Selected Publications
van de Vlekkert D, Hu H, Weesner JA, Fremuth LE, Brown SA, Lu M, Gomero E, Campos Y, Sheppard H, d'Azzo A. AAV-mediated gene therapy for sialidosis. Mol Ther. 2024 May 25:S1525-0016(24)00331-9. doi: 10.1016/j.ymthe.2024.05.029.
Weesner JA, Annunziata I, van de Vlekkert D, Robinson CG, Campos Y, Mishra A, Fremuth LE, Gomero E, Hu H, d'Azzo A. Altered GM1 catabolism affects NMDAR-mediated Ca2+ signaling at ER-PM junctions and increases synaptic spine formation in a GM1-gangliosidosis model. Cell Rep. 2024 May 28;43(5):114117. doi: 10.1016/j.celrep.2024.114117.
Weesner JA, Annunziata I, van de Vlekkert D, d'Azzo A. Glycosphingolipids within membrane contact sites influence their function as signaling hubs in neurodegenerative diseases. FEBS Open Bio. 2023 Sep;13(9):1587-1600. doi: 10.1002/2211-5463.13605.
Qiu X, Campos Y, van de Vlekkert D, Gomero E, Tanwar AC, Kalathur R, Weesner JA, Bongiovanni A, Demmers J, d'Azzo A. Distinct functions of dimeric and monomeric scaffold protein Alix in regulating F-actin assembly and loading of exosomal cargo. J Biol Chem. 2022 Oct;298(10):102425. doi: 10.1016/j.jbc.2022.102425.
Machado ER, van de Vlekkert D, Sheppard HS, Perry S, Downing SM, Laxton J, Ashmun R, Finkelstein DB, Neale GA, Hu H, Harwood FC, Koo SC, Grosveld GC, d'Azzo A. Haploinsufficiency of the lysosomal sialidase NEU1 results in a model of pleomorphic rhabdomyosarcoma in mice. Commun Biol. 2022 Sep 20;5(1):992. doi: 10.1038/s42003-022-03968-8.
Weesner JA, Annunziata I, Yang T, Acosta W, Gomero E, Hu H, van de Vlekkert D, Ayala J, Qiu X, Fremuth LE, Radin DN, Cramer CL, d'Azzo A. Preclinical Enzyme Replacement Therapy with a Recombinant β-Galactosidase-Lectin Fusion for CNS Delivery and Treatment of GM1-Gangliosidosis. Cells. 2022 Aug 19;11(16):2579. doi: 10.3390/cells11162579.
Campos Y, Nourse A, Tanwar A, Kalathur R, Bonten E, d'Azzo A. Biophysical and functional study of CRL5Ozz, a muscle specific ubiquitin ligase complex. Sci Rep. 2022 May 12;12(1):7820. doi: 10.1038/s41598-022-10955-w.
Hu H, Mosca R, Gomero E, van de Vlekkert D, Campos Y, Fremuth LE, Brown SA, Weesner JA, Annunziata I, d'Azzo A. AAV-mediated gene therapy for galactosialidosis: A long-term safety and efficacy study. Mol Ther Methods Clin Dev. 2021 Oct 28;23:644-658. doi: 10.1016/j.omtm.2021.10.007.
Bongiovanni A, Cusimano A, Annunziata I, d'Azzo A. Sialylation of host proteins as targetable risk factor for COVID-19 susceptibility and spreading: A hypothesis. FASEB Bioadv. 2021 Jan 13;3(3):192-197. doi: 10.1096/fba.2020-00073.
Sano R, Annunziata I, Patterson A, Moshiach S, Gomero E, Opferman J, Forte M, d'Azzo A. GM1-ganglioside accumulation at the mitochondria-associated ER membranes links ER stress to Ca(2+)-dependent mitochondrial apoptosis. Mol Cell. 2009 Nov 13;36(3):500-11. doi: 10.1016/j.molcel.2009.10.021.
d'Azzo A, Bonten E. Molecular mechanisms of pathogenesis in a glycosphingolipid and a glycoprotein storage disease. Biochem Soc Trans. 2010 Dec;38(6):1453-7. doi: 10.1042/BST0381453.
Cuervo AM, Mann L, Bonten EJ, d'Azzo A, Dice JF. Cathepsin A regulates chaperone-mediated autophagy through cleavage of the lysosomal receptor. EMBO J. 2003 Jan 2;22(1):47-59. doi: 10.1093/emboj/cdg002.
Machado ER, Annunziata I, van de Vlekkert D, Grosveld GC, d'Azzo A. Lysosomes and Cancer Progression: A Malignant Liaison. Front Cell Dev Biol Feb 26;9:642494, 2021. doi: 10.3389/fcell.2021.642494. eCollection 2021. PMID: 33718382. Review.
