PubMed for id: 18478

Year	Number of Results
1980	1
1984	1
1986	1
1988	2
1989	1
1990	7
1991	2
1992	7
1993	3
1994	6
1995	3
1996	3
1997	2
1998	2
1999	3
2000	9
2001	3
2002	4
2003	2
2004	4
2005	8
2006	2
2007	1
2008	3
2009	2
2010	3
2011	5
2012	3
2013	2
2014	3
2015	3
2016	4
2017	6
2018	6
2019	3
2020	2
2021	6
2023	2
2024	0

1

Efficient in vivo prime editing corrects the most frequent phenylketonuria variant, associated with high unmet medical need.

Brooks DL, Whittaker MN, Qu P, Musunuru K, Ahrens-Nicklas RC, Wang X. Brooks DL, et al. Am J Hum Genet. 2023 Dec 7;110(12):2003-2014. doi: 10.1016/j.ajhg.2023.10.005. Epub 2023 Nov 3. Am J Hum Genet. 2023. PMID: 37924808 Free PMC article.

2

Rapid and definitive treatment of phenylketonuria in variant-humanized mice with corrective editing.

Brooks DL, Carrasco MJ, Qu P, Peranteau WH, Ahrens-Nicklas RC, Musunuru K, Alameh MG, Wang X. Brooks DL, et al. Nat Commun. 2023 Jun 10;14(1):3451. doi: 10.1038/s41467-023-39246-2. Nat Commun. 2023. PMID: 37301931 Free PMC article.

3

Blood phenylalanine reduction reverses gene expression changes observed in a mouse model of phenylketonuria.

Manek R, Zhang YV, Berthelette P, Hossain M, Cornell CS, Gans J, Anarat-Cappillino G, Geller S, Jackson R, Yu D, Singh K, Ryan S, Bangari DS, Xu EY, Kyostio-Moore SRM. Manek R, et al. Sci Rep. 2021 Nov 24;11(1):22886. doi: 10.1038/s41598-021-02267-2. Sci Rep. 2021. PMID: 34819582 Free PMC article.

4

The Pah-R261Q mouse reveals oxidative stress associated with amyloid-like hepatic aggregation of mutant phenylalanine hydroxylase.

Aubi O, Prestegård KS, Jung-Kc K, Shi TS, Ying M, Grindheim AK, Scherer T, Ulvik A, McCann A, Spriet E, Thöny B, Martinez A. Aubi O, et al. Nat Commun. 2021 Apr 6;12(1):2073. doi: 10.1038/s41467-021-22107-1. Nat Commun. 2021. PMID: 33824313 Free PMC article.

5

CRISPR/Cas9 generated knockout mice lacking phenylalanine hydroxylase protein as a novel preclinical model for human phenylketonuria.

Singh K, Cornell CS, Jackson R, Kabiri M, Phipps M, Desai M, Fogle R, Ying X, Anarat-Cappillino G, Geller S, Johnson J, Roberts E, Malley K, Devlin T, DeRiso M, Berthelette P, Zhang YV, Ryan S, Rao S, Thurberg BL, Bangari DS, Kyostio-Moore S. Singh K, et al. Sci Rep. 2021 Mar 31;11(1):7254. doi: 10.1038/s41598-021-86663-8. Sci Rep. 2021. PMID: 33790381 Free PMC article.

6

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

Dobrowolski SF, Sudano C, Phua YL, Tourkova IL, Spridik K, Goetzman ES, Vockley J, Blair HC. Dobrowolski SF, et al. Mol Genet Metab. 2021 Mar;132(3):173-179. doi: 10.1016/j.ymgme.2021.01.014. Epub 2021 Feb 11. Mol Genet Metab. 2021. PMID: 33602601 Free PMC article.

7

AAV-Mediated CRISPR/Cas9 Gene Editing in Murine Phenylketonuria.

Richards DY, Winn SR, Dudley S, Nygaard S, Mighell TL, Grompe M, Harding CO. Richards DY, et al. Mol Ther Methods Clin Dev. 2019 Dec 24;17:234-245. doi: 10.1016/j.omtm.2019.12.004. eCollection 2020 Jun 12. Mol Ther Methods Clin Dev. 2019. PMID: 31970201 Free PMC article.

8

Adaptive Strategies of the Candidate Probiotic E. coli Nissle in the Mammalian Gut.

Crook N, Ferreiro A, Gasparrini AJ, Pesesky MW, Gibson MK, Wang B, Sun X, Condiotte Z, Dobrowolski S, Peterson D, Dantas G. Crook N, et al. Cell Host Microbe. 2019 Apr 10;25(4):499-512.e8. doi: 10.1016/j.chom.2019.02.005. Epub 2019 Mar 26. Cell Host Microbe. 2019. PMID: 30926240 Free PMC article.

9

Long-term dietary intervention with low Phe and/or a specific nutrient combination improve certain aspects of brain functioning in phenylketonuria (PKU).

Bruinenberg VM, van Vliet D, van der Goot E, Counotte DS, Kuhn M, van Spronsen FJ, van der Zee EA. Bruinenberg VM, et al. PLoS One. 2019 Mar 15;14(3):e0213391. doi: 10.1371/journal.pone.0213391. eCollection 2019. PLoS One. 2019. PMID: 30875376 Free PMC article.

10

Treatment of a metabolic liver disease by in vivo genome base editing in adult mice.

Villiger L, Grisch-Chan HM, Lindsay H, Ringnalda F, Pogliano CB, Allegri G, Fingerhut R, Häberle J, Matos J, Robinson MD, Thöny B, Schwank G. Villiger L, et al. Nat Med. 2018 Oct;24(10):1519-1525. doi: 10.1038/s41591-018-0209-1. Epub 2018 Oct 8. Nat Med. 2018. PMID: 30297904 Free article.

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