Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment
Balderas, Enrique, Eberhardt, David R, Lee, Sandra, Pleinis, John M, Sommakia, Salah, Balynas, Anthony M, Yin, Xue, Parker, Mitchell C, Maguire, Colin T, Cho, Scott, Szulik, Marta W, Bakhtina, Anna, Bia, Ryan D, Friederich, Marisa W, Locke, Timothy M, Van Hove, Johan L K, Drakos, Stavros G, Sancak, Yasemin, Tristani-Firouzi, Martin, Franklin, Sarah, Rodan, Aylin R, Chaudhuri, Dipayan
Published in Nature communications (19.05.2022)
Published in Nature communications (19.05.2022)
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Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease
Friederich, Marisa W., Elias, Abdallah F., Kuster, Alice, Laugwitz, Lucia, Larson, Austin A., Landry, Aaron P., Ellwood‐Digel, Logan, Mirsky, David M., Dimmock, David, Haven, Jaclyn, Jiang, Hua, MacLean, Kenneth N., Styren, Katie, Schoof, Jonathan, Goujon, Louise, Lefrancois, Thomas, Friederich, Maike, Coughlin, Curtis R., Banerjee, Ruma, Haack, Tobias B., Van Hove, Johan L. K.
Published in Journal of inherited metabolic disease (01.09.2020)
Published in Journal of inherited metabolic disease (01.09.2020)
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Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly
Friederich, Marisa W, Erdogan, Alican J, Coughlin, 2nd, Curtis R, Elos, Mihret T, Jiang, Hua, O'Rourke, Courtney P, Lovell, Mark A, Wartchow, Eric, Gowan, Katherine, Chatfield, Kathryn C, Chick, Wallace S, Spector, Elaine B, Van Hove, Johan L K, Riemer, Jan
Published in Human molecular genetics (15.02.2017)
Published in Human molecular genetics (15.02.2017)
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Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia
Bjoraker, Kendra J., PhD, Swanson, Michael A., PhD, Coughlin, Curtis R., MS, MBe, Christodoulou, John, MB, BS, PhD, Tan, Ee S., MB, BS, Fergeson, Mark, MD, Dyack, Sarah, MD, Ahmad, Ayesha, MD, Friederich, Marisa W., PhD, Spector, Elaine B., PhD, Creadon-Swindell, Geralyn, BS, Hodge, M. Antoinette, DPsych, Gaughan, Sommer, RD, Burns, Casey, RD, Van Hove, Johan L.K., MD, PhD
Published in The Journal of pediatrics (01.03.2016)
Published in The Journal of pediatrics (01.03.2016)
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Identification of a novel biomarker for pyridoxine‐dependent epilepsy: Implications for newborn screening
Wempe, Michael F., Kumar, Amit, Kumar, Vijay, Choi, Yu J., Swanson, Michael A., Friederich, Marisa W., Hyland, Keith, Yue, Wyatt W., Van Hove, Johan L. K., Coughlin, Curtis R.
Published in Journal of inherited metabolic disease (01.05.2019)
Published in Journal of inherited metabolic disease (01.05.2019)
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Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood
Vögtle, F.-Nora, Brändl, Björn, Larson, Austin, Pendziwiat, Manuela, Friederich, Marisa W., White, Susan M., Basinger, Alice, Kücükköse, Cansu, Muhle, Hiltrud, Jähn, Johanna A., Keminer, Oliver, Helbig, Katherine L., Delto, Carolyn F., Myketin, Lisa, Mossmann, Dirk, Burger, Nils, Miyake, Noriko, Burnett, Audrey, van Baalen, Andreas, Lovell, Mark A., Matsumoto, Naomichi, Walsh, Maie, Yu, Hung-Chun, Shinde, Deepali N., Stephani, Ulrich, Van Hove, Johan L.K., Müller, Franz-Josef, Helbig, Ingo
Published in American journal of human genetics (05.04.2018)
Published in American journal of human genetics (05.04.2018)
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Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia
Swanson, Michael A., Miller, Kristen, Young, Sarah P., Tong, Suhong, Ghaloul‐Gonzalez, Lina, Neira‐Fresneda, Juanita, Schlichting, Lisa, Peck, Cheryl, Gabel, Linda, Friederich, Marisa W., Van Hove, Johan L. K.
