Search Results - "Falk, Marni"

The pursuit of precision mitochondrial medicine: Harnessing preclinical cellular and animal models to optimize mitochondrial disease therapeutic discovery by Falk, Marni J.

“…Mitochondria share extensive evolutionary conservation across nearly all living species. This homology allows robust insights to be gained into…”
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Clinical effects of chemical exposures on mitochondrial function by Zolkipli-Cunningham, Zarazuela, Falk, Marni J.

“…Mitochondria are critical for the provision of ATP for cellular energy requirements. Tissue and organ functions are dependent on adequate ATP production,…”
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Innovative Genomic Collaboration Using the GENESIS (GEM.app) Platform by Gonzalez, Michael, Falk, Marni J., Gai, Xiaowu, Postrel, Richard, Schüle, Rebecca, Zuchner, Stephan

“…ABSTRACT Next‐generation sequencing has led to an unparalleled pace of Mendelian disease gene discovery in recent years. To address the challenges of analysis…”
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8-year retrospective analysis of intravenous arginine therapy for acute metabolic strokes in pediatric mitochondrial disease by Ganetzky, Rebecca D., Falk, Marni J.

“…Intravenous (IV) arginine has been reported to ameliorate acute metabolic stroke symptoms in adult patients with Mitochondrial Encephalopathy with Lactic…”
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Mitochondrial medicine therapies: rationale, evidence, and dosing guidelines by Barcelos, Isabella, Shadiack, Edward, Ganetzky, Rebecca D., Falk, Marni J.

“…Primary mitochondrial disease is a highly heterogeneous but collectively common inherited metabolic disorder, affecting at least one in 4300 individuals…”
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Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society by Parikh, Sumit, Goldstein, Amy, Koenig, Mary Kay, Scaglia, Fernando, Enns, Gregory M., Saneto, Russell, Anselm, Irina, Cohen, Bruce H., Falk, Marni J., Greene, Carol, Gropman, Andrea L., Haas, Richard, Hirano, Michio, Morgan, Phil, Sims, Katherine, Tarnopolsky, Mark, Van Hove, Johan L.K., Wolfe, Lynne, DiMauro, Salvatore

“…Purpose: The purpose of this statement is to review the literature regarding mitochondrial disease and to provide recommendations for optimal diagnosis and…”
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Mitochondrial disease patient motivations and barriers to participate in clinical trials by Zolkipli-Cunningham, Zarazuela, Xiao, Rui, Stoddart, Amy, McCormick, Elizabeth M, Holberts, Amy, Burrill, Natalie, McCormack, Shana, Williams, Lauren, Wang, Xiaoyan, Thompson, John L P, Falk, Marni J

“…Clinical treatment trials are increasingly being designed in primary mitochondrial disease (PMD), a phenotypically and genetically heterogeneous collection of…”
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MitoTALEN: A General Approach to Reduce Mutant mtDNA Loads and Restore Oxidative Phosphorylation Function in Mitochondrial Diseases by Hashimoto, Masami, Bacman, Sandra R, Peralta, Susana, Falk, Marni J, Chomyn, Anne, Chan, David C, Williams, Sion L, Moraes, Carlos T

“…We have designed mitochondrially targeted transcription activator-like effector nucleases or mitoTALENs to cleave specific sequences in the mitochondrial DNA…”
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Mitochondrial disease genetics update: recent insights into the molecular diagnosis and expanding phenotype of primary mitochondrial disease by McCormick, Elizabeth M, Zolkipli-Cunningham, Zarazuela, Falk, Marni J

“…Primary mitochondrial disease (PMD) is a genetically and phenotypically diverse group of inherited energy deficiency disorders caused by impaired mitochondrial…”
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GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers by Li, Dong, Yuan, Hongjie, Ortiz-Gonzalez, Xilma R., Marsh, Eric D., Tian, Lifeng, McCormick, Elizabeth M., Kosobucki, Gabrielle J., Chen, Wenjuan, Schulien, Anthony J., Chiavacci, Rosetta, Tankovic, Anel, Naase, Claudia, Brueckner, Frieder, von Stülpnagel-Steinbeis, Celina, Hu, Chun, Kusumoto, Hirofumi, Hedrich, Ulrike B.S., Elsen, Gina, Hörtnagel, Konstanze, Aizenman, Elias, Lemke, Johannes R., Hakonarson, Hakon, Traynelis, Stephen F., Falk, Marni J.

