D'Avanzo F - Search Results

1

A novel CRISPR/Cas9-based iduronate-2-sulfatase (IDS) knockout human neuronal cell line reveals earliest pathological changes.

Badenetti L, Manzoli R, Trevisan M, D'Avanzo F, Tomanin R, Moro E. Badenetti L, et al. Among authors: d avanzo f. Sci Rep. 2023 Jun 25;13(1):10289. doi: 10.1038/s41598-023-37138-5. Sci Rep. 2023. PMID: 37357221 Free PMC article.

2

Generation of an induced pluripotent stem cells line, CSSi014-A 9407, carrying the variant c.479C>T in the human iduronate 2-sulfatase (hIDS) gene.

Casamassa A, Zanetti A, Ferrari D, Lombardi I, Galluzzi G, D'Avanzo F, Cipressa G, Bertozzi A, Torrente I, Vescovi AL, Tomanin R, Rosati J. Casamassa A, et al. Among authors: d avanzo f. Stem Cell Res. 2022 Aug;63:102846. doi: 10.1016/j.scr.2022.102846. Epub 2022 Jun 21. Stem Cell Res. 2022. PMID: 35759972 Free article.

3

Circadian transcriptome analysis in human fibroblasts from Hunter syndrome and impact of iduronate-2-sulfatase treatment.

Mazzoccoli G, Tomanin R, Mazza T, D'Avanzo F, Salvalaio M, Rigon L, Zanetti A, Pazienza V, Francavilla M, Giuliani F, Vinciguerra M, Scarpa M. Mazzoccoli G, et al. BMC Med Genomics. 2013 Oct 2;6:37. doi: 10.1186/1755-8794-6-37. BMC Med Genomics. 2013. PMID: 24083598 Free PMC article.

4

Targeting Brain Disease in MPSII: Preclinical Evaluation of IDS-Loaded PLGA Nanoparticles.

Rigon L, Salvalaio M, Pederzoli F, Legnini E, Duskey JT, D'Avanzo F, De Filippis C, Ruozi B, Marin O, Vandelli MA, Ottonelli I, Scarpa M, Tosi G, Tomanin R. Rigon L, et al. Int J Mol Sci. 2019 Apr 24;20(8):2014. doi: 10.3390/ijms20082014. Int J Mol Sci. 2019. PMID: 31022913 Free PMC article.

5

Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment.

D'Avanzo F, Rigon L, Zanetti A, Tomanin R. D'Avanzo F, et al. Int J Mol Sci. 2020 Feb 13;21(4):1258. doi: 10.3390/ijms21041258. Int J Mol Sci. 2020. PMID: 32070051 Free PMC article. Review.

6

Glial degeneration with oxidative damage drives neuronal demise in MPSII disease.

Zalfa C, Verpelli C, D'Avanzo F, Tomanin R, Vicidomini C, Cajola L, Manara R, Sala C, Scarpa M, Vescovi AL, De Filippis L. Zalfa C, et al. Cell Death Dis. 2016 Aug 11;7(8):e2331. doi: 10.1038/cddis.2016.231. Cell Death Dis. 2016. PMID: 27512952 Free PMC article.

7

Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.

Zanetti A, D'Avanzo F, AlSayed M, Brusius-Facchin AC, Chien YH, Giugliani R, Izzo E, Kasper DC, Lin HY, Lin SP, Pollard L, Singh A, Tonin R, Wood T, Morrone A, Tomanin R. Zanetti A, et al. Hum Mutat. 2021 Nov;42(11):1384-1398. doi: 10.1002/humu.24270. Epub 2021 Aug 23. Hum Mutat. 2021. PMID: 34387910 Free PMC article. Review.

8

Mucopolysaccharidosis Type VI, an Updated Overview of the Disease.

D'Avanzo F, Zanetti A, De Filippis C, Tomanin R. D'Avanzo F, et al. Int J Mol Sci. 2021 Dec 15;22(24):13456. doi: 10.3390/ijms222413456. Int J Mol Sci. 2021. PMID: 34948256 Free PMC article. Review.

9

Glycosaminoglycan signatures in body fluids of mucopolysaccharidosis type II mouse model under long-term enzyme replacement therapy.

Maccari F, Rigon L, Mantovani V, Galeotti F, Salvalaio M, D'Avanzo F, Zanetti A, Capitani F, Gabrielli O, Tomanin R, Volpi N. Maccari F, et al. Among authors: d avanzo f. J Mol Med (Berl). 2022 Aug;100(8):1169-1179. doi: 10.1007/s00109-022-02221-3. Epub 2022 Jul 11. J Mol Med (Berl). 2022. PMID: 35816218 Free PMC article.

10

Mucopolysaccharidoses Differential Diagnosis by Mass Spectrometry-Based Analysis of Urine Free Glycosaminoglycans-A Diagnostic Prediction Model.

D'Avanzo F, Zanetti A, Dardis A, Scarpa M, Volpi N, Gatto F, Tomanin R. D'Avanzo F, et al. Biomolecules. 2023 Mar 15;13(3):532. doi: 10.3390/biom13030532. Biomolecules. 2023. PMID: 36979466 Free PMC article.

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