Published in Journal of inherited metabolic disease (01.07.2022)
Published in Journal of inherited metabolic disease (01.07.2022)
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Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder
Coughlin, Curtis R, Scharer, Gunter H, Friederich, Marisa W, Yu, Hung-Chun, Geiger, Elizabeth A, Creadon-Swindell, Geralyn, Collins, Abigail E, Vanlander, Arnaud V, Coster, Rudy Van, Powell, Christopher A, Swanson, Michael A, Minczuk, Michal, Van Hove, Johan L K, Shaikh, Tamim H
Published in Journal of medical genetics (01.08.2015)
Published in Journal of medical genetics (01.08.2015)
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Deep postnatal phenotyping of a new mouse model of nonketotic hyperglycinemia
Swanson, Michael A, Jiang, Hua, Busquet, Nicolas, Carlsen, Jessica, Brindley, Connie, Benke, Tim A, Van Hove, Roxanne A, Friederich, Marisa W, MacLean, Kenneth N, Mesches, Michael H, Van Hove, Johan L K
Published in Journal of inherited metabolic disease (05.06.2024)
Published in Journal of inherited metabolic disease (05.06.2024)
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A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families
Ganapathi, Mythily, Friocourt, Gaelle, Gueguen, Naig, Friederich, Marisa W., Le Gac, Gerald, Okur, Volkan, Loaëc, Nadège, Ludwig, Thomas, Ka, Chandran, Tanji, Kurenai, Marcorelles, Pascale, Theodorou, Evangelos, Lignelli‐Dipple, Angela, Voisset, Cécile, Walker, Melissa A., Briere, Lauren C., Bourhis, Amélie, Blondel, Marc, LeDuc, Charles, Hagen, Jacob, Cooper, Cathleen, Muraresku, Colleen, Ferec, Claude, Garenne, Armelle, Lelez‐Soquet, Servane, Rogers, Cassandra A., Shen, Yufeng, Strode, Dana K., Bizargity, Peyman, Iglesias, Alejandro, Goldstein, Amy, High, Frances A., Network, Undiagnosed Diseases, Sweetser, David A., Ganetzky, Rebecca, Van Hove, Johan L. K., Procaccio, Vincent, Le Marechal, Cedric, Chung, Wendy K.
Published in Journal of inherited metabolic disease (01.09.2022)
Published in Journal of inherited metabolic disease (01.09.2022)
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Author Correction: Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment
Balderas, Enrique, Eberhardt, David R, Lee, Sandra, Pleinis, John M, Sommakia, Salah, Balynas, Anthony M, Yin, Xue, Parker, Mitchell C, Maguire, Colin T, Cho, Scott, Szulik, Marta W, Bakhtina, Anna, Bia, Ryan D, Friederich, Marisa W, Locke, Timothy M, Van Hove, Johan L K, Drakos, Stavros G, Sancak, Yasemin, Tristani-Firouzi, Martin, Franklin, Sarah, Rodan, Aylin R, Chaudhuri, Dipayan
Published in Nature communications (20.06.2022)
Published in Nature communications (20.06.2022)
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Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect
Friederich, Marisa W., Geddes, Gabrielle C., Wortmann, Saskia B., Punnoose, Ann, Wartchow, Eric, Knight, Kaz M., Prokisch, Holger, Creadon-Swindell, Geralyn, Mayr, Johannes A., Van Hove, Johan L.K.
Published in Molecular genetics and metabolism (01.08.2021)
Published in Molecular genetics and metabolism (01.08.2021)
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Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement
Friederich, Marisa W., Perez, Francisco A., Knight, Kaz M., Van Hove, Roxanne A., Yang, Samuel P., Saneto, Russell P., Van Hove, Johan L.K.
Published in Molecular genetics and metabolism (01.03.2020)
Published in Molecular genetics and metabolism (01.03.2020)
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ACAD9 treatment with bezafibrate and nicotinamide riboside temporarily stabilizes cardiomyopathy and lactic acidosis
Van Hove, Johan L.K., Friederich, Marisa W., Hock, Daniella H., Stroud, David A., Caruana, Nikeisha J., Christians, Uwe, Schniedewind, Björn, Michel, Cole R., Reisdorph, Richard, Lopez Gonzalez, Edwin D.J., Brenner, Charles, Donovan, Tonia E., Lee, Jessica C., Chatfield, Kathryn C., Larson, Austin A., Baker, Peter R., McCandless, Shawn E., Moore Burk, Meghan F.
