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d'Azzo: Complete List of Publications

Danesino C, d'Azzo A, Colombo C, Marni E. Sindrome di Lesch-Nyhan: Presenza di attivita residua dell'ipoxantine-guanina fosforibosil transferasl in linfociti stimolati. Riv Ital Ped 3:39-45, 1977.

d'Azzo A, Hoogeveen A, de Wit-Verbeek HA. A rapid and simple microfractionation method for the analysis of Hexosaminidase A and B activities in small numbers of cultured (amniotic fluid) cells. Clin Chim Acta 88:1-7, 1978.

Danesino C, d'Azzo A, Maraschio P, Fraccaro M. The gene of human peptidase A is on band 18q23 and shows triplex and uniplex dosage effect. Hum Genet 43:299-305, 1978.

d'Azzo A, Halley DJJ, Hoogeveen AT, Galjaard H. Correction of "I-cell" defect by hybridization with lysosomal enzyme deficient human fibroblasts. Am J Hum Genet 32:519-528, 1980.

d'Azzo A, Konings A, Verkerk A, Jongkind JF, Galjaard H. Fusion with enucleated fibroblasts corrects "I-cell" defect. Exp Cell Res 127:484-486, 1980.

Halley DJJ, Winchester BG, Burditt LJ, d'Azzo A, Robinson D, Galjaard H. Comparison of the a-mannosidases in fibroblast cultures from patients with Mannosidosis and Mucolipidosis II and from con­trols. Biochem J 187:541-543, 1980.

Halley DJJ, Sacchi N, d'Azzo A, Reuser AJJ, Galjaard H. Intercellular exchange of lysosomal hydrolases between mutant human fibroblasts and other cell types. Exp Cell Res 129:383-392, 1980.

Hoogeveen AT, Verheijen FW, d'Azzo A, Galjaard H. Genetic heterogeneity in human neuraminidase deficiency. Nature 285:500-502, 1980.

Galjaard H, d'Azzo A, Hoogeveen AT, Konings A, Verheijen FW. In vitro correction of genetic enzyme deficiencies by somatic cell hybridization. Eur J Cell Biol 22:32, 1980.

Hoogeveen A, d'Azzo A, Brossmer R, Galjaard H. Correction of combined β-galactosidase/neuraminidase deficiency in human fibroblasts. Biochem Biophys Res Commun 103:292-299, 1981.

d'Azzo A, Hoogeveen A, Reuser AJJ, Robinson D, Galjaard H. Molecular defect in combined β-galactosidase and neuraminidase deficiency in man. PNAS USA 79:4535-4538, 1982.

Varon R, Kleijer WJ, Thompson EJ, d'Azzo A. Evidence for the deficiency of β-glucosidase-activating factor in fibroblasts of patients with I-cell disease. Hum Genet 62:66-69, 1982.

Rosenberg LE, Desnick RJ, Bach G, van Diggelen OP, d'Azzo A, Mueller OT, Wolf B, Kraus JP, Valezquez A, Berman M, Chemke J. Workshop on Inborn Errors of Metabolism. Prog Clin Biol Res 103:223-229, 1982.

d'Azzo A, Proia RL, Neufeld EF. Faulty association of α- and β-subunits in some forms of β-hexosaminidase A deficiency. J Biol Chem 259:11070-11074, 1984.

Hoogeveen AT, Graham-Kawashima H, d'Azzo A, Galjaard H. Processing of human β-galactosidase in GM1-gangliosidosis and Morquio B syndrome. J Biol Chem 259:1974-1977, 1984.

Proia RL, d'Azzo A, Neufeld EF. Association of α- and β-subunits during the biosynthesis of β-hexosaminidase in cultured human fibroblasts. J Biol Chem 259:3350-354, 1984.

Danesino C, d'Azzo A, Arico M, Podesta F, Beluffi G, Bianchi E. Nonprogressive psychomotor retardation in a child with severe deficiency of arylsulphatase A activity. Clin Genet 26:462-471, 1984.

