higher Yields at Lower-Cost Commercial Production This genetically modified strain of bacteria dramatically increases the amount of vitamin B12 produced by the Propionibacterium. Commercial production of vitamin B12 supplements commonly uses Propionibacterium, and this genetically modified strain can increase...
Published: 2/22/2024   |   Inventor(s): Mansour M. Zadeh
Keywords(s): Cobalamin, Probiotic, Vitamin B12
Category(s): Technology Classifications > Research Tools > Biological Materials