Van De Vlekkert D, Qiu X, Annunziata I, d'Azzo A. Isolation, Purification and Characterization of Exosomes fromFibroblast Cultures of Skeletal Muscle. Bio Protoc Apr 5;10(7):e3576, 2020. doi: 10.21769/BioProtoc.3576. eCollection Apr 5, 2020. PMID: 33659546 .
Cadaoas J, Hu H, Boyle G, Gomero E, Mosca R, Jayashankar K, Machado M, Cullen S, Guzman B, van de Vlekkert D, Annunziata I, Vellard M, Kakkis E, Koppaka V, d'Azzo A. Galactosialidosis: preclinical enzyme replacement therapy in a mouse model of the disease, a proof of concept. Mol Ther Methods Clin Dev Nov 20;20:191-203, 2020. doi: 10.1016/j.omtm.2020.11.012. eCollection 2021 Mar 12, 2021. PMID: 33426146.
Luu AR, Wong C, Agrawal V, Wise N, Handyside B, Lo MJ, Pacheco G, Felix JB, Giaramita A, d'Azzo A, Vincelette J, Bullens S, Bunting S, Christianson TM, Hague CM, LeBowitz JH, Yogalingam G. Intermittent enzyme replacement therapy with recombinant human β-galactosidase prevents neuraminidase 1 deficiency. J Biol Chem Sep 25;295(39):13556-13569, 2020. doi: 10.1074/jbc.RA119.010794. Epub Jul 28, 2020. PMID: 32727849
Han MJ, Annunziata I, Weesner J, Campos Y, Salie M, O'Reilly C, d'Azzo A. Generation of human induced pluripotent stem cells (hIPSCs) from sialidosis types I and II patients with pathogenic neuraminidase 1 mutations. Stem Cell Res Jul;46:101836, 2020. doi: 10.1016/j.scr.2020.101836. Epub May 6, 2020.
d'Azzo A, Annunziata I. Transcription factor competition regulates lysosomal biogenesis and autophagy. Mol Cell Oncol Jan 6;7(2):1685840, 2020. doi: 10.1080/23723556.2019.1685840. eCollection 2020. PMID: 32158913.
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. Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I. J Clin Med Mar 4;9(3):695, 2020. doi: 10.3390/jcm9030695. PMID: 32143456
Chen JC, Luu AR, Wise N, Angelis R, Agrawal V, Mangini L, Vincelette J, Handyside B, Sterling H, 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. Intracerebroventricular enzyme replacement therapy with β-galactosidase reverses brain pathologies due to GM1 gangliosidosis in mice. J Biol Chem Sep 25;295(39):13532-13555, 2020. doi: 10.1074/jbc.RA119.009811. Epub Sep 3, 2019. PMID:31481471
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. MYC competes with MiT/TFE in regulating lysosomal biogenesis and autophagy through an epigenetic rheostat. Nat Commun Aug 9;10(1):3623, 2019. doi: 10.1038/s41467-019-11568-0. PMID: 31399583
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. Excessive exosome release is the pathogenic pathway linking a lysosomal deficiency to generalized fibrosis. Sci Adv Jul 17;5(7):eaav3270, 2019. doi: 10.1126/sciadv.aav3270. eCollection Jul 2019. PMID: 31328155
Platt FM, d'Azzo A, Davidson BL, Neufeld EF, Tifft CJ. Lysosomal storage diseases. Nat Rev Dis Primers Oct 1;4(1):27, 2018. doi: 10.1038/s41572-018-0025-4. PMID: 30275469. Review.
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. Palmitoylation is a post-translational modification of Alix regulating the membrane organization of exosome-like small extracellular vesicles. Biochim Biophys Acta Gen Subj Dec;1862(12):2879-2887, 2018. doi: 10.1016/j.bbagen.2018.09.004. Epub Sep 7, 2018. PMID: 30251702.
Annunziata I, Sano R, d'Azzo A. Mitochondria-associated ER membranes (MAMs) and lysosomal storage diseases. Cell Death Dis Feb 28;9(3):328, 2018. doi: 10.1038/s41419-017-0025-4. PMID: 29491402. Review.
Annunziata I, d'Azzo A. Galactosialidosis: historic aspects and overview of investigated and emerging treatment options. Expert Opin Orphan Drugs 7;5(2):131-141, 2017. doi: 10.1080/21678707.2016.1266933. Epub 2016 Dec 14. PMID: 28603679.
Campos Y, Qiu X, Gomero E, Wakefield R, Horner L, Brutkowski W, Han YG, Solecki D, Frase S, Bongiovanni A, d'Azzo A. Alix-mediated assembly of the actomyosin-tight junction polarity complex preserves epithelial polarity and epithelial barrier. Nat Commun Jun 23;7:11876, 2016. doi: 10.1038/ncomms11876. PMID: 27336173.
