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Select item 107163421.

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

Article PDF–3.0M

Select item 102576552.

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

Article PDF–2.0M

Select item 97954913.

Mesenchymal stem cell energy deficit and oxidative stress contribute to osteopenia in the Pah^enu2 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

Article PDF–830K

Select item 86132144.

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

Article PDF–5.3M

Select item 80242595.

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

Article PDF–7.4M

Select item 80126456.

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

Article PDF–4.1M

Select item 69626377.

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

Article PDF–1.5M

Select item 67830858.

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

Article PDF–285K

Select item 64875049.

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

Article PDF–2.0M

Select item 642015710.

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

Article PDF–2.6M

Select item 586488811.

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

Article PDF–1.6M

Select item 578617112.

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

Article PDF–1.5M

Select item 543513713.

Genetically engineered probiotic for the treatment of phenylketonuria (PKU); assessment of a novel treatment in vitro and in the PAH^enu2 mouse model of PKU

Katherine E. Durrer, Michael S. Allen, Ione Hunt von Herbing

PLoS One. 2017; 12(5): e0176286. Published online 2017 May 17. doi: 10.1371/journal.pone.0176286

PMCID:: PMC5435137

Article PDF–1.8M

Select item 540506714.

Sleep Disturbances in Phenylketonuria: An Explorative Study in Men and Mice

Vibeke M. Bruinenberg, Marijke C. M. Gordijn, Anita MacDonald, Francjan J. van Spronsen, Eddy A. Van der Zee

Front Neurol. 2017; 8: 167. Published online 2017 Apr 26. doi: 10.3389/fneur.2017.00167

PMCID:: PMC5405067

Article PDF–604K

Select item 534580715.

Formulation and PEGylation optimization of the therapeutic PEGylated phenylalanine ammonia lyase for the treatment of phenylketonuria

Sean M. Bell, Dan J. Wendt, Yanhong Zhang, Timothy W. Taylor, Shinong Long, Laurie Tsuruda, Bin Zhao, Phillip Laipis, Paul A. Fitzpatrick

PLoS One. 2017; 12(3): e0173269. Published online 2017 Mar 10. doi: 10.1371/journal.pone.0173269

PMCID:: PMC5345807

Article PDF–1.6M

Select item 516775516.

The Behavioral Consequence of Phenylketonuria in Mice Depends on the Genetic Background

Vibeke M. Bruinenberg, Els van der Goot, Danique van Vliet, Martijn J. de Groot, Priscila N. Mazzola, M. Rebecca Heiner-Fokkema, Martijn van Faassen, Francjan J. van Spronsen, Eddy A. van der Zee

Front Behav Neurosci. 2016; 10: 233. Published online 2016 Dec 20. doi: 10.3389/fnbeh.2016.00233

PMCID:: PMC5167755

Article PDF–1.8M

Select item 470646417.

High dose sapropterin dihydrochloride therapy improves monoamine neurotransmitter turnover in murine phenylketonuria (PKU)

Shelley R Winn, Tanya Scherer, Beat Thöny, Cary O Harding

Mol Genet Metab. Author manuscript; available in PMC 2017 Jan 1.

Published in final edited form as: Mol Genet Metab. 2016 Jan; 117(1): 5–11. Published online 2015 Nov 26. doi: 10.1016/j.ymgme.2015.11.012

PMCID:: PMC4706464

Article PDF–697K

Select item 459382018.

Glycomacropeptide is a prebiotic that reduces Desulfovibrio bacteria, increases cecal short-chain fatty acids, and is anti-inflammatory in mice

Emily A. Sawin, Travis J. De Wolfe, Busra Aktas, Bridget M. Stroup, Sangita G. Murali, James L. Steele, Denise M. Ney

Am J Physiol Gastrointest Liver Physiol. 2015 Oct 1; 309(7): G590–G601. Published online 2015 Aug 6. doi: 10.1152/ajpgi.00211.2015

PMCID:: PMC4593820

Article

Select item 399502519.

Differential Effects of Low-Phenylalanine Protein Sources on Brain Neurotransmitters and Behavior in C57Bl/6-Pah^enu2 Mice

Emily A. Sawin, Sangita G. Murali, Denise M. Ney

Mol Genet Metab. Author manuscript; available in PMC 2015 Apr 1.

Published in final edited form as: Mol Genet Metab. 2014 Apr; 111(4): 452–461. Published online 2014 Feb 8. doi: 10.1016/j.ymgme.2014.01.015

PMCID:: PMC3995025

Article PDF–702K

Select item 386993020.

Behavioral and Neurochemical Characterization of New Mouse Model of Hyperphenylalaninemia

Tiziana Pascucci, Giacomo Giacovazzo, Diego Andolina, Alessandra Accoto, Elena Fiori, Rossella Ventura, Cristina Orsini, David Conversi, Claudia Carducci, Vincenzo Leuzzi, Stefano Puglisi-Allegra

PLoS One. 2013; 8(12): e84697. Published online 2013 Dec 20. doi: 10.1371/journal.pone.0084697

PMCID:: PMC3869930

Article PDF–1.1M

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