Search Results - "Finn, Patrick"

An estimate of the ultralow waste heat available in the European Union by Luberti, Mauro, Gowans, Robert, Finn, Patrick, Santori, Giulio

“…A large amount of low grade heat is wasted at temperatures below 100 °C but its quantity remains mostly unknown. Therefore, the identification and quantitation…”
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Systemic mRNA Therapy for the Treatment of Fabry Disease: Preclinical Studies in Wild-Type Mice, Fabry Mouse Model, and Wild-Type Non-human Primates by Zhu, Xuling, Yin, Ling, Theisen, Matt, Zhuo, Jenny, Siddiqui, Summar, Levy, Becca, Presnyak, Vladimir, Frassetto, Andrea, Milton, Jaclyn, Salerno, Timothy, Benenato, Kerry E., Milano, Joe, Lynn, Andy, Sabnis, Staci, Burke, Kristine, Besin, Gilles, Lukacs, Christine M., Guey, Lin T., Finn, Patrick F., Martini, Paolo G.V.

“…Fabry disease is an X-linked lysosomal storage disease caused by loss of alpha galactosidase A (α-Gal A) activity and is characterized by progressive…”
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Evaluation of a bioaerosol sampler for indoor environmental surveillance of Severe Acute Respiratory Syndrome Coronavirus 2 by Horve, Patrick Finn, Dietz, Leslie, Northcutt, Dale, Stenson, Jason, Van Den Wymelenberg, Kevin

“…The worldwide spread of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) has ubiquitously impacted many aspects of life. As vaccines continue to be…”
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mRNA therapy restores euglycemia and prevents liver tumors in murine model of glycogen storage disease by Cao, Jingsong, Choi, Minjung, Guadagnin, Eleonora, Soty, Maud, Silva, Marine, Verzieux, Vincent, Weisser, Edward, Markel, Arianna, Zhuo, Jenny, Liang, Shi, Yin, Ling, Frassetto, Andrea, Graham, Anne-Renee, Burke, Kristine, Ketova, Tatiana, Mihai, Cosmin, Zalinger, Zach, Levy, Becca, Besin, Gilles, Wolfrom, Meredith, Tran, Barbara, Tunkey, Christopher, Owen, Erik, Sarkis, Joe, Dousis, Athanasios, Presnyak, Vladimir, Pepin, Christopher, Zheng, Wei, Ci, Lei, Hard, Marjie, Miracco, Edward, Rice, Lisa, Nguyen, Vi, Zimmer, Mike, Rajarajacholan, Uma, Finn, Patrick F., Mithieux, Gilles, Rajas, Fabienne, Martini, Paolo G. V., Giangrande, Paloma H.

“…Glycogen Storage Disease 1a (GSD1a) is a rare, inherited metabolic disorder caused by deficiency of glucose 6-phosphatase (G6Pase-α). G6Pase-α is critical for…”
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Synthetic human ABCB4 mRNA therapy rescues severe liver disease phenotype in a BALB/c.Abcb4-/- mouse model of PFIC3 by Wei, Guangyan, Cao, Jingsong, Huang, Pinzhu, An, Ping, Badlani, Disha, Vaid, Kahini A., Zhao, Shuangshuang, Wang, David Q-H., Zhuo, Jenny, Yin, Ling, Frassetto, Andrea, Markel, Arianna, Presnyak, Vladimir, Gandham, Srujan, Hua, Serenus, Lukacs, Christine, Finn, Patrick F., Giangrande, Paloma H., Martini, Paolo G.V., Popov, Yury V.

“…Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a rare lethal autosomal recessive liver disorder caused by loss-of-function variations of the…”
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Proteolytic and lipolytic responses to starvation by Finn, Patrick F., Dice, J. Fred

“…Mammals survive starvation by activating proteolysis and lipolysis in many different tissues. These responses are triggered, at least in part, by changing…”
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Development of a measure for assessing malingered incompetency in criminal proceedings: Denney competency related test (D-CRT) by Denney, Robert L., Thinda, Sundeep, Finn, Patrick M., Fazio, Rachel L., Chen, Michelle J., Walsh, Michael R.

