Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Patrick F. Finn"'
Autor:
Bijina Balakrishnan, Xinhua Yan, Marshall D. McCue, Olivia Bellagamba, Aaron Guo, Felicity Winkler, Jason Thall, Lisa Crawford, Rain Dimen, Sara Chen, Sean McEnaney, Yiman Wu, Mike Zimmer, Joe Sarkis, Paolo G.V. Martini, Patrick F. Finn, Kent Lai
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 32, Iss 1, Pp 101191- (2024)
Despite the implementation of lifesaving newborn screening programs and a galactose-restricted diet, many patients with classic galactosemia develop long-term debilitating neurological deficits and primary ovarian insufficiency. Previously, we showed
Externí odkaz:
https://doaj.org/article/d2fda7725fe9434a86e2d785a3e6d368
Autor:
Jingsong Cao, Minjung Choi, Eleonora Guadagnin, Maud Soty, Marine Silva, Vincent Verzieux, Edward Weisser, Arianna Markel, Jenny Zhuo, Shi Liang, Ling Yin, Andrea Frassetto, Anne-Renee Graham, Kristine Burke, Tatiana Ketova, Cosmin Mihai, Zach Zalinger, Becca Levy, Gilles Besin, Meredith Wolfrom, Barbara Tran, Christopher Tunkey, Erik Owen, Joe Sarkis, Athanasios Dousis, Vladimir Presnyak, Christopher Pepin, Wei Zheng, Lei Ci, Marjie Hard, Edward Miracco, Lisa Rice, Vi Nguyen, Mike Zimmer, Uma Rajarajacholan, Patrick F. Finn, Gilles Mithieux, Fabienne Rajas, Paolo G. V. Martini, Paloma H. Giangrande
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-14 (2021)
Glycogen Storage Disease 1a (Gsd1a) is an inherited disorder caused by glucose 6-phosphatase (G6Pase-α) deficiency and characterized by hypoglycaemia and high risk of liver cancer. Here the authors develop a mRNA-based G6Pase-α delivery therapy tha
Externí odkaz:
https://doaj.org/article/977236f43e9f4fb4a8b6a0322537f1cb
Autor:
Dany Perocheau, Sonam Gurung, Loukia Touramanidou, Claire Duff, Garima Sharma, Neil Sebire, Patrick F. Finn, Alex Cavedon, Summar Siddiqui, Lisa Rice, Paolo G.V. Martini, Andrea Frassetto, Julien Baruteau
In academic research and the pharmaceutical industry,in vitrosingle cell line cultures andin vivoanimal models are considered as gold standards in modelling diseases and assessing therapeutic efficacy. However, both models have limitations, with inco
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::788c3af6ae22dc0abf9e4d2bdc288e67
https://doi.org/10.1101/2023.03.23.533840
https://doi.org/10.1101/2023.03.23.533840
Autor:
Jingsong Cao, Arianna Markel, Erin Hanahoe, Tatiana Ketova, Cosmin Mihai, Zach Zalinger, David Marquardt, Nicholas J. Amato, Yi Min Cheng, David W. Reid, Athanasios Dousis, Paloma H. Giangrande, Joshua R. Schultz, Paolo G. V. Martini, Patrick F. Finn
Publikováno v:
Amino Acids.
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 homeostasis. Deficiency in G6Pase-α causes glycogen storage disease 1a (GSD1a), an inherite
Autor:
Sonam Gurung, Oskar V. Timmermand, Dany Perocheau, Ana Luisa Gil-Martinez, Magdalena Minnion, Loukia Touramanidou, Sherry Fang, Martina Messina, Youssef Khalil, Abigail R. Barber, Richard S. Edwards, Patrick F. Finn, Alex Cavedon, Summar Siddiqui, Lisa Rice, Paolo G.V. Martini, Philippa B. Mills, Simon N. Waddington, Paul Gissen, Simon Eaton, Mina Ryten, Martin Feelisch, Andrea Frassetto, Timothy H. Witney, Julien Baruteau
Argininosuccinate lyase (ASL) is a key enzyme integral to the hepatic urea cycle which is required for ammonia detoxification, and the citrulline-nitric oxide (NO) cycle for NO production. ASL deficient patients present with argininosuccinic aciduria
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8192b71655c57665732e2f7516f7ad84
https://doi.org/10.1101/2022.10.19.512931
https://doi.org/10.1101/2022.10.19.512931
Autor:
Guangyan, Wei, Jingsong, Cao, Pinzhu, Huang, Ping, An, Disha, Badlani, Kahini A, Vaid, Shuangshuang, Zhao, David Q-H, Wang, Jenny, Zhuo, Ling, Yin, Andrea, Frassetto, Arianna, Markel, Vladimir, Presnyak, Srujan, Gandham, Serenus, Hua, Christine, Lukacs, Patrick F, Finn, Paloma H, Giangrande, Paolo G V, Martini, Yury V, Popov
Publikováno v:
Journal of hepatology
Background & Aims: Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a rare lethal autosomal recessive liver disorder caused by loss-of-function variations of the ABCB4 gene, encoding a phosphatidylcholine transporter (ABCB4/MDR3). Curr
Publikováno v:
Autophagy. 1:141-145
Autophagy, including macroautophagy (MA), chaperone-mediated autophagy (CMA), crinophagy, pexophagy and microautophagy, are processes by which cells select internal components such as proteins, secretory vesicles, organelles, or foreign bodies, and d
Publikováno v:
Journal of the American Society of Nephrology : JASN. 17(9)
EGF suppresses proteolysis via class 1 phosphatidylinositol 3-kinase (PI3K) in renal tubular cells. EGF also increases the abundance of glycolytic enzymes (e.g., glyceraldehyde-3-phosphate dehydrogenase [GAPDH]) and transcription factors (e.g., pax2)
Autor:
J. Fred Dice, David L. Kaplan, Kyongbum Lee, Leah C. Abraham, Nicholas T. Mesires, Patrick F. Finn
Publikováno v:
Biomaterials. 28(2)
Tissue turnover during wound healing, regeneration or integration of biomedical materials depends on the rate and extent of materials trafficking into and out of cells involved in extracellular matrix (ECM) remodeling. To exploit these processes, we
Publisher Summary Chaperone-mediated autophagy (CMA) is a lysosomal pathway of proteolysis that degrades 30% of cytosolic proteins during nutritional deprivation. Substrates for this pathway of proteolysis have targeting sequences biochemically relat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9f806b69b03eaf09248a20746ed7c2e4
https://doi.org/10.1016/b978-012164730-8/50229-x
https://doi.org/10.1016/b978-012164730-8/50229-x