Published in Mitochondrion (01.09.2024)
Published in Mitochondrion (01.09.2024)
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Clinical and biochemical characterization of four patients with mutations in ECHS1
Ferdinandusse, Sacha, Friederich, Marisa W, Burlina, Alberto, Ruiter, Jos P N, Coughlin, 2nd, Curtis R, Dishop, Megan K, Gallagher, Renata C, Bedoyan, Jirair K, Vaz, Frédéric M, Waterham, Hans R, Gowan, Katherine, Chatfield, Kathryn, Bloom, Kaitlyn, Bennett, Michael J, Elpeleg, Orly, Van Hove, Johan L K, Wanders, Ronald J A
Published in Orphanet journal of rare diseases (18.06.2015)
Published in Orphanet journal of rare diseases (18.06.2015)
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Expanding the phenotypic and molecular spectrum of NFS1‐related disorders that cause functional deficiencies in mitochondrial and cytosolic iron–sulfur cluster containing enzymes
Yang, Jennifer H., Friederich, Marisa W., Ellsworth, Katarzyna A., Frederick, Aliya, Foreman, Emily, Malicki, Denise, Dimmock, David, Lenberg, Jerica, Prasad, Chitra, Yu, Andrea C., Anthony Rupar, C., Hegele, Robert A., Manickam, Kandamurugu, Koboldt, Daniel C., Crist, Erin, Choi, Samantha S., Farhan, Sali M.K., Harvey, Helen, Sattar, Shifteh, Karp, Natalya, Wong, Terence, Haas, Richard, Van Hove, Johan L. K., Wigby, Kristen
Published in Human mutation (01.03.2022)
Published in Human mutation (01.03.2022)
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Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing
Chatfield, Kathryn C, Coughlin, 2nd, Curtis R, Friederich, Marisa W, Gallagher, Renata C, Hesselberth, Jay R, Lovell, Mark A, Ofman, Rob, Swanson, Michael A, Thomas, Janet A, Wanders, Ronald J A, Wartchow, Eric P, Van Hove, Johan L K
Published in Mitochondrion (01.03.2015)
Published in Mitochondrion (01.03.2015)
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A novel acceptor stem variant in mitochondrial tRNATyr impairs mitochondrial translation and is associated with a severe phenotype
Kripps, Kimberly A., Friederich, Marisa W., Chen, Ting, Larson, Austin A., Mirsky, David M., Wang, Yue, Tanji, Kurenai, Knight, Kaz M., Wong, Lee-Jun, Van Hove, Johan L.K.
Published in Molecular genetics and metabolism (01.12.2020)
Published in Molecular genetics and metabolism (01.12.2020)
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The mitochondrial DNA variant m.9032T > C in MT-ATP6 encoding p.(Leu169Pro) causes a complex mitochondrial neurological syndrome
Knight, Kaz M., Shelkowitz, Emily, Larson, Austin A., Mirsky, David M., Wang, Yue, Chen, Ting, Wong, Lee-Jun, Friederich, Marisa W., Van Hove, Johan L.K.
Published in Mitochondrion (01.11.2020)
Published in Mitochondrion (01.11.2020)
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X-Linked Cobalamin Disorder ( HCFC1 ) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid
Scalais, Emmanuel, MD, Osterheld, Elise, MD, Weitzel, Christiane, MD, De Meirleir, Linda, MD, PhD, Mataigne, Frederic, MD, Martens, Geert, MD, PhD, Shaikh, Tamim H., PhD, Coughlin, Curtis R., MS, MBe, Yu, Hung-Chun, PhD, Swanson, Michael, PhD, Friederich, Marisa W., PhD, Scharer, Gunter, MD, PhD, Helbling, Daniel, MS, Wendt-Andrae, Jamie, BS, MB (ASCP) CM, Van Hove, Johan L.K., MD, PhD
Published in Pediatric neurology (01.06.2017)
Published in Pediatric neurology (01.06.2017)
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