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Items: 1 to 50 of 136

1.

Characterization of glycan substrates accumulating in GM1 Gangliosidosis.

Lawrence R, Van Vleet JL, Mangini L, Harris A, Martin N, Clark W, Chandriani S, LeBowitz JH, Giugliani R, d'Azzo A, Yogalingam G, Crawford BE.

Mol Genet Metab Rep. 2019 Nov 3;21:100524. doi: 10.1016/j.ymgmr.2019.100524. eCollection 2019 Dec.

2.

Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview.

Caciotti A, Melani F, Tonin R, Cellai L, Catarzi S, Procopio E, Chilleri C, Mavridou I, Michelakakis H, Fioravanti A, d'Azzo A, Guerrini R, Morrone A.

Mol Genet Metab. 2019 Oct 31. pii: S1096-7192(19)30537-2. doi: 10.1016/j.ymgme.2019.09.005. [Epub ahead of print] Review.

PMID:
31711734
3.

Intracerebroventricular enzyme replacement therapy with Beta-Galactosidase reverses brain pathologies due to GM1 gangliosidosis in mice.

Chen JC, Luu AR, Wise N, Angelis R, Agrawal V, Mangini L, Vincelette J, Handyside B, Sterling HJ, Lo MJ, Wong H, Galicia N, Pacheco G, Van Vleet J, Giaramita A, Fong S, Roy SM, Hague C, Lawrence R, Bullens S, Christianson TM, d'Azzo A, Crawford BE, Bunting S, Lebowitz JH, Yogalingam G.

J Biol Chem. 2019 Sep 3. pii: jbc.RA119.009811. doi: 10.1074/jbc.RA119.009811. [Epub ahead of print]

4.

MYC competes with MiT/TFE in regulating lysosomal biogenesis and autophagy through an epigenetic rheostat.

Annunziata I, van de Vlekkert D, Wolf E, Finkelstein D, Neale G, Machado E, Mosca R, Campos Y, Tillman H, Roussel MF, Andrew Weesner J, Ellen Fremuth L, Qiu X, Han MJ, Grosveld GC, d'Azzo A.

Nat Commun. 2019 Aug 9;10(1):3623. doi: 10.1038/s41467-019-11568-0.

5.

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.

Sci Adv. 2019 Jul 17;5(7):eaav3270. doi: 10.1126/sciadv.aav3270. eCollection 2019 Jul.

6.

Publisher Correction: Lysosomal storage diseases.

Platt FM, d'Azzo A, Davidson BL, Neufeld EF, Tifft CJ.

Nat Rev Dis Primers. 2019 May 17;5(1):34. doi: 10.1038/s41572-019-0089-9.

PMID:
31101820
7.

Disruption of the MBD2-NuRD complex but not MBD3-NuRD induces high level HbF expression in human adult erythroid cells.

Yu X, Azzo A, Bilinovich SM, Li X, Dozmorov M, Kurita R, Nakamura Y, Williams DC Jr, Ginder GD.

Haematologica. 2019 Dec;104(12):2361-2371. doi: 10.3324/haematol.2018.210963. Epub 2019 Apr 19.

8.

Author Correction: Lysosomal storage diseases.

Platt FM, d'Azzo A, Davidson BL, Neufeld EF, Tifft CJ.

Nat Rev Dis Primers. 2018 Oct 18;4(1):36. doi: 10.1038/s41572-018-0037-0.

PMID:
30337566
9.

Lysosomal storage diseases.

Platt FM, d'Azzo A, Davidson BL, Neufeld EF, Tifft CJ.

Nat Rev Dis Primers. 2018 Oct 1;4(1):27. doi: 10.1038/s41572-018-0025-4. Review. Erratum in: Nat Rev Dis Primers. 2018 Oct 18;4(1):36. Nat Rev Dis Primers. 2019 May 17;5(1):34.

PMID:
30275469
10.

Palmitoylation is a post-translational modification of Alix regulating the membrane organization of exosome-like small extracellular vesicles.

Romancino DP, Buffa V, Caruso S, Ferrara I, Raccosta S, Notaro A, Campos Y, Noto R, Martorana V, Cupane A, Giallongo A, d'Azzo A, Manno M, Bongiovanni A.

Biochim Biophys Acta Gen Subj. 2018 Dec;1862(12):2879-2887. doi: 10.1016/j.bbagen.2018.09.004. Epub 2018 Sep 7.

PMID:
30251702
11.

Mitochondria-associated ER membranes (MAMs) and lysosomal storage diseases.

Annunziata I, Sano R, d'Azzo A.

Cell Death Dis. 2018 Feb 28;9(3):328. doi: 10.1038/s41419-017-0025-4. Review.

12.

