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Items: 1 to 20 of 58

1.
PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice
Ainhoa Martínez-Pizarro, Sara Picó, Arístides López-Márquez, Claudia Rodriguez-López, Elena Montalvo, Mar Alvarez, Margarita Castro, Santiago Ramón-Maiques, Belén Pérez, José J Lucas, Eva Richard, Lourdes R Desviat
Hum Mol Genet. 2024 Jun 15; 33(12): 1074–1089. Published online 2024 Mar 23. doi: 10.1093/hmg/ddae051
PMCID:
PMC11153335
AbstractArticlePDF–2.3M
2.
Genetic determinants of micronucleus formation in vivo
D. J. Adams, B. Barlas, R. E. McIntyre, I. Salguero, L. van der Weyden, A. Barros, J. R. Vicente, N. Karimpour, A. Haider, M. Ranzani, G. Turner, N. A. Thompson, V. Harle, R. Olvera-León, C. D. Robles-Espinoza, A. O. Speak, N. Geisler, W. J. Weninger, S. H. Geyer, J. Hewinson, N. A. Karp, The Sanger Mouse Genetics Project, B. Fu, F. Yang, Z. Kozik, J. Choudhary, L. Yu, M. S. van Ruiten, B. D. Rowland, C. J. Lelliott, M. del Castillo Velasco-Herrera, R. Verstraten, L. Bruckner, A. G. Henssen, M. A. Rooimans, J. de Lange, T. J. Mohun, M. J. Arends, K. A. Kentistou, P. A. Coelho, Y. Zhao, H. Zecchini, J. R. B. Perry, S. P. Jackson, G. Balmus
Nature. 2024; 627(8002): 130–136. Published online 2024 Feb 14. doi: 10.1038/s41586-023-07009-0
PMCID:
PMC10917660
AbstractArticlePDF–4.8M
3.
Efficient in vivo prime editing corrects the most frequent phenylketonuria variant, associated with high unmet medical need
Dominique L. Brooks, Madelynn N. Whittaker, Ping Qu, Kiran Musunuru, Rebecca C. Ahrens-Nicklas, Xiao Wang
Am J Hum Genet. 2023 Dec 7; 110(12): 2003–2014. Published online 2023 Nov 3. doi: 10.1016/j.ajhg.2023.10.005
PMCID:
PMC10716342
AbstractArticlePDF–3.0M
4.
Rapid and definitive treatment of phenylketonuria in variant-humanized mice with corrective editing
Dominique L. Brooks, Manuel J. Carrasco, Ping Qu, William H. Peranteau, Rebecca C. Ahrens-Nicklas, Kiran Musunuru, Mohamad-Gabriel Alameh, Xiao Wang
Nat Commun. 2023; 14: 3451. Published online 2023 Jun 10. doi: 10.1038/s41467-023-39246-2
PMCID:
PMC10257655
AbstractArticlePDF–2.0M
5.
Mesenchymal stem cell energy deficit and oxidative stress contribute to osteopenia in the Pahenu2 classical PKU mouse
Steven F. Dobrowolski, Cayla Sudano, Yu Leng Phua, Irina L. Tourkova, Kayla Spridik, Eric S. Goetzman, Jerry Vockley, Harry C. Blair
Mol Genet Metab. Author manuscript; available in PMC 2022 Dec 28.
Published in final edited form as: Mol Genet Metab. 2021 Mar; 132(3): 173–179. Published online 2021 Feb 11. doi: 10.1016/j.ymgme.2021.01.014
PMCID:
PMC9795491
AbstractArticlePDF–830K
6.
A noncoding RNA modulator potentiates phenylalanine metabolism in mice
Yajuan Li, Zhi Tan, Yaohua Zhang, Zhao Zhang, Qingsong Hu, Ke Liang, Jun Yao, Youqiong Ye, Yi-Chuan Li, Chunlai Li, Lan Liao, Jianming Xu, Zhen Xing, Yinghong Pan, Sujash S. Chatterjee, Tina K. Nguyen, Heidi Hsiao, Sergey D. Egranov, Nagireddy Putluri, Cristian Coarfa, David H. Hawke, Preethi H. Gunaratne, Kuang-Lei Tsai, Leng Han, Mien-Chie Hung, George A. Calin, Fares Namour, Jean-Louis Guéant, Ania C. Muntau, Nenad Blau, V. Reid Sutton, Manuel Schiff, François Feillet, Shuxing Zhang, Chunru Lin, Liuqing Yang
Science. Author manuscript; available in PMC 2022 Dec 1.
