A multiomics approach reveals evidence for phenylbutyrate as a potential treatment for combined D,L-2- hydroxyglutaric aciduria

Authors: Phua, Yu Leng, D'Annibale, Olivia M., Karunanidhi, Anuradha, Mohsen, Al-Walid, Kirmse, Brian, Dobrowolski, Steven F., Vockley, Jerry

Source: In Molecular Genetics and Metabolism July 2024 142(3)

Heptanoic and medium branched-chain fatty acids as anaplerotic treatment for medium chain acyl-CoA dehydrogenase deficiency

Authors: Karunanidhi, Anuradha, Basu, Shakuntala, Zhao, Xue-Jun, D'Annibale, Olivia, Van't Land, Clinton, Vockley, Jerry, Mohsen, Al-Walid

Source: In Molecular Genetics and Metabolism November 2023 140(3)

Synthetic mRNA rescues very long-chain acyl-CoA dehydrogenase deficiency in patient fibroblasts and a murine model

Authors: Zhao, Xue-Jun, Mohsen, AI-Walid, Mihalik, Stephanie, Solo, Keaton, Aliu, Ermal, Shi, Huifang, Basu, Shakuntala, Kochersperger, Catherine, Van’t Land, Clinton, Karunanidhi, Anuradha, Coughlan, Kimberly A., Siddiqui, Summar, Rice, Lisa M., Hillier, Shawn, Guadagnin, Eleonora, Giangrande, Paloma H., Martini, Paolo G.V., Vockley, Jerry

Source: In Molecular Genetics and Metabolism January 2023 138(1)

ITCH deficiency clinical phenotype expansion and mitochondrial dysfunction

Authors: Wolfe, Rachel, Heiman, Paige, D'Annibale, Olivia, Karunanidhi, Anuradha, Powers, Alyssa, Mcguire, Marianne, Seminotti, Bianca, Dobrowolski, Steven F., Reyes-Múgica, Miguel, Torok, Kathryn S., Mohsen, Al-Walid, Vockley, Jerry, Ghaloul-Gonzalez, Lina

Source: In Molecular Genetics and Metabolism Reports December 2022 33

Medium branched chain fatty acids improve the profile of tricarboxylic acid cycle intermediates in mitochondrial fatty acid β‐oxidation deficient cells: A comparative study

Authors: Karunanidhi, Anuradha, Van't Land, Clinton, Rajasundaram, Dhivyaa, Grings, Mateus, Vockley, Jerry, Mohsen, Al‐Walid

Source: Journal of inherited metabolic disease. 45(3):541-556

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100154976212.0x000001&indx=1&recIds=ETOCvdc_100154976212.0x000001

Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis

Authors: D'Annibale, Olivia M., Koppes, Erik A., Alodaib, Ahmad N., Kochersperger, Catherine, Karunanidhi, Anuradha, Mohsen, Al-Walid, Vockley, Jerry

Source: In Molecular Genetics and Metabolism September-October 2021 134(1-2):29-36

Development and characterization of a mouse model for Acad9 deficiency

Authors: Sinsheimer, Andrew, Mohsen, Al-Walid, Bloom, Kailyn, Karunanidhi, Anuradha, Bharathi, Sivakama, Wu, Yijen L., Schiff, Manuel, Wang, Yudong, Goetzman, Eric S., Ghaloul-Gonzalez, Lina, Vockley, Jerry

Source: In Molecular Genetics and Metabolism September-October 2021 134(1-2):156-163

Clinical, biochemical, mitochondrial, and metabolomic aspects of methylmalonate semialdehyde dehydrogenase deficiency: Report of a fifth case

Authors: Dobrowolski, Steven F., Alodaib, Ahmad, Karunanidhi, Anuradha, Basu, Shrabini, Holecko, Meghan, Lichter-Konecki, Uta, Pappan, Kirk L., Vockley, Jerry

Source: In Molecular Genetics and Metabolism April 2020 129(4):272-277

EFFECT OF TRIHEPTANOIN AND MEDIUM BRANCHED-CHAIN FATTY ACIDS ON LYSINE SUCCINYLATION IN HUMAN MCAD DEFICIENT FIBROBLAST CELLS AND MURINE KO MODEL

Authors: Karunanidhi, Anuradha, Basu, Shakuntala, Zhao, Xuejun, Van't land, Clinton, Vockley, Jerry, Mohsen, Al-Walid

Source: Molecular genetics and metabolism. 138(3)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100196117285.0x000001&indx=1&recIds=ETOCvdc_100196117285.0x000001

ANAPLEROTIC COMPOUNDS IMPROVE O2CONSUMPTION AND RESTORE SUCCINYLLYSINE ANTIGENIC SIGNAL IN LONG-CHAIN FATTY ACID OXIDATION DEFICIENT CELLS

Authors: Seminotti, Bianca, Karunanidhi, Anuradha, Vockley, Jerry, Mohsen, Al-Walid

Source: Molecular genetics and metabolism. 138(3)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100196116830.0x000001&indx=1&recIds=ETOCvdc_100196116830.0x000001

ELAMIPRETIDE RESTORES MITOCHONDRIAL FUNCTION IN TRIFUNCTIONAL PROTEIN DEFICIENCY MICE AND HUMAN FIBROBLASTS

Authors: Neto, Eduardo Vieira, Wang, Yudong, Basu, Shakuntala, Zhao, Xuejun, Karunanidhi, Anuradha, Vockley, Jerry

Source: Molecular genetics and metabolism. 138(3)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100196116659.0x000001&indx=1&recIds=ETOCvdc_100196116659.0x000001

Reticular Dysgenesis and Mitochondriopathy Induced by Adenylate Kinase 2 Deficiency with Atypical Presentation