Galactosialidosis: historic aspects and overview of investigated and emerging treatment options.

Annunziata I, d'Azzo A.

Expert Opin Orphan Drugs. 2017;5(2):131-141. doi: 10.1080/21678707.2016.1266933. Epub 2016 Dec 14.

13.

The GM1 and GM2 Gangliosidoses: Natural History and Progress toward Therapy.

Regier DS, Proia RL, D'Azzo A, Tifft CJ.

Pediatr Endocrinol Rev. 2016 Jun;13 Suppl 1:663-73. Review.

PMID:
27491214
14.

Alix-mediated assembly of the actomyosin-tight junction polarity complex preserves epithelial polarity and epithelial barrier.

Campos Y, Qiu X, Gomero E, Wakefield R, Horner L, Brutkowski W, Han YG, Solecki D, Frase S, Bongiovanni A, d'Azzo A.

Nat Commun. 2016 Jun 23;7:11876. doi: 10.1038/ncomms11876.

15.

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.

Sci Adv. 2015 Dec 18;1(11):e1500603. doi: 10.1126/sciadv.1500603. eCollection 2015 Dec.

16.

Loss of Cellular Sialidases Does Not Affect the Sialylation Status of the Prion Protein but Increases the Amounts of Its Proteolytic Fragment C1.

Katorcha E, Klimova N, Makarava N, Savtchenko R, Pan X, Annunziata I, Takahashi K, Miyagi T, Pshezhetsky AV, d'Azzo A, Baskakov IV.

PLoS One. 2015 Nov 16;10(11):e0143218. doi: 10.1371/journal.pone.0143218. eCollection 2015.

17.

Neuraminidase-1 mediates skeletal muscle regeneration.

Neves Jde C, Rizzato VR, Fappi A, Garcia MM, Chadi G, van de Vlekkert D, d'Azzo A, Zanoteli E.

Biochim Biophys Acta. 2015 Sep;1852(9):1755-64. doi: 10.1016/j.bbadis.2015.05.006. Epub 2015 May 19.

18.

Bis(monoacylglycero)phosphate: a secondary storage lipid in the gangliosidoses.

Akgoc Z, Sena-Esteves M, Martin DR, Han X, d'Azzo A, Seyfried TN.

J Lipid Res. 2015 May;56(5):1006-13. doi: 10.1194/jlr.M057851. Epub 2015 Mar 20.

19.

Myelin abnormalities in the optic and sciatic nerves in mice with GM1-gangliosidosis.

Heinecke KA, Luoma A, d'Azzo A, Kirschner DA, Seyfried TN.

ASN Neuro. 2015 Feb 18;7(1). pii: 1759091415568913. doi: 10.1177/1759091415568913. Print 2015 Jan-Feb.

20.

Isolation of mitochondria-associated ER membranes (MAMs) and glycosphingolipid-enriched microdomains (GEMs) from brain tissues and neuronal cells.

Annunziata I, Patterson A, d'Azzo A.

Methods Mol Biol. 2015;1264:25-33. doi: 10.1007/978-1-4939-2257-4_3.

PMID:
25631000
21.

Pathogenesis, Emerging therapeutic targets and Treatment in Sialidosis.

d'Azzo A, Machado E, Annunziata I.

Expert Opin Orphan Drugs. 2015;3(5):491-504. Epub 2015 Apr 13.

22.

Sialylation of prion protein controls the rate of prion amplification, the cross-species barrier, the ratio of PrPSc glycoform and prion infectivity.

Katorcha E, Makarava N, Savtchenko R, D'Azzo A, Baskakov IV.

PLoS Pathog. 2014 Sep 11;10(9):e1004366. doi: 10.1371/journal.ppat.1004366. eCollection 2014 Sep.

23.

Broad and direct interaction between TLR and Siglec families of pattern recognition receptors and its regulation by Neu1.

Chen GY, Brown NK, Wu W, Khedri Z, Yu H, Chen X, van de Vlekkert D, D'Azzo A, Zheng P, Liu Y.

Elife. 2014 Sep 3;3:e04066. doi: 10.7554/eLife.04066.

24.

In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization.

Bonardi D, Ravasio V, Borsani G, d'Azzo A, Bresciani R, Monti E, Giacopuzzi E.

PLoS One. 2014 Aug 25;9(8):e104229. doi: 10.1371/journal.pone.0104229. eCollection 2014.

25.

Lysosomal multienzyme complex: pros and cons of working together.

Bonten EJ, Annunziata I, d'Azzo A.

Cell Mol Life Sci. 2014 Jun;71(11):2017-32. doi: 10.1007/s00018-013-1538-3. Epub 2013 Dec 15. Review.

26.