Grebner EG, Mansfield DA, Kagharan SS, Kolodny EH, d'Azzo A, Neufeld EF, Jackson LG. Two abnormalities of hexosaminidase A in clinically normal individuals. Am J Hum Genet 38:505-515, 1986.

Galjaard H, Willemsen R, Hoogeveen AT, Mancini GM, Palmeri S, Verheijen FW, d'Azzo A. Molecular heterogeneity in human beta-galactosidase and neuraminidase deficiency. Enzyme 38(1-4):132-143, 1987.

Strisciuglio P, Parenti G, Giudice C, Lijoi S, Hoogeveen AT, d'Azzo A. The presence of a reduced amount of 32 kD "protective protein" is a distinct biochemical finding in late infantile galactosialidosis. Hum Genet 80:304-306, 1988.

Galjart NJ, Gillemans N, Harris A, van der Horts GTJ, Verheijen FW, Galjaarad H, d'Azzo A. Expression of cDNA encoding the human "protective protein" associated with lysosomal β-galactosidase and neuraminidase: Homology to yeast proteases. Cell 54:755-764, 1988.

Morreau H, Galjart NJ, Gillemans N, Willemsen R, van der Horst GTJ, d'Azzo A. Alternative splicing of β-galactosidase mRNA gene rates, the classic lysosomal enzyme and a β-galactosidase-related protein. J Biol Chem 264:20655-20663, 1989.

van der Horst GTJ, Galjart NJ, d'Azzo A, Galjaard H, Verheijen FW. Identification and in vitro reconstitution of lysosomal neuraminidase from human placenta. J Biol Chem 264:1317-1322, 1989.

Galjart NJ, Gillemans N, Meijer D, d'Azzo A. Mouse "protective protein": cDNA cloning, sequence comparison and expression. J Biol Chem 265:4678-4684, 1990.

Dlott B, d'Azzo A, Quon DVK, Neufeld EF. Two mutations produce intron insertion in mRNA and elongated β-subunit of human β-hexosaminidase. J Biol Chem 265:17921-17927, 1990.

Wiegant J, Galjart NJ, Raap AK, d'Azzo A. The gene encoding human protective protein (PPGB) is on chromosome 20. Genomics 10:345-349, 1991.

Morreau H, Bonten E, Zhou XY, d'Azzo A. Organization of the gene encoding human lysosomal β-galactosidase. DNA Cell Biol 10:495-504, 1991.

Zhou XY, Galjart NJ, Willemsen R, Gillemans N, Galjaard H, d'Azzo A. A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstable. EMBO J 10:4041-4048, 1991.

Galjart NJ, Morreau H, Willemsen R, Gillemans N, Bonten EJ, d'Azzo A. Human lysosomal protective protein has cathepsin A-like activity distinct from its protective function. J Biol Chem 266:14754-14762, 1991.

Morreau H, Galjart NJ, Willemsen R, Gillemans N, Zhou XY, d'Azzo A. Human lysosomal protective protein: Glycosylation, intracellular transport, and association with β-galactosidase in the endoplasmic reticulum. J Biol Chem 267:17949-17956, 1992.

Wiegant J, Wiesmeijer CC, Hoovers JMN, Schuuring E, d'Azzo A, Vrolijk J, Tanke HJ, Raap AK. Multiple and sensitive fluorescence in situ hybridization with rhodamine-, fluorescein-, and coumarin-labeled DNAs. Cytogenet Cell Genet 63:73-76, 1993.

Morrone A, Morreau H, Zhou XY, Zammarchi E, Kleijer WJ, Galjaard H, d'Azzo A. Insertion of a T next to the donor splice site of intron 1 causes aberrantly spliced mRNA in a case of infantile GM1-gangliosidosis. Hum Mut 3:112-120, 1994.

Rudenko G, Bonten E, d'Azzo A, Hol WGJ. Three-dimensional structure of the human "protective protein": Structure of the precursor form suggests a complex activation mechanism. Structure 3:1249-1259, 1995.