Authors: Ghaloul-Gonzalez, Lina, Mohsen, Al-Walid, Karunanidhi, Anuradha, Seminotti, Bianca, Chong, Hey, Madan-Khetarpal, Suneeta, Sebastian, Jessica, Vockley, Catherine, Reyes-Múgica, Miguel, Vander Lugt, Mark, Vockley, Jerry

Source: Scientific reports. 9(1):1-8

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100190886682.0x000001&indx=1&recIds=ETOCvdc_100190886682.0x000001

Evaluation of mitochondrial bioenergetics, dynamics, endoplasmic reticulum-mitochondria crosstalk, and reactive oxygen species in fibroblasts from patients with complex I deficiency

Authors: Leipnitz, Guilhian, Mohsen, Al-Walid, Karunanidhi, Anuradha, Seminotti, Bianca, Roginskaya, Vera, Markantone, Desiree, Grings, Mateus, Mihalik, Stephanie, Wipf, Peter, Houten, Bennett, Vockley, Jerry

Source: Scientific reports. 8(1):1-14

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100111621054.0x000001&indx=1&recIds=ETOCvdc_100111621054.0x000001

HEPTANOATE AND DERIVATIVES AS THERAPY FOR MCAD DEFICIENCY: PRECLINICAL EVIDENCE OF EFFICACY AND IMPLICATIONS FOR ANAPLEROTIC DRUG CLASS THERAPY

Authors: Mohsen, Al-Walid, Vockley, Jerry, Karunanidhi, Anuradha, Basu, Shakuntala, Zhao, Xue-Jun, D'Annable, Olivia

Source: Molecular genetics and metabolism. 135(4):288-289

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100157659827.0x000001&indx=1&recIds=ETOCvdc_100157659827.0x000001

Long-chain Acyl-CoA Dehydrogenase Deficiency as a Cause of Pulmonary Surfactant Dysfunction

Authors: Goetzman, Eric S., Alcorn, John F., Bharathi, Sivakama S., Uppala, Radha, McHugh, Kevin J., Kosmider, Beata, Chen, Rimei, Zuo, Yi Y., Beck, Megan E., McKinney, Richard W., Skilling, Helen, Suhrie, Kristen R., Karunanidhi, Anuradha, Yeasted, Renita, Otsubo, Chikara, Ellis, Bryon ^**, Tyurina, Yulia Y., Kagan, Valerian E., Mallampalli, Rama K. ^**, Vockley, Jerry

Source: In Journal of Biological Chemistry 11 April 2014 289(15):10668-10679

ACAD10 protein expression and Neurobehavioral assessment of Acad10-deficient mice.

Authors: Bloom, Kaitlyn¹ (AUTHOR), Karunanidhi, Anuradha¹ (AUTHOR), Tobita, Kimimasa¹ (AUTHOR), Hoppel, Charles² (AUTHOR), Thiels, Edda^3,4 (AUTHOR), Peet, Eloise^3,4 (AUTHOR), Wang, Yudong¹ (AUTHOR), Basu, Shrabani¹ (AUTHOR), Vockley, Jerry^1,5,6 (AUTHOR) gerard.vockley@chp.edu

Source: PLoS ONE. 12/10/2020, Vol. 15 Issue 12, p1-11. 11p.

Subject Terms: *PROTEIN expression, *FATTY acid oxidation, *WEIGHT gain, *PEROXISOMES, BRAIN metabolism

Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency

Authors: Schiff, Manuel, Mohsen, Al-Walid, Karunanidhi, Anuradha, McCracken, Elizabeth, Yeasted, Renita, Vockley, Jerry

Source: In Molecular Genetics and Metabolism May 2013 109(1):21-27

Messenger RNA rescues medium-chain acyl-CoA dehydrogenase deficiency in fibroblasts from patients and a murine model.

Authors: Zhao, Xue-Jun, Mohsen, Ai-Walid, Mihalik, Stephanie, Solo, Keaton, Basu, Shakuntala, Aliu, Ermal, Shi, Huifang, Kochersberger, Catherine, Karunanidhi, Anuradha, Land, Clinton Van't, Coughlan, Kimberly A, Siddiqui, Summar, Rice, Lisa M, Hillier, Shawn, Guadagnin, Eleonora, DeAntonis, Christine, Giangrande, Paloma H, Martini, Paolo G V, Vockley, Jerry

Source: Human Molecular Genetics; 7/15/2023, Vol. 32 Issue 14, p2347-2356, 10p

ETHE1 and MOCS1 deficiencies: Disruption of mitochondrial bioenergetics, dynamics, redox homeostasis and endoplasmic reticulum-mitochondria crosstalk in patient fibroblasts

Authors: Grings, Mateus, Seminotti, Bianca, Karunanidhi, Anuradha, Ghaloul-Gonzalez, Lina, Mohsen, Al-Walid, Wipf, Peter, Palmfeldt, Johan, Vockley, Jerry, Leipnitz, Guilhian

Source: Scientific reports. 9(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100131442685.0x000001&indx=1&recIds=ETOCvdc_100131442685.0x000001

Treatment of VLCAD-Deficient Patient Fibroblasts with Peroxisome Proliferator-Activated Receptor δ Agonist Improves Cellular Bioenergetics.

Authors: D'Annibale, Olivia M., Phua, Yu Leng, Van't Land, Clinton, Karunanidhi, Anuradha, Dorenbaum, Alejandro, Mohsen, Al-Walid, Vockley, Jerry

Source: Cells (2073-4409); Sep2022, Vol. 11 Issue 17, p2635, 18p

Subject Terms: PEROXISOME proliferator-activated receptors, BIOENERGETICS, ADOLESCENCE, FIBROBLASTS, GENE expression, MISSENSE mutation