Lysosomal NEU1 deficiency affects amyloid precursor protein levels and amyloid-β secretion via deregulated lysosomal exocytosis.

Annunziata I, Patterson A, Helton D, Hu H, Moshiach S, Gomero E, Nixon R, d'Azzo A.

Nat Commun. 2013;4:2734. doi: 10.1038/ncomms3734.

27.

Galactosialidosis: review and analysis of CTSA gene mutations.

Caciotti A, Catarzi S, Tonin R, Lugli L, Perez CR, Michelakakis H, Mavridou I, Donati MA, Guerrini R, d'Azzo A, Morrone A.

Orphanet J Rare Dis. 2013 Aug 2;8:114. doi: 10.1186/1750-1172-8-114. Review.

28.

Chaperone-mediated gene therapy with recombinant AAV-PPCA in a new mouse model of type I sialidosis.

Bonten EJ, Yogalingam G, Hu H, Gomero E, van de Vlekkert D, d'Azzo A.

Biochim Biophys Acta. 2013 Oct;1832(10):1784-92. doi: 10.1016/j.bbadis.2013.06.002. Epub 2013 Jun 12.

29.

Identification and characterization of the nano-sized vesicles released by muscle cells.

Romancino DP, Paterniti G, Campos Y, De Luca A, Di Felice V, d'Azzo A, Bongiovanni A.

FEBS Lett. 2013 May 2;587(9):1379-84. doi: 10.1016/j.febslet.2013.03.012. Epub 2013 Mar 20.

30.

Mitochondria-associated ER membranes (MAMs) and glycosphingolipid enriched microdomains (GEMs): isolation from mouse brain.

Annunziata I, Patterson A, d'Azzo A.

J Vis Exp. 2013 Mar 4;(73):e50215. doi: 10.3791/50215.

31.

Identification and characterization of PlAlix, the Alix homologue from the Mediterranean sea urchin Paracentrotus lividus.

Romancino DP, Anello L, Morici G, d'Azzo A, Bongiovanni A, Di Bernardo M.

Dev Growth Differ. 2013 Feb;55(2):237-46. doi: 10.1111/dgd.12023. Epub 2013 Jan 10.

PMID:
23302023
32.

Interorganellar membrane microdomains: dynamic platforms in the control of calcium signaling and apoptosis.

Annunziata I, d'Azzo A.

Cells. 2013 Aug 2;2(3):574-90. doi: 10.3390/cells2030574.

33.

Emphysema in an adult with galactosialidosis linked to a defect in primary elastic fiber assembly.

Lehman A, Mattman A, Sin D, Pare P, Zong Z, d'Azzo A, Campos Y, Sirrs S, Hinek A.

Mol Genet Metab. 2012 May;106(1):99-103. doi: 10.1016/j.ymgme.2012.02.004. Epub 2012 Feb 8.

PMID:
22386972
34.

Alix protein is substrate of Ozz-E3 ligase and modulates actin remodeling in skeletal muscle.

Bongiovanni A, Romancino DP, Campos Y, Paterniti G, Qiu X, Moshiach S, Di Felice V, Vergani N, Ustek D, d'Azzo A.

J Biol Chem. 2012 Apr 6;287(15):12159-71. doi: 10.1074/jbc.M111.297036. Epub 2012 Feb 13.

35.

Preclinical dose-finding study with a liver-tropic, recombinant AAV-2/8 vector in the mouse model of galactosialidosis.

Hu H, Gomero E, Bonten E, Gray JT, Allay J, Wu Y, Wu J, Calabrese C, Nienhuis A, d'Azzo A.

Mol Ther. 2012 Feb;20(2):267-74. doi: 10.1038/mt.2011.227. Epub 2011 Oct 18.

36.

GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.

Caciotti A, Garman SC, Rivera-Colón Y, Procopio E, Catarzi S, Ferri L, Guido C, Martelli P, Parini R, Antuzzi D, Battini R, Sibilio M, Simonati A, Fontana E, Salviati A, Akinci G, Cereda C, Dionisi-Vici C, Deodato F, d'Amico A, d'Azzo A, Bertini E, Filocamo M, Scarpa M, di Rocco M, Tifft CJ, Ciani F, Gasperini S, Pasquini E, Guerrini R, Donati MA, Morrone A.

Biochim Biophys Acta. 2011 Jul;1812(7):782-90. doi: 10.1016/j.bbadis.2011.03.018. Epub 2011 Apr 7.

37.

Molecular mechanisms of pathogenesis in a glycosphingolipid and a glycoprotein storage disease.

d'Azzo A, Bonten E.

Biochem Soc Trans. 2010 Dec;38(6):1453-7. doi: 10.1042/BST0381453.

38.