Published in final edited form as: Science. 2021 Aug 6; 373(6555): 662–673. doi: 10.1126/science.aba4991
PMCID:
PMC9714245
AbstractArticlePDF–2.0M
7.
DNA methylation in the pathophysiology of hyperphenylalaninemia in the PAHenu2 mouse model of phenylketonuria
S.F. Dobrowolski, J. Lyons-Weiler, K. Spridik, J. Vockley, K. Skvorak, A. Biery
Mol Genet Metab. Author manuscript; available in PMC 2022 Mar 28.
Published in final edited form as: Mol Genet Metab. 2016 Sep; 119(1-2): 1–7. Published online 2016 Jan 14. doi: 10.1016/j.ymgme.2016.01.001
PMCID:
PMC8958364
AbstractArticlePDF–346K
8.
Blood phenylalanine reduction reverses gene expression changes observed in a mouse model of phenylketonuria
Rachna Manek, Yao V. Zhang, Patricia Berthelette, Mahmud Hossain, Cathleen S. Cornell, Joseph Gans, Gulbenk Anarat-Cappillino, Sarah Geller, Robert Jackson, Dan Yu, Kuldeep Singh, Sue Ryan, Dinesh S. Bangari, Ethan Y. Xu, Sirkka R. M. Kyostio-Moore
Sci Rep. 2021; 11: 22886. Published online 2021 Nov 24. doi: 10.1038/s41598-021-02267-2
PMCID:
PMC8613214
AbstractArticlePDF–5.3M
9.
A novel Pah-exon1 deleted murine model of phenylalanine hydroxylase (PAH) deficiency
Daelyn Y. Richards, Shelley R. Winn, Sandra Dudley, Lev Fedorov, Nicole Rimann, Beat Thöny, Cary O. Harding
Mol Genet Metab. Author manuscript; available in PMC 2021 Jun 3.
Published in final edited form as: Mol Genet Metab. 2020 Nov; 131(3): 306–315. Published online 2020 Sep 30. doi: 10.1016/j.ymgme.2020.09.005
PMCID:
PMC8173763
AbstractArticlePDF–1.5M
10.
The Pah-R261Q mouse reveals oxidative stress associated with amyloid-like hepatic aggregation of mutant phenylalanine hydroxylase
Oscar Aubi, Karina S. Prestegård, Kunwar Jung-KC, Tie-Jun Sten Shi, Ming Ying, Ann Kari Grindheim, Tanja Scherer, Arve Ulvik, Adrian McCann, Endy Spriet, Beat Thöny, Aurora Martinez
Nat Commun. 2021; 12: 2073. Published online 2021 Apr 6. doi: 10.1038/s41467-021-22107-1
PMCID:
PMC8024259
AbstractArticlePDF–7.4M
11.
CRISPR/Cas9 generated knockout mice lacking phenylalanine hydroxylase protein as a novel preclinical model for human phenylketonuria
Kuldeep Singh, Cathleen S. Cornell, Robert Jackson, Mostafa Kabiri, Michael Phipps, Mitul Desai, Robert Fogle, Xiaoyou Ying, Gulbenk Anarat-Cappillino, Sarah Geller, Jennifer Johnson, Errin Roberts, Katie Malley, Tim Devlin, Matthew DeRiso, Patricia Berthelette, Yao V. Zhang, Susan Ryan, Srinivas Rao, Beth L. Thurberg, Dinesh S. Bangari, Sirkka Kyostio-Moore
Sci Rep. 2021; 11: 7254. Published online 2021 Mar 31. doi: 10.1038/s41598-021-86663-8
PMCID:
PMC8012645
AbstractArticlePDF–4.1M
12.
AAV-Mediated CRISPR/Cas9 Gene Editing in Murine Phenylketonuria
Daelyn Y. Richards, Shelley R. Winn, Sandra Dudley, Sean Nygaard, Taylor L. Mighell, Markus Grompe, Cary O. Harding
Mol Ther Methods Clin Dev. 2020 Jun 12; 17: 234–245. Published online 2019 Dec 24. doi: 10.1016/j.omtm.2019.12.004
PMCID:
PMC6962637
AbstractArticlePDF–1.5M
13.
