Risultati della ricerca - Neal Sondheimer

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  1. 1
    Rnq1

    Rnq1 di Neal Sondheimer, Susan Lindquist

    Pubblicazione 2000
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  2. 2
    Transcriptional requirements of the distal heavy-strand promoter of mtDNA

    Transcriptional requirements of the distal heavy-strand promoter of mtDNA di Ornella Zollo, Valeria Tiranti, Neal Sondheimer

    Pubblicazione 2012
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  3. 3
    Changes in the middle region of Sup35 profoundly alter the nature of epigenetic inheritance for the yeast prion [ <i>PSI</i> <sup>+</sup> ]

    Changes in the middle region of Sup35 profoundly alter the nature of epigenetic inheritance for the yeast prion [ <i>PSI</i> <sup>+</sup> ] di Jiajia Liu, Neal Sondheimer, Susan Lindquist

    Pubblicazione 2002
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  4. 4
    The role of Sis1 in the maintenance of the [RNQ+] prion

    The role of Sis1 in the maintenance of the [RNQ+] prion di Neal Sondheimer, Nelson Lopez, Elizabeth A. Craig, Susan Lindquist

    Pubblicazione 2001
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  5. 5
    High-dose continuous renal replacement therapy for neonatal hyperammonemia

    High-dose continuous renal replacement therapy for neonatal hyperammonemia di Joann M. Spinale, Benjamin L. Laskin, Neal Sondheimer, Sarah J. Swartz, Stuart L. Goldstein

    Pubblicazione 2013
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  6. 6
    Neutral mitochondrial heteroplasmy and the influence of aging

    Neutral mitochondrial heteroplasmy and the influence of aging di Neal Sondheimer, Catherine Glatz, Jack E. Tirone, Matthew A. Deardorff, Abba Μ. Krieger, Hákon Hákonarson

    Pubblicazione 2011
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  7. 7
    Predicting the pathogenicity of novel variants in mitochondrial tRNA with MitoTIP

    Predicting the pathogenicity of novel variants in mitochondrial tRNA with MitoTIP di Sanjay Sonney, Jeremy Leipzig, Marie T. Lott, Shiping Zhang, Vincent Procaccio, Douglas C. Wallace, Neal Sondheimer

    Pubblicazione 2017
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  8. 8
    Polyglutamine aggregates alter protein folding homeostasis in <i>Caenorhabditis elegans</i>

    Polyglutamine aggregates alter protein folding homeostasis in <i>Caenorhabditis elegans</i> di Sanjeev Satyal, Enrico Schmidt, Kazunori Kitagawa, Neal Sondheimer, Susan Lindquist, James M. Kramer, Richard I. Morimoto

    Pubblicazione 2000
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  9. 9
    The mitochondrial phosphate carrier: Role in oxidative metabolism, calcium handling and mitochondrial disease

    The mitochondrial phosphate carrier: Role in oxidative metabolism, calcium handling and mitochondrial disease di Erin L. Seifert, Erzsébet Ligeti, Johannes A. Mayr, Neal Sondheimer, Gyӧrgy Hajnόczky

    Pubblicazione 2015
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  10. 10
    Mitochondrial respiratory chain disease discrimination by retrospective cohort analysis of blood metabolites

    Mitochondrial respiratory chain disease discrimination by retrospective cohort analysis of blood metabolites di Colleen Clarke, Rui Xiao, Emily Place, Zhe Zhang, Neal Sondheimer, Malcolm J. Bennett, Marc Yudkoff, Marni J. Falk

    Pubblicazione 2013
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  11. 11
    Red Blood Cells Homeostatically Bind Mitochondrial DNA through TLR9 to Maintain Quiescence and to Prevent Lung Injury

    Red Blood Cells Homeostatically Bind Mitochondrial DNA through TLR9 to Maintain Quiescence and to Prevent Lung Injury di Meghan J. Hotz, Danielle Qing, M.G.S. Shashaty, Peggy Zhang, H Faust, Neal Sondheimer, Stefano Rivella, G. Scott Worthen, Nilam S. Mangalmurti

    Pubblicazione 2017
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  12. 12
    Interim analyses of a first-in-human phase 1/2 mRNA trial for propionic acidaemia

    Interim analyses of a first-in-human phase 1/2 mRNA trial for propionic acidaemia di Dwight D. Koeberl, Andreas Schulze, Neal Sondheimer, Gerald S. Lipshutz, Tarekegn Geberhiwot, Lerong Li, Rajnish Saini, Junxiang Luo, Vanja Sikirica, Ling Jin, M. Liang, Mary Leuchars, Stephanie Grünewald

    Pubblicazione 2024
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  13. 13
    Precision therapy for a new disorder of AMPA receptor recycling due to mutations in <i>ATAD1</i>

    Precision therapy for a new disorder of AMPA receptor recycling due to mutations in <i>ATAD1</i> di Rebecca C. Ahrens‐Nicklas, George K. E. Umanah, Neal Sondheimer, Matthew A. Deardorff, Alisha Wilkens, Laura K. Conlin, Avni Santani, Addie I. Nesbitt, Jane Juulsola, Erica Ma, Ted M. Dawson, Valina L. Dawson, Eric D. Marsh