AAV-mediated gene delivery in adult GM1-gangliosidosis mice corrects lysosomal storage in CNS and improves survival.

Baek RC, Broekman ML, Leroy SG, Tierney LA, Sandberg MA, d'Azzo A, Seyfried TN, Sena-Esteves M.

PLoS One. 2010 Oct 18;5(10):e13468. doi: 10.1371/journal.pone.0013468.

39.

Sialidases in vertebrates: a family of enzymes tailored for several cell functions.

Monti E, Bonten E, D'Azzo A, Bresciani R, Venerando B, Borsani G, Schauer R, Tettamanti G.

Adv Carbohydr Chem Biochem. 2010;64:403-79. doi: 10.1016/S0065-2318(10)64007-3. Review.

PMID:
20837202
40.

LPS-induced cytokine production in human dendritic cells is regulated by sialidase activity.

Stamatos NM, Carubelli I, van de Vlekkert D, Bonten EJ, Papini N, Feng C, Venerando B, d'Azzo A, Cross AS, Wang LX, Gomatos PJ.

J Leukoc Biol. 2010 Dec;88(6):1227-39. doi: 10.1189/jlb.1209776. Epub 2010 Sep 8.

41.

Muscle degeneration in neuraminidase 1-deficient mice results from infiltration of the muscle fibers by expanded connective tissue.

Zanoteli E, van de Vlekkert D, Bonten EJ, Hu H, Mann L, Gomero EM, Harris AJ, Ghersi G, d'Azzo A.

Biochim Biophys Acta. 2010 Jul-Aug;1802(7-8):659-72. doi: 10.1016/j.bbadis.2010.04.002. Epub 2010 Apr 11.

42.

Ozz-E3 ubiquitin ligase targets sarcomeric embryonic myosin heavy chain during muscle development.

Campos Y, Qiu X, Zanoteli E, Moshiach S, Vergani N, Bongiovanni A, Harris AJ, d'Azzo A.

PLoS One. 2010 Mar 24;5(3):e9866. doi: 10.1371/journal.pone.0009866.

43.

GM1-ganglioside accumulation at the mitochondria-associated ER membranes links ER stress to Ca(2+)-dependent mitochondrial apoptosis.

Sano R, Annunziata I, Patterson A, Moshiach S, Gomero E, Opferman J, Forte M, d'Azzo A.

Mol Cell. 2009 Nov 13;36(3):500-11. doi: 10.1016/j.molcel.2009.10.021.

44.

Vacuolization and alterations of lysosomal membrane proteins in cochlear marginal cells contribute to hearing loss in neuraminidase 1-deficient mice.

Wu X, Steigelman KA, Bonten E, Hu H, He W, Ren T, Zuo J, d'Azzo A.

Biochim Biophys Acta. 2010 Feb;1802(2):259-68. doi: 10.1016/j.bbadis.2009.10.008. Epub 2009 Oct 24.

45.

Protective protein/cathepsin A rescues N-glycosylation defects in neuraminidase-1.

Wang D, Zaitsev S, Taylor G, d'Azzo A, Bonten E.

Biochim Biophys Acta. 2009 Apr;1790(4):275-82. doi: 10.1016/j.bbagen.2009.01.006.

46.

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.

J Biol Chem. 2009 Oct 9;284(41):28430-41. doi: 10.1074/jbc.M109.031419. Epub 2009 Aug 7.

47.

Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients.

Caciotti A, Di Rocco M, Filocamo M, Grossi S, Traverso F, d'Azzo A, Cavicchi C, Messeri A, Guerrini R, Zammarchi E, Donati MA, Morrone A.

J Neurol. 2009 Nov;256(11):1911-5. doi: 10.1007/s00415-009-5213-4. Epub 2009 Jul 1. Review.

PMID:
19568825
48.

Mitochondrial alterations in dynamin 2-related centronuclear myopathy.

Zanoteli E, Vergani N, Campos Y, Vainzof M, Oliveira AS, d'Azzo A.

Arq Neuropsiquiatr. 2009 Mar;67(1):102-4. No abstract available.

49.

A Brazilian galactosialidosis patient given renal transplantation: a case report.

Kiss A, Zen PR, Bittencourt V, Paskulin GA, Giugliani R, d'Azzo A, Schwartz IV.

J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S205-8. doi: 10.1007/s10545-008-0730-3. Epub 2008 Oct 21.

PMID:
18937050
50.

Neuraminidase-1 is required for the normal assembly of elastic fibers.

Starcher B, d'Azzo A, Keller PW, Rao GK, Nadarajah D, Hinek A.

Am J Physiol Lung Cell Mol Physiol. 2008 Oct;295(4):L637-47. doi: 10.1152/ajplung.90346.2008. Epub 2008 Aug 8.

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