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Year | Number of Results |
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2018 | 1 |
2019 | 2 |
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Page 1
O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis.
Nat Commun. 2022 Sep 5;13(1):5212. doi: 10.1038/s41467-022-32904-x.
Nat Commun. 2022.
PMID: 36064721
Free PMC article.
CRISPR-Mediated Genomic Addition to CPS1 Deficient iPSCs is Insufficient to Restore Nitrogen Homeostasis.
Nitzahn M, Truong B, Khoja S, Vega-Crespo A, Le C, Eliav A, Makris G, Pyle AD, Häberle J, Lipshutz GS.
Nitzahn M, et al.
Yale J Biol Med. 2021 Dec 29;94(4):545-557. eCollection 2021 Dec.
Yale J Biol Med. 2021.
PMID: 34970092
Free PMC article.
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CPS1: Looking at an ancient enzyme in a modern light.
Nitzahn M, Lipshutz GS.
Nitzahn M, et al.
Mol Genet Metab. 2020 Nov;131(3):289-298. doi: 10.1016/j.ymgme.2020.10.003. Epub 2020 Oct 10.
Mol Genet Metab. 2020.
PMID: 33317798
Free PMC article.
Review.
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Split AAV-Mediated Gene Therapy Restores Ureagenesis in a Murine Model of Carbamoyl Phosphate Synthetase 1 Deficiency.
Nitzahn M, Allegri G, Khoja S, Truong B, Makris G, Häberle J, Lipshutz GS.
Nitzahn M, et al.
Mol Ther. 2020 Jul 8;28(7):1717-1730. doi: 10.1016/j.ymthe.2020.04.011. Epub 2020 Apr 17.
Mol Ther. 2020.
PMID: 32359471
Free PMC article.
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A constitutive knockout of murine carbamoyl phosphate synthetase 1 results in death with marked hyperglutaminemia and hyperammonemia.
Khoja S, Nitzahn M, Truong B, Lambert J, Willis B, Allegri G, Rüfenacht V, Häberle J, Lipshutz GS.
Khoja S, et al.
J Inherit Metab Dis. 2019 Nov;42(6):1044-1053. doi: 10.1002/jimd.12048. Epub 2019 Mar 5.
J Inherit Metab Dis. 2019.
PMID: 30835861
Free PMC article.
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Hepatic glutamine synthetase augmentation enhances ammonia detoxification.
Soria LR, Nitzahn M, De Angelis A, Khoja S, Attanasio S, Annunziata P, Palmer DJ, Ng P, Lipshutz GS, Brunetti-Pierri N.
Soria LR, et al.
J Inherit Metab Dis. 2019 Nov;42(6):1128-1135. doi: 10.1002/jimd.12070. Epub 2019 Mar 11.
J Inherit Metab Dis. 2019.
PMID: 30724386
Free PMC article.
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Conditional disruption of hepatic carbamoyl phosphate synthetase 1 in mice results in hyperammonemia without orotic aciduria and can be corrected by liver-directed gene therapy.
Khoja S, Nitzahn M, Hermann K, Truong B, Borzone R, Willis B, Rudd M, Palmer DJ, Ng P, Brunetti-Pierri N, Lipshutz GS.
Khoja S, et al.
Mol Genet Metab. 2018 Aug;124(4):243-253. doi: 10.1016/j.ymgme.2018.04.001. Epub 2018 Apr 12.
Mol Genet Metab. 2018.
PMID: 29801986
Free PMC article.
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