Zhou XY, Morreau H, Rottier R, Davis D, Bonten E, Wenger D, Grosveld FG, Doherty P, Suzuki K, Grosveld GC, d'Azzo A. Mouse model for the lysosomal disorder galactosialidosis and correction of the phenotype with overexpressing erythroid precursor cells. Genes Dev 9:2623-2634, 1995.

Bonten EJ, Galjart NJ, Willemsen R, Usmany M, Vlak JM, d'Azzo A. Lysosomal protective protein/cathepsin A: Role of the "linker" domain in catalytic activation. J Biol Chem 270:26441-26445, 1995.

Kleijer WJ, Geilen GC, Janse HC, van Diggelen OP, Zhou X-Y, Galjart NJ, Galjaard H, d'Azzo A. Cathepsin A deficiency in galactosialidosis: Studies of patients and carriers in 16 families. Ped Res 39:1067-1071, 1996.

Zammarchi E, Donati MA, Marrone A, Donzelli G, Zhou XY, d'Azzo A. Early infantile galactosialidosis: biochemical, and molecular observations in a new patient. Am J Med Genet 64:453-458, 1996.

Rudenko G, Bonten E, d'Azzo A, Hol WGJ. The crystal structure determination of the human protective protein: Two-fold averaging reveals the three-dimensional structure of a domain which was entirely absent in the initial model. Acta Cryst D 52:923-926, 1996.

Zhou X-Y, van der Spoel A, Rottier R, Hale G, Willemsen R, Berry GT, Strisciuglio P, Andria G, d'Azzo A. Molecular and biochemical analysis of protective protein/cathepsin A mutations: Correlation with clinical severity in galactosialidosis. Hum Mol Genet 5:1977-1987, 1996.

Bonten E, van der Spoel A, Fornerod M, Grosveld G, d'Azzo A. Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis. Genes Dev 10:3156-3169, 1996.

Hahn C, Martin M, Schroder M, Vanier M, Hara Y, Suzuki K, Suzuki K, d’Azzo A. Generalized CNS disease and massive Gm1-ganglioside accumulation in mice defective in lysosomal acid β-galactosidase. Hum Mol Genet 6:205-211, 1997.

Rottier R, d’Azzo A. Identification of the promoters for the human and murine protective protein/cathepsin A genes. DNA and Cell Biology 16:599-610, 1997.

Rottier R, Bonten E, d’Azzo A. A point mutation in the neu-1 locus causes the neuraminidase defect in the sm/j mouse. Hum Mol Genet 7(2):313-321, 1998.

Rudenko G, Bonten E, Hol WJG, d’Azzo A. The atomic model of the human protective protein/cathepsin A suggests a structural basis for galactosialidosis. PNAS 95:621-625, 1998.

van der Spoel A, Bonten E, d’Azzo A. Transport of human lysosomal neuraminidase to mature lysosomes requires protective protein/Cathepsin A. EMBO J 17(6):1588-1597, 1998.

Rottier RJ, Hahn CN, Mann LW, Martin MdP, Smeyne RJ, Suzuki K, d’Azzo A. Lack of PPCA expression only partially coincides with lysosomal storage in galactosialidosis mice: indirect evidence for spatial requirement of the catalytic rather than the protective function of PPCA. Hum Mol Genet 7(11):1787-1794, 1998.

Hahn CN, Martin MdP, Zhou X-Y, Mann LW, d’Azzo A. Correction of murine galactosialidosis by bone marrow-derived macrophages overexpressing human protective protein/cathepsin A under control of the colony-stimulating factor-1 receptor promoter. PNAS 95:14880-14885, 1998.

Silva CM, Severini MH, Sopelsa A, Coelho JC, Zaha A, d'Azzo A, Giugliani R. Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis. Hum Mutat 13:401-409, 1999.

Tai H-L, Fessing MY, Bonten EJ, Yanishevsky Y, d’Azzo A, Krynetski EY, Evans WE. Enhanced proteasomal degradation of mutant human thiopurine S-methyltransferase (TPMT) in mammalian cells: mechanism for TPMT protein deficience inherited by TPMT*2, TPMT*3A, TPMT*3B or TPMT*3C. Pharmacogenetics 9:641-650, 1999.