“…Experts frequently assess competency in criminal settings where the rate of feigning cognitive deficit is demonstrably elevated. We describe the construction…”
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mRNA Therapy Improves Metabolic and Behavioral Abnormalities in a Murine Model of Citrin Deficiency by Cao, Jingsong, An, Ding, Galduroz, Mikel, Zhuo, Jenny, Liang, Shi, Eybye, Marianne, Frassetto, Andrea, Kuroda, Eishi, Funahashi, Aki, Santana, Jordan, Mihai, Cosmin, Benenato, Kerry E., Kumarasinghe, E. Sathyajith, Sabnis, Staci, Salerno, Timothy, Coughlan, Kimberly, Miracco, Edward J., Levy, Becca, Besin, Gilles, Schultz, Joshua, Lukacs, Christine, Guey, Lin, Finn, Patrick, Furukawa, Tatsuhiko, Giangrande, Paloma H., Saheki, Takeyori, Martini, Paolo G.V.

“…Citrin deficiency is an autosomal recessive disorder caused by loss-of-function mutations in SLC25A13, encoding the liver-specific mitochondrial…”
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Characterizing the mechanism of action for mRNA therapeutics for the treatment of propionic acidemia, methylmalonic acidemia, and phenylketonuria by Baek, Rena, Coughlan, Kimberly, Jiang, Lei, Liang, Min, Ci, Lei, Singh, Harkewal, Zhang, Hannah, Kaushal, Neeraj, Rajlic, Ivana Liric, Van, Linh, Dimen, Rain, Cavedon, Alexander, Yin, Ling, Rice, Lisa, Frassetto, Andrea, Guey, Lin, Finn, Patrick, Martini, Paolo G. V.

“…Messenger RNA (mRNA) therapeutics delivered via lipid nanoparticles hold the potential to treat metabolic diseases caused by protein deficiency, including…”
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mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria by Gurung, Sonam, Timmermand, Oskar Vilhelmsson, Perocheau, Dany, Gil-Martinez, Ana Luisa, Minnion, Magdalena, Touramanidou, Loukia, Fang, Sherry, Messina, Martina, Khalil, Youssef, Spiewak, Justyna, Barber, Abigail R, Edwards, Richard S, Pinto, Patricia Lipari, Finn, Patrick F, Cavedon, Alex, Siddiqui, Summar, Rice, Lisa, Martini, Paolo G V, Ridout, Deborah, Heywood, Wendy, Hargreaves, Ian, Heales, Simon, Mills, Philippa B, Waddington, Simon N, Gissen, Paul, Eaton, Simon, Ryten, Mina, Feelisch, Martin, Frassetto, Andrea, Witney, Timothy H, Baruteau, Julien

“…The urea cycle enzyme argininosuccinate lyase (ASL) enables the clearance of neurotoxic ammonia and the biosynthesis of arginine. Patients with ASL deficiency…”
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GLA-modified RNA treatment lowers GB3 levels in iPSC-derived cardiomyocytes from Fabry-affected individuals by ter Huurne, Menno, Parker, Benjamin L., Liu, Ning Qing, Qian, Elizabeth Ling, Vivien, Celine, Karavendzas, Kathy, Mills, Richard J., Saville, Jennifer T., Abu-Bonsrah, Dad, Wise, Andrea F., Hudson, James E., Talbot, Andrew S., Finn, Patrick F., Martini, Paolo G.V., Fuller, Maria, Ricardo, Sharon D., Watt, Kevin I., Nicholls, Kathy M., Porrello, Enzo R., Elliott, David A.

“…Recent studies in non-human model systems have shown therapeutic potential of nucleoside-modified messenger RNA (modRNA) treatments for lysosomal storage…”
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Amnio acid substitution at position 298 of human glucose-6 phosphatase-α significantly impacts its stability in mammalian cells by Cao, Jingsong, Markel, Arianna, Hanahoe, Erin, Ketova, Tatiana, Mihai, Cosmin, Zalinger, Zach, Marquardt, David, Amato, Nicholas J., Cheng, Yi Min, Reid, David W., Dousis, Athanasios, Giangrande, Paloma H., Schultz, Joshua R., Martini, Paolo G. V., Finn, Patrick F.

