210 results on '"Ofman, Rob"'
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2. The origin of long-chain fatty acids required for de novo ether lipid/plasmalogen synthesis
3. Mevalonate kinase-deficient THP-1 cells show a disease-characteristic pro-inflammatory phenotype
4. Liver disease predominates in a mouse model for mild human Zellweger spectrum disorder
5. Identification of FDA‐approved drugs that increase mevalonate kinase in hyper IgD syndrome
6. Lipid-induced endoplasmic reticulum stress in X-linked adrenoleukodystrophy
7. Identification of FDA‐approved drugs that increase mevalonate kinase in hyper IgD syndrome.
8. CYP4F2 affects phenotypic outcome in adrenoleukodystrophy by modulating the clearance of very long-chain fatty acids
9. Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics
10. Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing
11. Enzymatic characterization of ELOVL1, a key enzyme in very long-chain fatty acid synthesis
12. Carnitine Biosynthesis : Purification of γ-butyrobetaine Hydroxylase from Rat Liver
13. Comparative profiling of the peroxisomal proteome of wildtype and Pex7 knockout mice by quantitative mass spectrometry
14. Valproic acid utilizes the isoleucine breakdown pathway for its complete β-oxidation
15. Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation
16. The role of ELOVL1 in very long‐chain fatty acid homeostasis and X‐linked adrenoleukodystrophy
17. Mitochondrial protein acetylation is driven by acetyl-CoA from fatty acid oxidation
18. Proteomics Characterization of Mouse Kidney Peroxisomes by Tandem Mass Spectrometry and Protein Correlation Profiling
19. Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration
20. Autophagy Inhibitors Do Not Restore Peroxisomal Functions in Cells With the Most Common Peroxisome Biogenesis Defect
21. Intellectual Disability and Hemizygous GPD2 Mutation
22. 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene. (Report)
23. ω-Oxidation of Very Long-chain Fatty Acids in Human Liver Microsomes: IMPLICATIONS FOR X-LINKED ADRENOLEUKODYSTROPHY
24. Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria
25. Lovastatin in X-Linked Adrenoleukodystrophy
26. Evidence for two enzymatic pathways for ω-oxidation of docosanoic acid in rat liver microsomes
27. Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy
28. The Nudix Hydrolase 7 is an Acyl-CoA Diphosphatase Involved in Regulating Peroxisomal Coenzyme A Homeostasis
29. Submitochondrial localization of 6-N-trimethyllysine dioxygenase − implications for carnitine biosynthesis
30. Carnitine Biosynthesis
31. Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic–ischemic brain diseases
32. Molecular and Biochemical Characterization of Rat ε-N-Trimethyllysine Hydroxylase, the First Enzyme of Carnitine Biosynthesis
33. Etherphospholipid Biosynthesis and Dihydroxyactetone-Phosphate Acyltransferase: Resolution of the Genomic Organization of the Human GNPAT Gene and Its Use in the Identification of Novel Mutations
34. Molecular and Biochemical Characterization of Rat γ-Trimethylaminobutyraldehyde Dehydrogenase and Evidence for the Involvement of Human Aldehyde Dehydrogenase 9 in Carnitine Biosynthesis
35. Functional studies on c.1347C>T, a polymorphism modulating phenotypic outcome in X-linked adrenoleukodystrophy
36. Endoplasmic reticulum stress signaling in patients with X-linked adrenoleukodystrophy
37. ELOVL1 is a potential target for therapeutic intervention in X-linked adrenoleukodystrophy
38. Phytanoyl-CoA hydroxylase from rat liver: protein purification and cDNA cloning with implications for the subcellular localization of phytanic acid α-oxidation
39. Identification and characterization of the mouse cDNA encoding acyl-CoA:dihydroxyacetone phosphate acyltransferase
40. A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome
41. Processing and trafficking of N-acetyl-α-glucosaminidase in fibroblasts of patients with mucopolysaccharidosis type IIIB
42. C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man
43. Characterization of the human omega-oxidation pathway for omega-hydroxy-very-long-chain fatty acids
44. Submitochondrial localization of 6-N-trimethyllysine dioxygenase - implications for carnitine biosynthesis
45. Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria
46. Proteomics of Renal Peroxisomes
47. Enzymatic diagnosis of Sjögren-Larsson syndrome using electrospray ionization mass spectrometry
48. Identification and characterization of Eci3, a murine kidney‐specific Δ3, Δ2‐enoyl‐CoA isomerase
49. Comment on the paper “Effect of statin treatment on adrenomyeloneuropathy with cerebral inflammation: A revisit”
50. Correction: The Proteome of Human Liver Peroxisomes: Identification of Five New Peroxisomal Constituents by a Label-Free Quantitative Proteomics Survey
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