Morrone A, Bardelli T, Donati MA, Giorgi M, DiRocco M, Gatti R, Parini R, Ricci R, Taddeucci G, d’Azzo A, ZammarchiE. Beta galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement. Hum Mutat 15(4):354-366, 2000.

van der Spoel A, Bonten E, d’Azzo A. Processing of lysosomal beta-galactosidase. The C-terminal precursor fragment is an essential domain of the mature enzyme. J Biol Chem 275(4):10035-10040, 2000.

Bonten EJ, d’Azzo A. Lysosomal neuraminidase: catalytic activation in insect cells is controlled by the protective protein/cathepsin A. J Biol Chem 275(48):37657-37663, 2000.

Bonten EJ, Arts WF, Beck M, Covanis A, Donati A, Parini R, Zammarchi E, d’Azzo A. Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis. Hum Mol Genet 18:2715-2725, 2000.

Leimig T, Mann L, Martin MdP, Bonten E, Persons D, Knowles J, Allay JA, Cunningham J, Nienhuis AW, Smeyne R, d’Azzo A. Functional amelioration of murine galactosialidosis by genetically modified bone marrow hematopoietic stem cells. Blood 99:3169-3178, 2002.

de Geest N, Bonten E, Mann L, de Sousa-Hitzler J, Hahn C, d'Azzo A. Systemic and neurologic abnormalities distinguish the lysosomal disorders sialidosis and galactosialidosis in mice. Hum Mol Genet 11:1455-1464, 2002.

Cuervo AM, Mann L, Bonten E, d’Azzo A, Dice JF. Cathepsin A regulates chaperone-mediated autophagy through cleavage of the lysosomal receptor. EMBO J 22:47-59, 2003.

Groener JEM, Maaswinkel-Mooy P. Smit V, Claeys M, Bakker J, Campos Y, d’Azzo A. New mutations in two Dutch patients with early infantile galactosialidosis. Mol Genet and Metab 78:222-228, 2003.

Korah N, Smith CE, d’Azzo A, El-Alfy M, Hermo L. An increase in macrophages in the testis of cathepsin A deficient mice suggests an important role for these cells in the interstitial space of this tissue. Mol Reprod Dev 64(3):302-20, 2003.

Jeyakumar M, Thomas R, Elliott-Smith E, van der Spoel, A, d’Azzo A, Perry VH, Butters TD, Dwek RA, Platt FM. Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis. Brain 126 (Pt 4):974-87, 2003.

Caciotti A, Bardelli T, Cunningham J, d’Azzo A, Zammarchi E, Morrone A. Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type II GM1 gangliosidosis patient. Hum Genet 113:44-50, 2003.

Korah N, Smith CE, d’Azzo A, Mui J, Hermo L. Characterization of cell- and region-specific abnormalities in the epididymis of cathepsin A deficient mice. Mol Reprod Dev 66:358-73, 2003.

Nastasi T, Bongiovanni A, Mann L, Campos Y, Toy J, Bostram J, Rottier R, Hahn C, Conaway JW, Harris AJ, d’Azzo A. Ozz-E3, a muscle-specific ubiquitin ligase, regulates beta-catenin degradation during myogenesis. Developmental Cell, 6:269-282, 2004.

Bonten E, Wang D, Toy J, Mann L, Mignardot A, Yogalingam G, d’Azzo A. Targeting macrophages with baculovirus-produced lysosomal enzymes: implications for enzyme replacement therapy of the glycoprotein storage disorder galactosialidosis. FASEB 18:971-3, 2004.

Kasperzyk JL, El-Abbadi MM, Hauser EC, d’Azzo A, Platt FM, Seyfried TN. N-butyldeoxygalactono-jirimycin reduces neonatal brain ganglioside content in a mouse model of GM1 gangliosidosis. J Neurochem 89:645-53, 2004.