“…N-methyl-D-aspartate receptors (NMDARs) are ligand-gated cation channels that mediate excitatory synaptic transmission. Genetic mutations in multiple NMDAR…”
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Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation by McCormick, Elizabeth M., Lott, Marie T., Dulik, Matthew C., Shen, Lishuang, Attimonelli, Marcella, Vitale, Ornella, Karaa, Amel, Bai, Renkui, Pineda‐Alvarez, Daniel E., Singh, Larry N., Stanley, Christine M., Wong, Stacey, Bhardwaj, Anshu, Merkurjev, Daria, Mao, Rong, Sondheimer, Neal, Zhang, Shiping, Procaccio, Vincent, Wallace, Douglas C., Gai, Xiaowu, Falk, Marni J.

“…Mitochondrial DNA (mtDNA) variant pathogenicity interpretation has special considerations given unique features of the mtDNA genome, including maternal…”
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Molecular Genetic Testing for Mitochondrial Disease: From One Generation to the Next by McCormick, Elizabeth, Place, Emily, Falk, Marni J.

“…Molecular genetic diagnostic testing for mitochondrial disease has evolved continually since the first genetic basis for a clinical mitochondrial disease…”
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MT‐ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases by Ganetzky, Rebecca D., Stendel, Claudia, McCormick, Elizabeth M., Zolkipli‐Cunningham, Zarazuela, Goldstein, Amy C., Klopstock, Thomas, Falk, Marni J.

“…Mitochondrial complex V (CV) generates cellular energy as adenosine triphosphate (ATP). Mitochondrial disease caused by the m.8993T>G pathogenic variant in the…”
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Limitations of Preimplantation Genetic Diagnosis for Mitochondrial DNA Diseases by Mitalipov, Shoukhrat, Amato, Paula, Parry, Samuel, Falk, Marni J.

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Pharmacologic modeling of primary mitochondrial respiratory chain dysfunction in zebrafish by Byrnes, James, Ganetzky, Rebecca, Lightfoot, Richard, Tzeng, Michael, Nakamaru-Ogiso, Eiko, Seiler, Christoph, Falk, Marni J.

“…Mitochondrial respiratory chain (RC) disease is a heterogeneous and highly morbid group of energy deficiency disorders for which no proven effective therapies…”
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Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum by McCormick, Elizabeth M, Keller, Kierstin, Taylor, Julie P, Coffey, Alison J, Shen, Lishuang, Krotoski, Danuta, Harding, Brian, Gai, Xiaowu, Falk, Marni J, Zolkipli-Cunningham, Zarazuela, Rahman, Shamima

“…Primary mitochondrial diseases (PMDs) are heterogeneous disorders caused by inherited mitochondrial dysfunction. Classically defined neuropathologically as…”
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Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes by Gustafson, Margaret A, McCormick, Elizabeth M, Perera, Lalith, Longley, Matthew J, Bai, Renkui, Kong, Jianping, Dulik, Matthew, Shen, Lishuang, Goldstein, Amy C, McCormack, Shana E, Laskin, Benjamin L, Leroy, Bart P, Ortiz-Gonzalez, Xilma R, Ellington, Meredith G, Copeland, William C, Falk, Marni J

“…Mitochondrial DNA (mtDNA) genome integrity is essential for proper mitochondrial respiratory chain function to generate cellular energy. Nuclear genes encode…”
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Human Placental Transcriptome Reveals Critical Alterations in Inflammation and Energy Metabolism with Fetal Sex Differences in Spontaneous Preterm Birth by Lien, Yu-Chin, Zhang, Zhe, Cheng, Yi, Polyak, Erzsebet, Sillers, Laura, Falk, Marni J, Ischiropoulos, Harry, Parry, Samuel, Simmons, Rebecca A

“…A well-functioning placenta is crucial for normal gestation and regulates the nutrient, gas, and waste exchanges between the maternal and fetal circulations…”
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Mitochondrial Replacement Techniques — Implications for the Clinical Community by Falk, Marni J, Decherney, Alan, Kahn, Jeffrey P

“…An Institute of Medicine committee concluded that it's ethical to pursue clinical studies of mitochondrial replacement techniques, under certain conditions,…”
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Optimized Nutrition in Mitochondrial Disease Correlates to Improved Muscle Fatigue, Strength, and Quality of Life by DiVito, Donna, Wellik, Amanda, Burfield, Jessica, Peterson, James, Flickinger, Jean, Tindall, Alyssa, Albanowski, Kimberly, Vishnubhatt, Shailee, MacMullen, Laura, Martin, Isaac, Muraresku, Colleen, McCormick, Elizabeth, George-Sankoh, Ibrahim, McCormack, Shana, Goldstein, Amy, Ganetzky, Rebecca, Yudkoff, Marc, Xiao, Rui, Falk, Marni J., R. Mascarenhas, Maria, Zolkipli-Cunningham, Zarazuela

“…We sought to prospectively characterize the nutritional status of adults ≥ 19 years (n = 22, 27% males) and children (n = 38, 61% male) with…”
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