Succinyl-CoA Synthetase Dysfunction as a Mechanism of Mitochondrial Encephalomyopathy: More than Just an Oxidative Energy Deficit

por Lancaster, Makayla S., Graham, Brett H.
Publicado 2023

Screen for abnormal mitochondrial phenotypes in mouse embryonic stem cells identifies a model for succinyl-CoA ligase deficiency and mtDNA depletion

por Donti, Taraka R., Stromberger, Carmen, Ge, Ming, Eldin, Karen W., Craigen, William J., Graham, Brett H.
Publicado 2014

Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology

por Craigen, William J, Graham, Brett H, Wong, Lee-Jun, Scaglia, Fernando, Lewis, Richard Alan, Bonnen, Penelope E
Publicado 2013

Mitochondrial Dysfunction Mediated by Poly(ADP-Ribose) Polymerase-1 Activation Contributes to Hippocampal Neuronal Damage Following Status Epilepticus

por Lai, Yi-Chen, Baker, J. Scott, Donti, Taraka, Graham, Brett H., Craigen, William J., Anderson, Anne E.
Publicado 2017

Untargeted Metabolomics of Slc13a5 Deficiency Reveal Critical Liver–Brain Axis for Lipid Homeostasis

por Milosavljevic, Sofia, Glinton, Kevin E., Li, Xiqi, Medeiros, Cláudia, Gillespie, Patrick, Seavitt, John R., Graham, Brett H., Elsea, Sarah H.
Publicado 2022

Impaired Mitochondrial Energy Production Causes Light-Induced Photoreceptor Degeneration Independent of Oxidative Stress

por Jaiswal, Manish, Haelterman, Nele A., Sandoval, Hector, Xiong, Bo, Donti, Taraka, Kalsotra, Auinash, Yamamoto, Shinya, Cooper, Thomas A., Graham, Brett H., Bellen, Hugo J.
Publicado 2015

Correction: Impaired Mitochondrial Energy Production Causes Light-Induced Photoreceptor Degeneration Independent of Oxidative Stress

por Jaiswal, Manish, Haelterman, Nele A., Sandoval, Hector, Xiong, Bo, Donti, Taraka, Kalsotra, Auinash, Yamamoto, Shinya, Cooper, Thomas A., Graham, Brett H., Bellen, Hugo J.
Publicado 2018

The C8ORF38 homologue Sicily is a cytosolic chaperone for a mitochondrial complex I subunit

por Zhang, Ke, Li, Zhihong, Jaiswal, Manish, Bayat, Vafa, Xiong, Bo, Sandoval, Hector, Charng, Wu-Lin, David, Gabriela, Haueter, Claire, Yamamoto, Shinya, Graham, Brett H., Bellen, Hugo J.
Publicado 2013

Myokine mediated muscle-kidney crosstalk suppresses metabolic reprogramming and fibrosis in damaged kidneys

por Peng, Hui, Wang, Qianqian, Lou, Tanqi, Qin, Jun, Jung, Sungyun, Shetty, Vivekananda, Li, Feng, Wang, Yanlin, Feng, Xin-hua, Mitch, William E., Graham, Brett H., Hu, Zhaoyong
Publicado 2017

Mechanistic Investigation of GHS-R Mediated Glucose-Stimulated Insulin Secretion in Pancreatic Islets

por Pradhan, Geetali, Lee, Jong Han, Wu, Chia-Shan, Wang, Hongying, Lin, Ligen, Donti, Taraka, Graham, Brett H., Rajan, Arun S., Balasubramanyam, Ashok, Samson, Susan L., Guo, Shaodong, Sun, Yuxiang
Publicado 2022

Loss of Frataxin induces iron toxicity, sphingolipid synthesis, and Pdk1/Mef2 activation, leading to neurodegeneration

por Chen, Kuchuan, Lin, Guang, Haelterman, Nele A, Ho, Tammy Szu-Yu, Li, Tongchao, Li, Zhihong, Duraine, Lita, Graham, Brett H, Jaiswal, Manish, Yamamoto, Shinya, Rasband, Matthew N, Bellen, Hugo J
Publicado 2016

Characterization of a novel deep-intronic variant in DYNC2H1 identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type III

por Buchh, Muqsit, Gillespie, Patrick J., Treat, Kayla, Abreu, Marco A., Schwantes-An, Tae-Hwi Linus, Helm, Benjamin M., Fang, Fang, Xuei, Xiaoling, Mantcheva, Lili, Suhrie, Kristen R., Graham, Brett H., Conboy, Erin, Vetrini, Francesco
Publicado 2022