Malvagia S, Morrone, A, Caciotti A, Bardelli T, d’Azzo A, Ancora G, Zammarchi E, Donati MA. New mutations in the PPBG gene lead to loss of PPCA protein which affects the level of the beta-galactosidase/neuraminidase complex and the EBP-receptor. Mol Genet Metab 82:48-55, 2004.

d’Azzo A. Defects in lysosomal enzyme protection: Galactosialidosis. In Platt F, Walkley S, eds. Lysosomal Disorders of Brain. Oxford University Press, 170-185, 2004.

Tessitore A. Martin MdP, Sano R, Ma Y, Mann L, Ingrassia A, Sano R, MA Y, Leywell E, Steindler D, Hendershot LM, d’Azzo A. Gm1-ganglioside-mediated activation of the unfolded protein response causes neuronal death in a neurodegenerative gangliosidosis. Mol Cell 15:753-766, 2004.

Georgiou T, Drousiotou A, Campos Y, Caciotti A, Sztriha L, Gururaj A, Ozand P, Zammarchi E, Morrone A, d’Azzo A. Erratum: Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis. Hum Mutat 24:536-7, 2004

Hauser EC, Kasperzyk JL, d’Azzo A, Seyfried TN. Inheritance of lysosomal acid beta-galactosidase activity and gangliosides in crosses of DBA/2J and knockout mice. Biochem Genet 42:241-257, 2004.

Su M, Hu H, Lee Y, d’Azzo A. Messing A, Brenner M. Expression specificity of GFAP transgenes. Neurochem Res 29:2075-93, 2004.

d’Azzo A, Bongiovanni A, Nastasi T. E3 ubiquitin ligases as regulators of membrane protein trafficking and degradation. Traffic 6:429-41, 2005.

Caciotti A, Donati MA, Boneh A, d’Azzo A, Federico A, Parini R, Antuzzi D, Bardelli T, Nosi D, Kimonis V, Zammarchi E, Morrone A. Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis. Hum Mutat 25:285-92, 2005.

Kasperzyk J, d’Azzo A, Platt F, Alroy J, Seyfried TN. Substrate reduction reduces gangliosides in postnatal cerebrum-brainstem and cerebellum in GM1 gangliosidosis mice. J Lipid Res 46:744-51, 2005.

Gururaj A, Sztriha L, Hertecant J, Johansen JG, Giorgiou T, Campos Y, Drousiotou A, d’Azzo A. Magnetic resonance imaging findings and novel mutations in GM1 gangliosidosis. J Child Neurol 20:57-60, 2005.

Sano R, Trindade VM, Tessitore A, d’Azzo A, Vieira MB, Giugliani R, Coelho JC. G(M1)-ganglioside degradation and biosynthesis in human and murine G(M1)-gangliosidosis. Clin Chim Acta 354:131-9, 2005.

Wang D, Bonten EJ, Yogalingam F, Mann L, d’Azzo A. Short Term, High Dose Enzyme Replacement Therapy in Sialidosis Mice. Molecular Genetics and Metabolism 85:181-189, 2005.

Loren DJ, Campos Y, d'Azzo A, Wyble L, Grange DK, Gilbert-Barness E, White FV, Hamvas A. Sialidosis presenting as severe nonimmune fetal hydrops is associated with two novel mutations in lysosomal alpha-neuraminidase. J Perinatol 25:491-4, 2005.

Sano R, Tessitore A, Ingrassia A, d’Azzo A. Chemokine-induced recruitment of genetically modified hematopoietic cells into the CNS of GM1-gangliosidosis mice corrects neuronal pathology. Blood 106:2259-68, 2005.

Caciotti A, Donati MA, Bardelli T, d’Azzo A, Massai G, Luciani L, Zammarchi E, Morrone A. Primary and Secondary Elastin-Binding Protein Defect Leads to Impaired Elastogenesis in Fibroblasts from GM1-Gangliosidosis patients. Am J Pathol 167:1689-98, 2005.