    Pubblicazione 2017
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  14. 14
    Modeling kinetic rate variation in third generation DNA sequencing data to detect putative modifications to DNA bases

    Modeling kinetic rate variation in third generation DNA sequencing data to detect putative modifications to DNA bases di Eric E. Schadt, Onureena Banerjee, Gang Fang, Zhixing Feng, Wing Hung Wong, Xuegong Zhang, Andrey Kislyuk, Tyson A. Clark, Khai Luong, Alona Keren‐Paz, Andrew Chess, Vipin Kumar, Alice Chen‐Plotkin, Neal Sondheimer, Jonas Korlach, Andrew Kasarskis

    Pubblicazione 2012
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  15. 15
    Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing

    Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing di Gregory Costain, Rebekah Jobling, Susan Walker, Miriam S. Reuter, Meaghan Snell, Sarah Bowdin, Ronald D. Cohn, Lucie Dupuis, Stacy Hewson, Saadet Mercimek‐Andrews, Cheryl Shuman, Neal Sondheimer, Rosanna Weksberg, Grace Yoon, M. Stephen Meyn, Dimitri J. Stavropoulos, Stephen W. Scherer, Roberto Mendoza‐Londono, Christian R. Marshall

    Pubblicazione 2018
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  16. 16
    The live biotherapeutic SYNB1353 decreases plasma methionine via directed degradation in animal models and healthy volunteers

    The live biotherapeutic SYNB1353 decreases plasma methionine via directed degradation in animal models and healthy volunteers di Mylène Perreault, Jillian Means, Erik Gerson, Michael J. James, Sean L. Cotton, Christopher G Bergeron, Mark D. Simon, Dylan Alexander Carlin, Nathan W. Schmidt, Theodore C. Moore, Julie Blasbalg, Neal Sondheimer, Kenneth Ndugga-Kabuye, William S. Denney, Vincent M. Isabella, David Lubkowicz, Aoife M. Brennan, David L. Hava

    Pubblicazione 2024
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  17. 17
    G-quadruplex dynamics contribute to regulation of mitochondrial gene expression

    G-quadruplex dynamics contribute to regulation of mitochondrial gene expression di Micol Falabella, Jill E. Kolesar, Callen T. Wallace, Daniel Simões de Jesus, Linqing Sun, Yumiko Taguchi, C. Wang, Ting Wang, Irene M. Xiang, Jonathan K. Alder, Rathena Maheshan, William Horne, Joshua Turek-Herman, Patrick J. Pagano, C.M. St. Croix, Neal Sondheimer, Liliya A. Yatsunyk, F. Brad Johnson, Brett A. Kaufman

    Pubblicazione 2019
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  18. 18
    Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation

    Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation di Elizabeth M. McCormick, Marie T. Lott, Matthew C. Dulik, Li Shen, Marcella Attimonelli, Ornella Vitale, Amel Karaa, Renkui Bai, Daniel Pineda‐Alvarez, Larry N. Singh, Christine M. Stanley, Stacey Wong, Anshu Bhardwaj, Daria Merkurjev, Rong Mao, Neal Sondheimer, Shiping Zhang, Vincent Procaccio, Douglas C. Wallace, Xiaowu Gai, Marni J. Falk

    Pubblicazione 2020
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  19. 19
    Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy

    Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy di Mirna Assoum, Christophe Philippe, Bertrand Isidor, Laurence Perrin, Periklis Makrythanasis, Neal Sondheimer, C. Paris, Jessica Douglas, Gaëtan Lesca, Stylianos E. Antonarakis, Hanan Hamamy, Thibaud Jouan, Yannis Duffourd, Stéphane Auvin, Aline Saunier, Amber Begtrup, C. Nowak, Nicolas Chatron, Dorothée Ville, Kamiar Mireskandari, Paolo Milani, Philippe Jonveaux, Guylène Lemeur, Mathieu Milh, Masano Amamoto, Mitsuhiro Kato, Mitsuko Nakashima, Noriko Miyake, Naomichi Matsumoto, Amira Masri, Christel Thauvin‐Robinet, Jean‐Baptiste Rivière, Laurence Faivre, Julien Thévenon

    Pubblicazione 2016
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  20. 20
    Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy

    Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy di Xiaowu Gai, Daniele Ghezzi, Mark Johnson, Caroline Biagosch, Hanan E. Shamseldin, Tobias B. Haack, Aurelio Reyes, Mai Tsukikawa, Claire A. Sheldon, Satish Srinivasan, Matteo Gorza, Laura S. Kremer, Thomas Wieland, Tim M. Strom, Erzsébet Polyák, Emily Place, Mark Consugar, Julian Ostrovsky, Sara Vidoni, Alan J. Robinson, Lee-Jun Wong, Neal Sondheimer, Mustafa A. Salih, Emtethal Al-Jishi, Christopher P. Raab, Charles Bean, Francesca Furlan, Rossella Parini, Costanza Lamperti, Johannes A. Mayr, Vassiliki Konstantopoulou, Martina Huemer, Eric A. Pierce, Thomas Meitinger, Peter Freisinger, Wolfgang Sperl, Holger Prokisch, Fowzan S. Alkuraya, Marni J. Falk, Massimo Zeviani

    Pubblicazione 2013
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