“…Glucose-6-phosphatase-α (G6Pase-α) catalyzes the hydrolysis of glucose-6-phosphate to glucose and functions as a key regulator in maintaining blood glucose…”
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Effects of Small Molecules on Chaperone-Mediated Autophagy by Finn, Patrick F., Mesires, Nicholas T., Vine, Michaela, Dice, J. Fred

“…Autophagy, including macroautophagy (MA), chaperone-mediated autophagy (CMA), crinophagy, pexophagy and microautophagy, are processes by which cells select…”
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Ketone Bodies Stimulate Chaperone-mediated Autophagy by Finn, Patrick F, Dice, J Fred

“…Chaperone-mediated autophagy (CMA) is a selective lysosomal protein degradative process that is activated in higher organisms under conditions of prolonged…”
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Ex vivo precision-cut liver slices model disease phenotype and monitor therapeutic response for liver monogenic diseases [version 2; peer review: 1 approved, 1 approved with reservations] by Perocheau, Dany, Gurung, Sonam, Touramanidou, Loukia, Duff, Claire, Sharma, Garima, Sebire, Neil, Finn, Patrick F, Cavedon, Alex, Siddiqui, Summar, Rice, Lisa, Martini, Paolo G.V., Frassetto, Andrea, Baruteau, Julien

“…Background In academic research and the pharmaceutical industry, in vitro cell lines and in vivo animal models are considered as gold standards in modelling…”
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The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria by Gurung, Sonam, Karamched, Saketh, Perocheau, Dany, Seunarine, Kiran K., Baldwin, Tom, Alrashidi, Haya, Touramanidou, Loukia, Duff, Claire, Elkhateeb, Nour, Stepien, Karolina M., Sharma, Reena, Morris, Andrew, Hartley, Thomas, Crowther, Laura, Grunewald, Stephanie, Cleary, Maureen, Mundy, Helen, Chakrapani, Anupam, Batzios, Spyros, Davison, James, Footitt, Emma, Tuschl, Karin, Lachmann, Robin, Murphy, Elaine, Santra, Saikat, Uudelepp, Mari‐Liis, Yeo, Mildrid, Finn, Patrick F., Cavedon, Alex, Siddiqui, Summar, Rice, Lisa, Martini, Paolo G. V., Frassetto, Andrea, Heales, Simon, Mills, Philippa B., Gissen, Paul, Clayden, Jonathan D., Clark, Christopher A., Eaton, Simon, Kalber, Tammy L., Baruteau, Julien

“…Abstract Argininosuccinate lyase (ASL) is integral to the urea cycle detoxifying neurotoxic ammonia and the nitric oxide (NO) biosynthesis cycle. Inherited ASL…”
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Whole-body galactose oxidation as a robust functional assay to assess the efficacy of gene-based therapies in a mouse model of Galactosemia by Balakrishnan, Bijina, Yan, Xinhua, McCue, Marshall D., Bellagamba, Olivia, Guo, Aaron, Winkler, Felicity, Thall, Jason, Crawford, Lisa, Dimen, Rain, Chen, Sara, McEnaney, Sean, Wu, Yiman, Zimmer, Mike, Sarkis, Joe, Martini, Paolo G.V., Finn, Patrick F., Lai, Kent

“…Despite the implementation of lifesaving newborn screening programs and a galactose-restricted diet, many patients with classic galactosemia develop long-term…”
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Preparing for Power in Elite Boarding Schools and in Working-Class Schools by Finn, Patrick J.

“…Elite boarding schools endeavor to instill in their students elite-class solidarity, strong beliefs in both meritocracy and the essential rightness of the…”
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Differing effects of four building materials on viable bacterial communities and VOCs by Mhuireach, Gwynne Á., Dietz, Leslie, Griffiths, Willem, Horve, Patrick Finn, Laguerre, Aurélie, Northcutt, Dale, Vandegrift, Roo, Gall, Elliott, Van Den Wymelenberg, Kevin

“…Indoor environmental quality is a paramount concern among architects. Exposure to VOCs and microorganisms impacts occupant health, yet the role of materials on…”
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Glycan Structure Determinants for Cation-Independent Mannose 6‑Phosphate Receptor Binding and Cellular Uptake of a Recombinant Protein by Zhou, Qun, Avila, Luis Z, Konowicz, Paul A, Harrahy, John, Finn, Patrick, Kim, Jennifer, Reardon, Michael R, Kyazike, Josephine, Brunyak, Elizabeth, Zheng, Xiaoyang, Patten, Scott M. Van, Miller, Robert J, Pan, Clark Q

“…The cation-independent mannose 6-phosphate receptor (CI-MPR) plays a critical role in intracellular transport of lysosomal enzymes as well as the uptake of…”
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