Georgiou T, Stylianidou G, Anastasiadou V, Caciotti A, Campos Y, Zammarchi E, Morrone A, d’Azzo A, Drousiotou A. The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village. Genet Test 9:126-32, 2005.

Cardone M, Polita VA, Pepe S, Mann L, d’Azzo A, Auricchio A, Ballabio A, Cosma MP. Correction of Hunter syndrome in the MPSII mouse model by AAV2/8-mediated gene delivery. Hum Mol Genet 15:1225-36, 2006.

Caciotti A, Donati MA, Procopio E, Filocamo M, Kleijer W, Wuyts W, Blaumeiser B, d'Azzo A, Simi L, Orlando C, McKenzie F, Fiumara A, Zammarchi E, Morrone A. GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling. Hum Mutat 28:204, 2007.

Denny CA, Alroy J, Pawlyk BS, Sandberg MA, d’Azzo A, Seyfried TN. Neurochemical, morphological, and neurophysiological abnormalities in retinas of Sandhoff and GM1 gangliosidosis mice. J Neurochem 101:1294-302, 2007.

Hermo L, Korah N, Gregory M, Liu LY, Cyr DG, d’Azzo A, Smith CE. Structural alterations of epididymal epithelial cells in cathepsin A-deficient mice affect the blood epididymal barrier and lead to altered sperm motility. J Androl 28:784-797, 2007.

Elliot-Smith, E, Speak AO, Lloyd-Evans E, Smith DA, van der Spoel AC, Jeyakumar M, Butters TD, Dwek RA, d’Azzo A, Platt FM. Beneficial effects of substrate reduction therapy ina mouse model of GM1 gangliosidosis. Mol Genet Metab 94:204-211, 2008.

*Yogalingam G, *Bonten EJ, van de Vlekkert D, Hu H, Connell SA, Moshiach S, d’Azzo A. Neuraminidase 1 is a Negative Regulator of Lysosomal Exocytosis. Dev Cell 15:74-86, 2008. *Equal Contributors

Starcher B, d’Azzo A, Keller PW, Rao GK, Nadarajah D, Hinek A. Neuraminidase-1 is required for the normal assembly of elastic fibers. Am J Physiol Lung Cell Mol Physiol 295:L637-47, 2008.

Kiss A, Zen PR, Bittencourt V, Paskulin GA, Giugliani R, d’Azzo A, Schwartz IV. A Brazilian galactosialidosis patient given renal transplantation: A case report. J Inherit Metab Dis EPub ahead of print, October 21, 2008.

Caciotti A, Donati MA, d’Azzo A, Salvioli R, Guerrini R, Zammarchi E, Morrone A. The potential action of galactose as a “chemical chaperone”. Increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient. Eur J Paediatr Neurol 13:160-164, 2009.

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. Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients. J Neurol 256(11):1911-1915, 2009.

Wang D, Zaitsev S, Taylor G, d’Azzo A, Bonten E. Protective Protein/Cathepsin A rescues N-glycosylation defects in neuraminidase-1. BBA 1790: 275-282, 2009.

Zanoteli E, Vergani N, Campos Y, Vainzof M, Oliveira AS, d’Azzo A. Mitochondrial alterations in dynamin 2-related centronuclear myopathy. ARQUIVOS DE NEURO-PSIQUIATRIA 67:102-104, 2009.

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 oligomerizaion. J Biol Chem 284(41):28430-28441, 2009.

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 Ca2+-dependent mitochondrial apoptosis. Mol Cell 36(3):500-511, 2009.

Wu X, Steigelman KA, Bonten E, Hu H, He W, Ren T, Zuo J, d’Azzo A. Vacuolization and alterations of lysosomal membrane proteins in cochlear marginal cells contribute to hearing loss in neuraminidase 1-deficient mice. Biochim Biophys Acta 1802:259-268, 2009.

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 5(3):e9866, 2010.

Zanoteli E, de Vlekkert DV, 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 1802(1-2):659-672, 2010.

