d'Azzo A - Search Results

1

Sialidosis presenting as severe nonimmune fetal hydrops is associated with two novel mutations in lysosomal alpha-neuraminidase.

Loren DJ, Campos Y, d'Azzo A, Wyble L, Grange DK, Gilbert-Barness E, White FV, Hamvas A. Loren DJ, et al. J Perinatol. 2005 Jul;25(7):491-4. doi: 10.1038/sj.jp.7211335. J Perinatol. 2005. PMID: 15908988

2

Generation of human induced pluripotent stem cells (hIPSCs) from sialidosis types I and II patients with pathogenic neuraminidase 1 mutations.

Han MJ, Annunziata I, Weesner J, Campos Y, Salie M, O'Reilly C, d'Azzo A. Han MJ, et al. Stem Cell Res. 2020 Jul;46:101836. doi: 10.1016/j.scr.2020.101836. Epub 2020 May 6. Stem Cell Res. 2020. PMID: 32485644 Free PMC article.

3

Heterodimerization of the sialidase NEU1 with the chaperone protective protein/cathepsin A prevents its premature oligomerization.

Bonten EJ, Campos Y, Zaitsev V, Nourse A, Waddell B, Lewis W, Taylor G, d'Azzo A. Bonten EJ, et al. J Biol Chem. 2009 Oct 9;284(41):28430-28441. doi: 10.1074/jbc.M109.031419. Epub 2009 Aug 7. J Biol Chem. 2009. PMID: 19666471 Free PMC article.

4

Excessive exosome release is the pathogenic pathway linking a lysosomal deficiency to generalized fibrosis.

van de Vlekkert D, Demmers J, Nguyen XX, Campos Y, Machado E, Annunziata I, Hu H, Gomero E, Qiu X, Bongiovanni A, Feghali-Bostwick CA, d'Azzo A. van de Vlekkert D, et al. Sci Adv. 2019 Jul 17;5(7):eaav3270. doi: 10.1126/sciadv.aav3270. eCollection 2019 Jul. Sci Adv. 2019. PMID: 31328155 Free PMC article.

5

Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I.

Mosca R, van de Vlekkert D, Campos Y, Fremuth LE, Cadaoas J, Koppaka V, Kakkis E, Tifft C, Toro C, Allievi S, Gellera C, Canafoglia L, Visser G, Annunziata I, d'Azzo A. Mosca R, et al. J Clin Med. 2020 Mar 4;9(3):695. doi: 10.3390/jcm9030695. J Clin Med. 2020. PMID: 32143456 Free PMC article.

6

Regulated lysosomal exocytosis mediates cancer progression.

Machado E, White-Gilbertson S, van de Vlekkert D, Janke L, Moshiach S, Campos Y, Finkelstein D, Gomero E, Mosca R, Qiu X, Morton CL, Annunziata I, d'Azzo A. Machado E, et al. Sci Adv. 2015 Dec 18;1(11):e1500603. doi: 10.1126/sciadv.1500603. eCollection 2015 Dec. Sci Adv. 2015. PMID: 26824057 Free PMC article.

7

New mutations in two Dutch patients with early infantile galactosialidosis.

Groener J, Maaswinkel-Mooy P, Smit V, van der Hoeven M, Bakker J, Campos Y, d'Azzo A. Groener J, et al. Mol Genet Metab. 2003 Mar;78(3):222-8. doi: 10.1016/s1096-7192(03)00005-2. Mol Genet Metab. 2003. PMID: 12649068

8

Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis.

Georgiou T, Drousiotou A, Campos Y, Caciotti A, Sztriha L, Gururaj A, Ozand P, Zammarchi E, Morrone A, D'Azzo A. Georgiou T, et al. Hum Mutat. 2004 Oct;24(4):352. doi: 10.1002/humu.9279. Hum Mutat. 2004. PMID: 15365997

9

AAV-mediated gene therapy for galactosialidosis: A long-term safety and efficacy study.

Hu H, Mosca R, Gomero E, van de Vlekkert D, Campos Y, Fremuth LE, Brown SA, Weesner JA, Annunziata I, d'Azzo A. Hu H, et al. Mol Ther Methods Clin Dev. 2021 Oct 28;23:644-658. doi: 10.1016/j.omtm.2021.10.007. eCollection 2021 Dec 10. Mol Ther Methods Clin Dev. 2021. PMID: 34901309 Free PMC article.

10

Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis.

Bonten EJ, Arts WF, Beck M, Covanis A, Donati MA, Parini R, Zammarchi E, d'Azzo A. Bonten EJ, et al. Hum Mol Genet. 2000 Nov 1;9(18):2715-25. doi: 10.1093/hmg/9.18.2715. Hum Mol Genet. 2000. PMID: 11063730

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