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)

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

Characterization of exonic variants of uncertain significance in very long‐chain acyl‐CoA dehydrogenase identified through newborn screening

Authors: D'Annibale, Olivia M., Koppes, Erik A., Sethuraman, Meena, Bloom, Kaitlyn, Mohsen, Al‐Walid, Vockley, Jerry

Source: Journal of inherited metabolic disease. 45(3):529-540

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100154976317.0x000001&indx=1&recIds=ETOCvdc_100154976317.0x000001

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

Molecular mechanism of interactions between ACAD9 and binding partners in mitochondrial respiratory complex I assembly

Authors: Xia, Chuanwu, Lou, Baoying, Fu, Zhuji, Mohsen, Al-Walid, Shen, Anna L., Vockley, Jerry, Kim, Jung-Ja P.

Source: In iScience 22 October 2021 24(10)

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

Very long chain fatty acid metabolism is required in acute myeloid leukemia

Authors: Tcheng, Matthew, Roma, Alessia, Ahmed, Nawaz, Smith, Richard W., Jayanth, Preethi, Minden, Mark D., Schimmer, Aaron D., Hess, David A., Hope, Kristin, Rea, Kevin A., Akhtar, Tariq A., Bohrnsen, Eric, D'Alessandro, Angelo, Mohsen, Al-Walid, Vockley, Jerry, Spagnuolo, Paul A. ^*

Source: In Blood 24 June 2021 137(25):3518-3532

Mitochondrial morphology, bioenergetics and proteomic responses in fatty acid oxidation disorders

Authors: Raimo, Serena, Zura-Miller, Gabriella, Fezelinia, Hossein, Spruce, Lynn A., Zakopoulos, Iordanis, Mohsen, Al-Walid, Vockley, Jerry, Ischiropoulos, Harry

Source: In Redox Biology May 2021 41

The mitochondrial‐targeted reactive species scavenger JP4‐039 prevents sulfite‐induced alterations in antioxidant defenses, energy transfer, and cell death signaling in striatum of rats

Authors: Glänzel, Nícolas Manzke, Grings, Mateus, da Rosa‐Junior, Nevton Teixeira, Carvalho, Leila Maria Cereta, Mohsen, Al‐Walid, Wipf, Peter, Wajner, Moacir, Vockley, Jerry, Leipnitz, Guilhian

Source: Journal of inherited metabolic disease. 44(2):481-491

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100138922507.0x000001&indx=1&recIds=ETOCvdc_100138922507.0x000001

Novel GUCY2C variant causing familial diarrhea in a Mennonite kindred and a potential therapeutic approach

Authors: Wolfe, Rachel M., Mohsen, Al‐Walid, Walsh Vockley, Cate, Bertrand, Carol A., Nicholls, Robert D., Heiman, Paige, Seibold, Leah M., Vockley, Jerry, Ghaloul‐Gonzalez, Lina

Source: American journal of medical genetics.Part A. 185(7):2046-2055

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100125392342.0x000001&indx=1&recIds=ETOCvdc_100125392342.0x000001

A VLCAD/LCAD MUSCLE DOUBLE KNOCK OUT MOUSE MODEL

Authors: Basu, Shakuntala, Seminotti, Bianca, Zhao, Xuejun, Mohsen, Al-Walid, Goetzman, Eric S., 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_100196118494.0x000001&indx=1&recIds=ETOCvdc_100196118494.0x000001

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

An acyl-CoA dehydrogenase microplate activity assay using recombinant porcine electron transfer flavoprotein

Authors: Zhang, Yuxun, Mohsen, Al-Walid, Kochersperger, Catherine, Solo, Keaton, Schmidt, Alexandra V., Vockley, Jerry, Goetzman, Eric S.

Source: In Analytical Biochemistry 15 September 2019 581

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

Mitochondrial dysfunction associated with TANGO2 deficiency.

Authors: Heiman, Paige¹ (AUTHOR), Mohsen, Al-Walid^1,2 (AUTHOR), Karunanidhi, Anuradha¹ (AUTHOR), St Croix, Claudette³ (AUTHOR), Watkins, Simon³ (AUTHOR), Koppes, Erik¹ (AUTHOR), Haas, Richard⁴ (AUTHOR), Vockley, Jerry^1,2 (AUTHOR), Ghaloul-Gonzalez, Lina^1,2 (AUTHOR) Lina.Gonzalez@chp.edu

Source: Scientific Reports. 2/23/2022, Vol. 12 Issue 1, p1-11. 11p.

Subject Terms: *OXYGEN consumption, *MITOCHONDRIA, *ARRHYTHMIA, *LACTIC acidosis, *DEVELOPMENTAL delay, *BIOENERGETICS, *DYSTROPHY

O17: Characterizing pathogenicity of ACADVL variants in very long-chain acyl-CoA dehydrogenase deficiency

Authors: Sethuraman, Meena, Koppes, Erik, Scola, Kaitlyn, Bloom, Kaitlyn, Mohsen, Al-Walid, Vockley, Jerry

Source: In Genetics in Medicine Open 2024 2 Supplement 1

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