Stamatos NM, Carubelli I, van e Vlekkert D, Bonten EJ, Papini N, Feng C, Venerado B, d’Azzo A, Cross AS, Wang LX, Gomatos PJ. LPS-induced cytokine production in human dendritic cells is regulared by sialidase activity. J Leukoc Biol 88(6):1227-39, 2010. 

Baek RC, Broekman ML, Leroy SG, Tierney LA, Sandberg MA, d’Azzo A, Seyfried TN, Sena-Esteves M. AAV-mediated gene delivery in adult GM1-gangliosidosis mice corrects lysosomal storage in CNS and improves survival. PLoS One 5(10):1-16, 2010.

d’Azzo A, Bonten E. Molecular mechanisms of pathogenesis in a glycosphingolipid and a glycoprotein storage disease. Biochem Soc Trans 38 (6): 453-7, 2010.

Caciotti A, Garman SC, Rivera-Colon Y, Procopio E, Catarzi S, Ferri L, Guido C, Martelli P, Parini R, Antuzzi D, Battini R, Siblio 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. GM1 gagliosidosis and Morquio B disease: An update on genetic alterations and clinical findings. Biochim Biophys Acta Mol Basis Dis 1812(7):782-80, 2011.

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 20(2):267-74, 2012.

Bongiovanni A, Romancino DP, Campos Y, Paterniti G, Qiu X, Moshiach S, Di Felice V, Vergani N, Ustek D, d’Azzo A. Alix is a substrate of the Ozz-E3 ligase, and modulates actin remodeling in skeletal muscle. J Biol Chem 287(15): 12159-71, 2012.

Lehman A, Mattman A, Sin , Pare P, Zong Z, d’Azzo A, Campos Y, Sirrs S, Hinek A. Emphysema in an adult with galactosialidosis linked to a defect in primary elastic fiber assembly. Mol Genet Metab 106(1):99-103, 201, 2012.

Romancino DP, Anello L, Morici G. d’Azzo A, Bongiovanni A, Di Bernardo M. Identification and characterization of PIAIix, the Alix homologue from the Mediterranean sea urchin Paracentrotus lividus. Dev Growth Differ 2013 Jan. 10. doi: 10.111/dgd. 12023. [Epub ahead of print].

Invited Chapters, Reviews, and Symposium Articles

d'Azzo A, Monciotti C, Danesino C, Tira E, Stefanelli V. Normal levels of Arylsulfatase B in a patient with the symptoms of Maroteaux-Lamy syndrome. Proceedings Secondo Congresso Nazionale Societa Italiana per lo studio degli errori congeniti del metabolismo. San Remo. October, 1977.

d'Azzo A, Galjaard H. Genetic heterogeneity of metabolic disorders studied by somatic cell hybridization and in vitro studies of uptake of lysosomal enzymes. Proceedings of the Course: "Analisi genetiche prenatali." Erice. September, 1978.

d'Azzo A, Hoogeveen AT, de Wit-Verbeek HA. A microfractionation method for the analysis of hexosaminidase isoenzymes in small numbers of cultured cells. In: Murken JD, Stengel-Rutkowsky S, Schwinger E, eds. Proceedings of the Third European Conference on Prenatal Diagnosis of Genetic Disorders. Stuttgart: F Enke Publishers, pp 298-301, 1979.

d'Azzo A, Halley DJJ, Hoogeveen A, Galjaard H. Gene mutation in I-cell disease studied by somatic cell hybridization. Proceedings of the 5th International Workshop on Human Gene Mapping. Edinburgh. July, 1979.

Galjaard H, d'Azzo A, Hoogeveen AT, Konings A, Verheijen FW. Correction of genetic defects by somatic cell hybridization. Proceedings of the 2nd International Congress on Cell Biology. Berlin, September, 1980.

d'Azzo A, Galjaard H. Inherited metabolic disease: Diagnostic techniques. In: Candiani GB, Pardi G, Simoni G, d'Ambrioso F, eds. La Diagnosi prenatale dei difetti congeniti. Palermo: Cofese, pp 23-33, 1981.

