32 results on '"Karunanidhi, Anuradha"'
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2. Heptanoic and medium branched-chain fatty acids as anaplerotic treatment for medium chain acyl-CoA dehydrogenase deficiency
3. Mitochondrial dysfunction associated with TANGO2 deficiency
4. Messenger RNA rescues medium-chain acyl-CoA dehydrogenase deficiency in fibroblasts from patients and a murine model
5. Reticular Dysgenesis and Mitochondriopathy Induced by Adenylate Kinase 2 Deficiency with Atypical Presentation
6. Investigating the link of ACAD10 deficiency to type 2 diabetes mellitus
7. EFFECT OF TRIHEPTANOIN AND MEDIUM BRANCHED-CHAIN FATTY ACIDS ON LYSINE SUCCINYLATION IN HUMAN MCAD DEFICIENT FIBROBLAST CELLS AND MURINE KO MODEL
8. ANAPLEROTIC COMPOUNDS IMPROVE O CONSUMPTION AND RESTORE SUCCINYLLYSINE ANTIGENIC SIGNAL IN LONG-CHAIN FATTY ACID OXIDATION DEFICIENT CELLS
9. ELAMIPRETIDE RESTORES MITOCHONDRIAL FUNCTION IN TRIFUNCTIONAL PROTEIN DEFICIENCY MICE AND HUMAN FIBROBLASTS
10. A multiomics approach to understanding pathology of Combined D,L-2- Hydroxyglutaric Aciduria and phenylbutyrate as potential treatment
11. Heptanoic and Medium Branched-Chain Fatty Acids as Anaplerotic Treatment for Medium Chain Acyl-CoA Dehydrogenase Deficiency
12. Synthetic mRNA rescues very long-chain acyl-CoA dehydrogenase deficiency in patient fibroblasts and a murine model
13. A multiomics approach to understanding pathology of Combined D,L-2- Hydroxyglutaric Aciduria and phenylbutyrate as potential treatment
14. ETHE1 and MOCS1 deficiencies: Disruption of mitochondrial bioenergetics, dynamics, redox homeostasis and endoplasmic reticulum-mitochondria crosstalk in patient fibroblasts
15. ITCH deficiency clinical phenotype expansion and mitochondrial dysfunction
16. ANAPLEROTIC COMPOUNDS IMPROVE O2CONSUMPTION AND RESTORE SUCCINYLLYSINE ANTIGENIC SIGNAL IN LONG-CHAIN FATTY ACID OXIDATION DEFICIENT CELLS
17. Treatment of VLCAD-Deficient Patient Fibroblasts with Peroxisome Proliferator-Activated Receptor δ Agonist Improves Cellular Bioenergetics
18. Treatment of VLCAD deficient patient fibroblasts with peroxisome-proliferator activated receptor δ agonist improves cellular bioenergetics
19. HEPTANOATE AND DERIVATIVES AS THERAPY FOR MCAD DEFICIENCY: PRECLINICAL EVIDENCE OF EFFICACY AND IMPLICATIONS FOR ANAPLEROTIC DRUG CLASS THERAPY
20. Medium branched chain fatty acids improve the profile of tricarboxylic acid cycle intermediates in mitochondrial fatty acid β‐oxidation deficient cells: A comparative study
21. Development and characterization of a mouse model for Acad9 deficiency
22. Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis
23. Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency
24. Treatment of VLCAD-Deficient Patient Fibroblasts with Peroxisome Proliferator-Activated Receptor δ Agonist Improves Cellular Bioenergetics.
25. ACAD10 protein expression and Neurobehavioral assessment of Acad10-deficient mice
26. Medium-chain acyl-CoA dehydrogenase substrate binding site: A pharmacophore target for MCAD mutant chaperone therapy.
27. Clinical, biochemical, mitochondrial, and metabolomic aspects of methylmalonate semialdehyde dehydrogenase deficiency: Report of a fifth case
28. Mitochondrial energetics is impaired in very long-chain acyl-CoA dehydrogenase deficiency and can be rescued by treatment with mitochondria-targeted electron scavengers
29. Evaluation of mitochondrial bioenergetics, dynamics, endoplasmic reticulum-mitochondria crosstalk, and reactive oxygen species in fibroblasts from patients with complex I deficiency
30. Investigating the link of ACAD10 deficiency to type 2 diabetes mellitus
31. Mitochondrial energetics is impaired in very long-chain acyl-CoA dehydrogenase deficiency and can be rescued by treatment with mitochondria-targeted electron scavengers.
32. A multiomics approach to understanding pathology of Combined D,L-2- Hydroxyglutaric Aciduria and phenylbutyrate as potential treatment.
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