Search Results - "Simon, Mariella"

Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion by Stiles, Ashlee R., Simon, Mariella T., Stover, Alexander, Eftekharian, Shaya, Khanlou, Negar, Wang, Hanlin L., Magaki, Shino, Lee, Hane, Partynski, Kate, Dorrani, Nagmeh, Chang, Richard, Martinez-Agosto, Julian A., Abdenur, Jose E.

“…In humans, mitochondrial DNA (mtDNA) depletion syndromes are a group of genetically and clinically heterogeneous autosomal recessive disorders that arise as a…”
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Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes by Simon, Mariella T., Eftekharian, Shaya S., Stover, Alexander E., Osborne, Aaron F., Braffman, Bruce H., Chang, Richard C., Wang, Raymond Y., Steenari, Maija R., Tang, Sha, Hwu, Paul Wuh-Liang, Taft, Ryan J., Benke, Paul J., Abdenur, Jose E.

“…Primary mitochondrial complex I deficiency is the most common defect of the mitochondrial respiratory chain. It is caused by defects in structural components…”
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ECHS1 disease in two unrelated families of Samoan descent: Common variant ‐ rare disorder by Simon, Mariella T., Eftekharian, Shaya S., Ferdinandusse, Sacha, Tang, Sha, Naseri, Take, Reupena, Muagututi'a Sefuiva, McGarvey, Stephen T., Minster, Ryan L., Weeks, Daniel E., Nguyen, Daniel D., Lee, Sansan, Ellsworth, Katarzyna A., Vaz, Frédéric M., Dimmock, David, Pitt, James, Abdenur, Jose E.

“…Mutations in the short‐chain enoyl‐CoA hydratase (SCEH) gene, ECHS1, cause a rare autosomal recessive disorder of valine catabolism. Patients usually present…”
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Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans by Ji, Fuyun, Sharpley, Mark S, Derbeneva, Olga, Alves, Leonardo Scherer, Qian, Pin, Wang, Yaoli, Chalkia, Dimitra, Lvova, Maria, Xu, Jiancheng, Yao, Wei, Simon, Mariella, Platt, Julia, Xu, Shiqin, Angelin, Alessia, Davila, Antonio, Huang, Taosheng, Wang, Ping H, Chuang, Lee-Ming, Moore, Lorna G, Qian, Guisheng, Wallace, Douglas C

“…The distinction between mild pathogenic mtDNA mutations and population polymorphisms can be ambiguous because both are homoplasmic, alter conserved functions,…”
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Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome by Simon, Mariella, Richard, Elodie M, Wang, Xinjian, Shahzad, Mohsin, Huang, Vincent H, Qaiser, Tanveer A, Potluri, Prasanth, Mahl, Sarah E, Davila, Antonio, Nazli, Sabiha, Hancock, Saege, Yu, Margret, Gargus, Jay, Chang, Richard, Al-Sheqaih, Nada, Newman, William G, Abdenur, Jose, Starr, Arnold, Hegde, Rashmi, Dorn, Thomas, Busch, Anke, Park, Eddie, Wu, Jie, Schwenzer, Hagen, Flierl, Adrian, Florentz, Catherine, Sissler, Marie, Khan, Shaheen N, Li, Ronghua, Guan, Min-Xin, Friedman, Thomas B, Wu, Doris K, Procaccio, Vincent, Riazuddin, Sheikh, Wallace, Douglas C, Ahmed, Zubair M, Huang, Taosheng, Riazuddin, Saima

“…Here we demonstrate association of variants in the mitochondrial asparaginyl-tRNA synthetase NARS2 with human hearing loss and Leigh syndrome. A homozygous…”
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Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup by Strauss, Kevin A., DuBiner, Lauren, Simon, Mariella, Zaragoza, Michael, Sengupta, Partho P., Li, Peng, Narula, Navneet, Dreike, Sandra, Platt, Julia, Procaccio, Vincent, Ortiz-González, Xilma R., Puffenberger, Erik G., Kelley, Richard I., Morton, D. Holmes, Narula, Jagat, Wallace, Douglas C.

“…Mutations of both nuclear and mitochondrial DNA (mtDNA)–encoded mitochondrial proteins can cause cardiomyopathy associated with mitochondrial dysfunction…”
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Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel DARS2 mutation by Huang, Wei-Lin, Steenari, Maija R., Barrick, Rebekah, Simon, Mariella T., Chang, Richard, Eftekharian, Shaya S., Stover, Alexander, Schwartz, Philip H., Latini, Alexandra, Abdenur, Jose E.

“…LBSL is a mitochondrial disorder caused by mutations in the mitochondrial aspartyl-tRNA synthetase gene DARS2, resulting in a distinctive pattern on brain…”
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Mitochondrial and ion channel gene alterations in autism by Smith, Moyra, Flodman, Pamela L., Gargus, John J., Simon, Mariella T., Verrell, Kimberley, Haas, Richard, Reiner, Gail E., Naviaux, Robert, Osann, Katherine, Spence, M. Anne, Wallace, Douglas C.

“…To evaluate the potential importance in autistic subjects of copy number variants (CNVs) that alter genes of relevance to bioenergetics, ionic metabolism, and…”
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Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency by Simon, Mariella T, Ng, Bobby G, Friederich, Marisa W, Wang, Raymond Y, Boyer, Monica, Kircher, Martin, Collard, Renata, Buckingham, Kati J, Chang, Richard, Shendure, Jay, Nickerson, Deborah A, Bamshad, Michael J, Van Hove, Johan L K, Freeze, Hudson H, Abdenur, Jose E

“…We report the clinical, biochemical, and molecular findings in two brothers with encephalopathy and multi-systemic disease. Abnormal transferrin glycoforms…”
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LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION (LBSL): NOVEL DARS2 MUTATION AND FURTHER EVIDENCE OF MITOCHONDRIAL DYSFUNCTION IN FIBROBLASTS by Huang, Wei-Lin, Simon, Mariella, Stover, Alexander, Chang, Richard, Schwartz, Philip, Abdenur, Jose E.