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. Regulated lysosomal exocytosis mediates cancer progression. Sci Adv Dec 18;1(11):e1500603, 2015. doi: 10.1126/sciadv.1500603. eCollection Dec 2015. PMID: 26824057.
d'Azzo A, Machado E, Annunziata I. Pathogenesis, Emerging therapeutic targets and Treatment in Sialidosis. Expert Opin Orphan Drugs 3(5):491-504, 2015. doi: 10.1517/21678707.2015.1025746. Epub Apr 13, 2015. PMID: 26949572.
Bonten EJ, Annunziata I, d'Azzo A. Lysosomal multienzyme complex: pros and cons of working together. Cell Mol Life Sci Jun;71(11):2017-32, 2014. doi: 10.1007/s00018-013-1538-3. Epub Dec 15, 2013. PMID: 24337808. Review.
Annunziata I, Patterson A, Helton D, Hu H, Moshiach S, Gomero E, Nixon R, d'Azzo A. Lysosomal NEU1 deficiency affects amyloid precursor protein levels and amyloid-β secretion via deregulated lysosomal exocytosis. Nat Commun 4:2734, 2013. doi: 10.1038/ncomms3734. PMID: 24225533.
Bonten EJ, Yogalingam G, Hu H, Gomero E, van de Vlekkert D, d'Azzo A. Chaperone-mediated gene therapy with recombinant AAV-PPCA in a new mouse model of type I sialidosis. Biochim Biophys Acta Oct;1832(10):1784-92, 2013. doi: 10.1016/j.bbadis.2013.06.002. Epub Jun 12, 2013. PMID: 23770387.
Annunziata I, d'Azzo A. Interorganellar membrane microdomains: dynamic platforms in the control of calcium signaling and apoptosis. Cells Aug 2;2(3):574-90, 2013. doi: 10.3390/cells2030574. PMID: 24709798.
Bongiovanni A, Romancino DP, Campos Y, Paterniti G, Qiu X, Moshiach S, Di Felice V, Vergani N, Ustek D, d'Azzo A. Alix protein is substrate of Ozz-E3 ligase and modulates actin remodeling in skeletal muscle. J Biol Chem Apr 6;287(15):12159-71, 2012. doi: 10.1074/jbc.M111.297036. Epub Feb 13, 2012. PMID: 22334701
Hu H, Gomero E, Bonten E, Gray JT, Allay J, Wu Y, Wu J, Calabrese C, Nienhuis A, d'Azzo A. Preclinical dose-finding study with a liver-tropic, recombinant AAV-2/8 vector in the mouse model of galactosialidosis. Mol Ther Feb;20(2):267-74, 2012. doi: 10.1038/mt.2011.227. Epub Oct 18, 2011. PMID: 22008912
d'Azzo A, Bonten E. Molecular mechanisms of pathogenesis in a glycosphingolipid and a glycoprotein storage disease. Biochem Soc Trans Dec;38(6):1453-7, 2010. doi: 10.1042/BST0381453. PMID: 21118106.
Campos Y, Qiu X, Zanoteli E, Moshiach S, Vergani N, Bongiovanni A, Harris AJ, d'Azzo A. Ozz-E3 ubiquitin ligase targets sarcomeric embryonic myosin heavy chain during muscle development. PLoS One Mar 24;5(3):e9866, 2010. doi: 10.1371/journal.pone.0009866. PMID: 20352047
Sano R, Annunziata I, Patterson A, Moshiach S, Gomero E, Opferman J, Forte M, d'Azzo A. GM1-ganglioside accumulation at the mitochondria-associated ER membranes links ER stress to Ca(2+)-dependent mitochondrial apoptosis. Mol Cell Nov 13;36(3):500-11, 2009. doi: 10.1016/j.molcel.2009.10.021. PMID: 19917257.
Yogalingam G, Bonten EJ, van de Vlekkert D, Hu H, Moshiach S, Connell SA, d'Azzo A. Dev Cell Jul;15(1):74-86, 2008. doi: 10.1016/j.devcel.2008.05.005. PMID: 18606142
Bonten EJ, Campos Y, Zaitsev V, Nourse A, Waddell B, Lewis W, Taylor G, d'Azzo A. Heterodimerization of the sialidase NEU1 with the chaperone protective protein/cathepsin A prevents its premature oligomerization. J Biol Chem Oct 9;284(41):28430-28441, 2009. doi: 10.1074/jbc.M109.031419. Epub Aug 7, 2009. PMID: 19666471.
Zanoteli E, van de Vlekkert D, Bonten EJ, Hu H, Mann L, Gomero EM, Harris AJ, Ghersi G, d'Azzo A. Muscle degeneration in neuraminidase 1-deficient mice results from infiltration of the muscle fibers by expanded connective tissue. Biochim Biophys Acta Jul-Aug;1802(7-8):659-72, 2010. doi: 10.1016/j.bbadis.2010.04.002. Epub Apr 11, 2010. PMID: 20388541.
Last update: May 2021