298 results on '"Froese, D Sean'
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2. Paediatric Personalized Research Network Switzerland (SwissPedHealth): a joint paediatric national data stream
3. Real-time detection of enzymatically formed hydrogen sulfide by pathogenic variants of cystathionine beta-synthase using hemoglobin I of Lucina pectinata as a biosensor
4. Induced pluripotent stem cell-derived hepatocytes reveal TCA cycle disruption and the potential basis for triheptanoin treatment for malate dehydrogenase 2 deficiency
5. Evidence for interaction of 5,10-methylenetetrahydrofolate reductase (MTHFR) with methylenetetrahydrofolate dehydrogenase (MTHFD1) and general control nonderepressible 1 (GCN1)
6. Naturally occurring cobalamin (B12) analogs can function as cofactors for human methylmalonyl-CoA mutase
7. Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency
8. Disorders of Cobalamin Cobalamin disorders and Folate Transport Folate disorders and Metabolism
9. Biotin-Responsive Disorders Biotin-responsive Disorders
10. Disorders of Cobalamin Metabolism
11. HIF1 and DROSHA are involved in MMACHC repression in hypoxia
12. Molecular basis for the regulation of human glycogen synthase by phosphorylation and glucose-6-phosphate
13. Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria
14. Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12
15. Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice
16. Shifting landscapes of human MTHFR missense-variant effects
17. Mitochondrial disease, mitophagy, and cellular distress in methylmalonic acidemia
18. Clinical and structural insights into potential dominant negative triggers of proximal urea cycle disorders
19. Identification of small molecule allosteric modulators of 5,10-methylenetetrahydrofolate reductase (MTHFR) by targeting its unique regulatory domain
20. Naturally occurring cobalamin (B12) analogs can function as cofactors for human methylmalonyl-CoA mutase
21. Disorders of Cobalamin and Folate Transport and Metabolism
22. Biotin-Responsive Disorders
23. Decrease of disease‐related metabolites upon fasting in a hemizygous knock‐in mouse model (Mut‐ko/ki) of methylmalonic aciduria
24. Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency
25. In-depth phenotyping reveals common and novel disease symptoms in a hemizygous knock-in mouse model (Mut-ko/ki) of mut-type methylmalonic aciduria
26. Mitochondrial dysfunction drives a neuronal exhaustion phenotype in methylmalonic aciduria
27. Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency
28. The complex machinery of human cobalamin metabolism
29. Structural basis for the regulation of human 5,10-methylenetetrahydrofolate reductase by phosphorylation and S-adenosylmethionine inhibition
30. Methionine synthase and methionine synthase reductase interact with MMACHC and with MMADHC
31. A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients
32. Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry
33. Dynamic inter-domain transformations mediate the allosteric regulation of human 5, 10-methylenetetrahydrofolate reductase
34. Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria
35. Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect
36. Mitochondrial disease, mitophagy, and cellular distress in methylmalonic acidemia
37. Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency
38. Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria
39. The complex machinery of human cobalamin metabolism
40. Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-Mannosylation
41. Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking
42. Cellular and computational models reveal environmental and metabolic interactions in MMUT-type methylmalonic aciduria
43. Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system
44. The Role of Protein Structural Analysis in the Next Generation Sequencing Era
45. Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria
46. Cellular and computational models reveal environmental and metabolic interactions inMMUT‐type methylmalonic aciduria
47. Crystal Structures of Malonyl-Coenzyme A Decarboxylase Provide Insights into Its Catalytic Mechanism and Disease-Causing Mutations
48. Cellular and computational models reveal environmental and genetic interactions in MMUT-type methylmalonic aciduria
49. Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency
50. Cellular and computational models reveal environmental and genetic interactions in MMUT-type methylmalonic aciduria
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