Mitochondrial fusion but not fission regulates larval growth and synaptic development through steroid hormone production

por Sandoval, Hector, Yao, Chi-Kuang, Chen, Kuchuan, Jaiswal, Manish, Donti, Taraka, Lin, Yong Qi, Bayat, Vafa, Xiong, Bo, Zhang, Ke, David, Gabriela, Charng, Wu-Lin, Yamamoto, Shinya, Duraine, Lita, Graham, Brett H, Bellen, Hugo J
Publicado 2014

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

por Bainbridge, Matthew N, Hu, Hao, Muzny, Donna M, Musante, Luciana, Lupski, James R, Graham, Brett H, Chen, Wei, Gripp, Karen W, Jenny, Kim, Wienker, Thomas F, Yang, Yaping, Sutton, V Reid, Gibbs, Richard A, Ropers, H Hilger
Publicado 2013

Loss of succinyl-CoA synthetase in mouse forebrain results in hypersuccinylation with perturbed neuronal transcription and metabolism

por Lancaster, Makayla S., Kim, Byungwook, Doud, Emma H., Tate, Mason D., Sharify, Ahmad D., Gao, Hongyu, Chen, Duojiao, Simpson, Ed, Gillespie, Patrick, Chu, Xiaona, Miller, Marcus J., Wang, Yue, Liu, Yunlong, Mosley, Amber L., Kim, Jungsu, Graham, Brett H.
Publicado 2023

Increased COUP-TFII expression in adult hearts induces mitochondrial dysfunction resulting in heart failure

por Wu, San-Pin, Kao, Chung-Yang, Wang, Leiming, Creighton, Chad J., Yang, Jin, Donti, Taraka R., Harmancey, Romain, Vasquez, Hernan G., Graham, Brett H., Bellen, Hugo J., Taegtmeyer, Heinrich, Chang, Ching-Pin, Tsai, Ming-Jer, Tsai, Sophia Y.
Publicado 2015

Peroxisomal biogenesis is genetically and biochemically linked to carbohydrate metabolism in Drosophila and mouse

por Wangler, Michael F., Chao, Yu-Hsin, Bayat, Vafa, Giagtzoglou, Nikolaos, Shinde, Abhijit Babaji, Putluri, Nagireddy, Coarfa, Cristian, Donti, Taraka, Graham, Brett H., Faust, Joseph E., McNew, James A., Moser, Ann, Sardiello, Marco, Baes, Myriam, Bellen, Hugo J.
Publicado 2017

Impaired mitochondrial complex I function as a candidate driver in the biological stress response and a concomitant stress-induced brain metabolic reprogramming in male mice

por Emmerzaal, Tim L., Preston, Graeme, Geenen, Bram, Verweij, Vivienne, Wiesmann, Maximilian, Vasileiou, Elisavet, Grüter, Femke, de Groot, Corné, Schoorl, Jeroen, de Veer, Renske, Roelofs, Monica, Arts, Martijn, Hendriksen, Yara, Klimars, Eva, Donti, Taraka R., Graham, Brett H., Morava, Eva, Rodenburg, Richard J., Kozicz, Tamas
Publicado 2020

Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans

por Bayat, Vafa, Thiffault, Isabelle, Jaiswal, Manish, Tétreault, Martine, Donti, Taraka, Sasarman, Florin, Bernard, Geneviève, Demers-Lamarche, Julie, Dicaire, Marie-Josée, Mathieu, Jean, Vanasse, Michel, Bouchard, Jean-Pierre, Rioux, Marie-France, Lourenco, Charles M., Li, Zhihong, Haueter, Claire, Shoubridge, Eric A., Graham, Brett H., Brais, Bernard, Bellen, Hugo J.
Publicado 2012

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

por Montaño, Adriana M, Lock-Hock, Ngu, Steiner, Robert D, Graham, Brett H, Szlago, Marina, Greenstein, Robert, Pineda, Mercedes, Gonzalez-Meneses, Antonio, Çoker, Mahmut, Bartholomew, Dennis, Sands, Mark S, Wang, Raymond, Giugliani, Roberto, Macaya, Alfons, Pastores, Gregory, Ketko, Anastasia K, Ezgü, Fatih, Tanaka, Akemi, Arash, Laila, Beck, Michael, Falk, Rena E, Bhattacharya, Kaustuv, Franco, José, White, Klane K, Mitchell, Grant A, Cimbalistiene, Loreta, Holtz, Max, Sly, William S
Publicado 2016