Cognitive Deficits in a Genetic Mouse Model of the Most Common Biochemical Cause of Human Mental Retardation
Leze Zagreda, Jason Goodman, Donald P. Druin, David McDonald, Adele Diamond
J Neurosci. 1999 Jul 15; 19(14): 6175–6182. doi: 10.1523/JNEUROSCI.19-14-06175.1999
PMCID:
PMC6783085
AbstractArticlePDF–285K
14.
A Hierarchy of Hu RNA Binding Proteins in Developing and Adult Neurons
Hirotaka J. Okano, Robert B. Darnell
J Neurosci. 1997 May 1; 17(9): 3024–3037. doi: 10.1523/JNEUROSCI.17-09-03024.1997
PMCID:
PMC6573636
AbstractArticlePDF–1.5M
15.
A bone mineralization defect in the Pahenu2 model of classical phenylketonuria involves compromised mesenchymal stem cell differentiation
Steven F. Dobrowolski, Irina L. Tourkova, Lisa J. Robinson, Cassandra Secunda, Kayla Spridik, Harry C. Blair
Mol Genet Metab. Author manuscript; available in PMC 2019 Nov 1.
Published in final edited form as: Mol Genet Metab. 2018 Nov; 125(3): 193–199. Published online 2018 Aug 27. doi: 10.1016/j.ymgme.2018.08.010
PMCID:
PMC6542264
AbstractArticlePDF–623K
16.
Adaptive strategies of the candidate probiotic E. coli Nissle in the mammalian gut
Nathan Crook, Aura Ferreiro, Andrew J. Gasparrini, Mitchell W. Pesesky, Molly K. Gibson, Bin Wang, Xiaoqing Sun, Zevin Condiotte, Stephen Dobrowolski, Daniel Peterson, Gautam Dantas
Cell Host Microbe. Author manuscript; available in PMC 2020 Apr 10.
Published in final edited form as: Cell Host Microbe. 2019 Apr 10; 25(4): 499–512.e8. Published online 2019 Mar 26. doi: 10.1016/j.chom.2019.02.005
PMCID:
PMC6487504
AbstractArticlePDF–2.0M
17.
Long-term dietary intervention with low Phe and/or a specific nutrient combination improve certain aspects of brain functioning in phenylketonuria (PKU)
Vibeke M. Bruinenberg, Danique van Vliet, Els van der Goot, Danielle S. Counotte, Mirjam Kuhn, Francjan J. van Spronsen, Eddy A. van der Zee
PLoS One. 2019; 14(3): e0213391. Published online 2019 Mar 15. doi: 10.1371/journal.pone.0213391
PMCID:
PMC6420157
AbstractArticlePDF–2.6M
18.
Inhibiting neutral amino acid transport for the treatment of phenylketonuria
Adam M. Belanger, Malgorzata Przybylska, Estelle Gefteas, Matthew Furgerson, Sarah Geller, Alla Kloss, Seng H. Cheng, Yunxiang Zhu, Nelson S. Yew
JCI Insight. 2018 Jul 26; 3(14): e121762. Published online 2018 Jul 26. doi: 10.1172/jci.insight.121762
PMCID:
PMC6124451
AbstractArticlePDF–4.6M
19.
Targeting mGlu5 Metabotropic Glutamate Receptors in the Treatment of Cognitive Dysfunction in a Mouse Model of Phenylketonuria
Francesca Nardecchia, Rosamaria Orlando, Luisa Iacovelli, Marco Colamartino, Elena Fiori, Vincenzo Leuzzi, Sonia Piccinin, Robert Nistico, Stefano Puglisi-Allegra, Luisa Di Menna, Giuseppe Battaglia, Ferdinando Nicoletti, Tiziana Pascucci
Front Neurosci. 2018; 12: 154. Published online 2018 Mar 16. doi: 10.3389/fnins.2018.00154
PMCID:
PMC5864888
AbstractArticlePDF–1.6M
20.
Blood phenylalanine reduction corrects CNS dopamine and serotonin deficiencies and partially improves behavioral performance in adult phenylketonuric mice
Shelley R Winn, Tanja Scherer, Beat Thöny, Ming Ying, Aurora Martinez, Sydney Weber, Jacob Raber, Cary O Harding
Mol Genet Metab. Author manuscript; available in PMC 2019 Jan 1.
Published in final edited form as: Mol Genet Metab. 2018 Jan; 123(1): 6–20. Published online 2017 Oct 19. doi: 10.1016/j.ymgme.2017.10.009
PMCID:
PMC5786171
AbstractArticlePDF–1.5M

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