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LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION (LBSL): NOVEL MUTATION AND FURTHER EVIDENCE OF MITOCHONDRIAL DYSFUNCTION IN FIBROBLASTS by Huang, Wei-Lin, Simon, Mariella, Stover, Alexander, Chang, Richard, Schwartz, Philip, Abdenur, Jose E.

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Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss by Klein, Christopher J, Botuyan, Maria-Victoria, Wu, Yanhong, Ward, Christopher J, Nicholson, Garth A, Hammans, Simon, Hojo, Kaori, Yamanishi, Hiromitch, Karpf, Adam R, Wallace, Douglas C, Simon, Mariella, Lander, Cecilie, Boardman, Lisa A, Cunningham, Julie M, Smith, Glenn E, Litchy, William J, Boes, Benjamin, Atkinson, Elizabeth J, Middha, Sumit, B Dyck, P James, Parisi, Joseph E, Mer, Georges, Smith, David I, Dyck, Peter J

“…Christopher Klein and colleagues report that DNMT1 is disrupted in hereditary sensory neuropathy with dementia and hearing loss. The mutations lead to reduced…”
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A NEW CASE OF SFXN4 (SIDEROFLEXIN-4): NOVEL MUTATION AND FURTHER EVIDENCE OF MITOCHONDRIAL DYSFUNCTION IN FIBROBLASTS by Huang, Wei-Lin, Chapel-Crespo, Cristel C., Bressi, Rebekah, Simon, Mariella T., Stover, Alexander, Nguyen, Daniel, Schwartz, Philip, Abdenur, Jose E.

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A NEW CASE OF (SIDEROFLEXIN-4): NOVEL MUTATION AND FURTHER EVIDENCE OF MITOCHONDRIAL DYSFUNCTION IN FIBROBLASTS by Huang, Wei-Lin, Chapel-Crespo, Cristel C., Bressi, Rebekah, Simon, Mariella T., Stover, Alexander, Nguyen, Daniel, Schwartz, Philip, Abdenur, Jose E.

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The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency by Keshavan, Nandaki, Abdenur, Jose, Anderson, Glenn, Assouline, Zahra, Barcia, Giulia, Bouhikbar, Lamia, Chakrapani, Anupam, Cleary, Maureen, Cohen, Marta C., Feillet, François, Fratter, Carl, Hauser, Natalie, Jacques, Tom, Lam, Amanda, McCullagh, Helen, Phadke, Rahul, Rötig, Agnès, Sharrard, Mark, Simon, Mariella, Smith, Conrad, Sommerville, Ewen W., Taylor, Robert W., Yue, Wyatt W., Rahman, Shamima

“…Purpose Mitochondrial DNA (mtDNA) depletion syndrome (MDDS) encompasses a group of genetic disorders of mtDNA maintenance. Mutation of RRM2B is an uncommon…”
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Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome by Schwartzentruber, Jeremy, Buhas, Daniela, Majewski, Jacek, Sasarman, Florin, Papillon-Cavanagh, Simon, Thiffaut, Isabelle, Sheldon, Katherine M., Massicotte, Christine, Patry, Lysanne, Simon, Mariella, Zare, Amir S., McKernan, Kevin J., Michaud, Jacques, Boles, Richard G., Deal, Cheri L., Desilets, Valerie, Shoubridge, Eric A., Samuels, Mark E.

“…ABSTRACT Mutations in the nuclear‐encoded mitochondrial aminoacyl–tRNA synthetases are associated with a range of clinical phenotypes. Here, we report a novel…”
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Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia by Mehta, SG, Khare, M, Ramani, R, Watts, GDJ, Simon, M, Osann, KE, Donkervoort, S, Dec, E, Nalbandian, A, Platt, J, Pasquali, M, Wang, A, Mozaffar, T, Smith, CD, Kimonis, VE

“…Valosin containing protein (VCP) disease associated with inclusion body myopathy, Paget disease of the bone and frontotemporal dementia is a progressive…”
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A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease by Potluri, Prasanth, Davila, Antonio, Ruiz-Pesini, Eduardo, Mishmar, Dan, O’Hearn, Sean, Hancock, Saege, Simon, Mariella, Scheffler, Immo E., Wallace, Douglas C., Procaccio, Vincent

“…Mitochondrial diseases have been shown to result from mutations in mitochondrial genes located in either the nuclear DNA (nDNA) or mitochondrial DNA (mtDNA)…”
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Heteroplasmic mutations of the mitochondrial genome cause paradoxical effects on mitochondrial functions by Zhang, Chengkang, Huang, Vincent H., Simon, Mariella, Sharma, Lokendra K., Fan, Weiwei, Haas, Richard, Wallace, Douglas C., Bai, Yidong, Huang, Taosheng

“…Mitochondrial genome (mtDNA) mutation causes highly variable clinical features, and its pathogenesis is not fully understood. In this study, we analyzed the…”
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Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia by Surampalli, Abhilasha, Khare, Manaswitha, Kubrussi, Georgette, Wencel, Marie, Tanaja, Jasmin, Donkervoort, Sandra, Osann, Kathryn, Simon, Mariella, Wallace, Douglas, Smith, Charles, M.McInerney-Leo, Aideen, Kimonis, Virginia

“…Inclusion Body Myopathy associated with Paget's disease of bone and Fronto-temporal Dementia, also known as multisystem proteinopathy is an autosomal dominant,…”
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