Caldovic L - Search Results

1

Clinical and structural insights into potential dominant negative triggers of proximal urea cycle disorders.

Makris G, Lauber M, Rüfenacht V, Gemperle C, Diez-Fernandez C, Caldovic L, Froese DS, Häberle J. Makris G, et al. Among authors: caldovic l. Biochimie. 2021 Apr;183:89-99. doi: 10.1016/j.biochi.2020.12.003. Epub 2020 Dec 9. Biochimie. 2021. PMID: 33309754 Free article. Clinical Trial.

2

Pkhd1^cyli/cyli mice have altered renal Pkhd1 mRNA processing and hormonally sensitive liver disease.

Yang C, Harafuji N, Caldovic L, Yu W, Boddu R, Bhattacharya S, Barseghyan H, Gordish-Dressman H, Foreman O, Bebok Z, Eicher EM, Guay-Woodford LM. Yang C, et al. Among authors: caldovic l. J Mol Med (Berl). 2023 Sep;101(9):1141-1151. doi: 10.1007/s00109-023-02351-2. Epub 2023 Aug 16. J Mol Med (Berl). 2023. PMID: 37584738 Free PMC article.

3

N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region.

Williams M, Burlina A, Rubert L, Polo G, Ruijter GJG, van den Born M, Rüfenacht V, Haskins N, van Zutven LJCM, Tuchman M, Saris JJ, Häberle J, Caldovic L. Williams M, et al. Among authors: caldovic l. Sci Rep. 2018 Oct 18;8(1):15436. doi: 10.1038/s41598-018-33457-0. Sci Rep. 2018. PMID: 30337552 Free PMC article.

4

Noncoding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene.

Häberle J, Moore MB, Haskins N, Rüfenacht V, Rokicki D, Rubio-Gozalbo E, Tuchman M, Longo N, Yandell M, Andrews A, AhMew N, Caldovic L. Häberle J, et al. Among authors: caldovic l. Hum Mutat. 2021 Dec;42(12):1624-1636. doi: 10.1002/humu.24281. Epub 2021 Sep 24. Hum Mutat. 2021. PMID: 34510628 Free PMC article.

5

Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles.

Caldovic L, Morizono H, Panglao MG, Lopez GY, Shi D, Summar ML, Tuchman M. Caldovic L, et al. Hum Mutat. 2005 Mar;25(3):293-8. doi: 10.1002/humu.20146. Hum Mutat. 2005. PMID: 15714518

6

N-acetylglutamate synthase: structure, function and defects.

Caldovic L, Ah Mew N, Shi D, Morizono H, Yudkoff M, Tuchman M. Caldovic L, et al. Mol Genet Metab. 2010;100 Suppl 1(Suppl 1):S13-9. doi: 10.1016/j.ymgme.2010.02.018. Epub 2010 Feb 26. Mol Genet Metab. 2010. PMID: 20303810 Free PMC article. Review.

7

Transcriptional regulation of N-acetylglutamate synthase.

Heibel SK, Lopez GY, Panglao M, Sodha S, Mariño-Ramírez L, Tuchman M, Caldovic L. Heibel SK, et al. Among authors: caldovic l. PLoS One. 2012;7(2):e29527. doi: 10.1371/journal.pone.0029527. Epub 2012 Feb 27. PLoS One. 2012. PMID: 22383952 Free PMC article.

8

A novel biochemically salvageable animal model of hyperammonemia devoid of N-acetylglutamate synthase.

Senkevitch E, Cabrera-Luque J, Morizono H, Caldovic L, Tuchman M. Senkevitch E, et al. Among authors: caldovic l. Mol Genet Metab. 2012 Jun;106(2):160-8. doi: 10.1016/j.ymgme.2012.03.004. Epub 2012 Mar 17. Mol Genet Metab. 2012. PMID: 22503289 Free PMC article.

9

Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.

Caldovic L, Abdikarim I, Narain S, Tuchman M, Morizono H. Caldovic L, et al. J Genet Genomics. 2015 May 20;42(5):181-94. doi: 10.1016/j.jgg.2015.04.003. Epub 2015 May 19. J Genet Genomics. 2015. PMID: 26059767 Free PMC article. Review.

10

Mitochondrial Enzymes of the Urea Cycle Cluster at the Inner Mitochondrial Membrane.

Haskins N, Bhuvanendran S, Anselmi C, Gams A, Kanholm T, Kocher KM, LoTempio J, Krohmaly KI, Sohai D, Stearrett N, Bonner E, Tuchman M, Morizono H, Jaiswal JK, Caldovic L. Haskins N, et al. Among authors: caldovic l. Front Physiol. 2021 Jan 21;11:542950. doi: 10.3389/fphys.2020.542950. eCollection 2020. Front Physiol. 2021. PMID: 33551825 Free PMC article.

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