Galjaard H, Hoogeveen AT, Verheijen FW, van Diggelen OP, Konings A, d'Azzo A, Reuser AJJ. Relationship between clinical, biochemical and genetic heterogeneity in sialidase deficiency. In: Tettamanti G, Durand P, Di Donato S, eds. Inherited metabolic diseases. Milan: Edi. Ermes, pp 317-333, 1981.

Sacchi N, Halley DJJ, d'Azzo A, Reuser AJJ, Galjaard H. The species and tissue specificity of the intracellular exchange of lysosomal enzymes. In: Tettamanti G, Durand P, Di Donato S, eds. Perspectives in inherited metabolic diseases. Milan: Edi. Ermes, pp 483-492, 1981.

Neufeld EF, d'Azzo A, Proia RL. Defective synthesis or maturation of the α-chain of β-hexosaminidase in classic and variant forms of Tay-Sachs disease. In: Barranger JA, Brady RO, eds. Molecular basis of storage disorders. New York: Academic Press, pp 251-257, 1984.

Galjaard H, d'Azzo A, Hoogeveen AT, Verheijen FW. Combined β-galactosidase-sialidase deficiency in man: Genetic defect of a protective protein. In: Barranger JA, Brady RO, eds. Molecular basis of storage disorders. New York: Academic Press, pp 113-133, 1984.

Galjaard H, Willemsen R, Hoogeveen AT, Mancini GMS, Palmeri S, Verheijen FW, d'Azzo A. Molecular heterogeneity in human β-galactosidase and neuraminidase deficiency. Enzyme 38:132-143, 1987.

d'Azzo A, Gillemans N, Galjart NJ. The complex of β-galactosidase, neuraminidase and "protective protein" in lysosomes: Molecular characterization of the "profective protein." In: Azzi A, Drahota Z, Papa S, eds. Berlin, Heidelberg: Springer-Verlag, pp 371-378, 1989.

d'Azzo A, Andria G, Strisciuglio P, Galjaard H. Galactosialidosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Basis of Inherited Disease, 8th Edition (Vol 3). New York: McGraw-Hill Publishing Co., pp 3811-3826, 2001.

Neufeld EF, d'Azzo A. Biosynthesis of normal and mutant beta-hexosaminidases. In Desnic RJ, Kaback MM, eds. Tay-Sachs Disease. Academic Press. Vol 44, 165-171, 2001.

d’Azzo A, Bonten E. Lysosomal Neuraminidase. In. Creighton TE, ed. Encyclopedia of Molecular Medicine. John Wiley & Sons, Inc. Vol 5, 2229-2234, 2002.

d’Azzo, A. Protective Protein Cathepsin A (PPCA). In Creighton TE, ed. Encyclopedia of Molecular Medicine. John Wiley & Sons, Inc. Vol 5, 2624-2628, 2002.

d’Azzo, A. Gene transfer strategies for correction of lysosomal storage disorders. Acta Hematologica. 110:71-85, 2003.

d’Azzo A. Defects in lysosomal enzyme protection: Galactosialidosis. In Platt F, Walkley S, eds. Lysosomal Disorders of Brain. Oxford University Press, 170-185, 2004.

d’Azzo A, Tessitore A, Sano R. Gangliosides as apoptotic signals in ER stress response. Cell Death Differ. 13:404-14, 2006.

d’Azzo A, Kolodny EH, Charria-Ortiz G, Bonten E, Annunziata I. Storage Disease of the Reticuloendothelial System in Nathan and Oski’s Hematology of Infancy and Childhood. 7th Ed. Orkin SH, Nathan DG, Ginsburg D, Lux SE, editors. 2008.

Monti E, Bonten E, D'Azzo A, Bresciani R, Venerando B, Borsani G, Schauer R, Tettamanti G. Sialidases in vertebrates: a family of enzymes tailored for several cell functions.  Adv Carbohydr Chem Biochem. 2010;64:403-79. Review.

d’Azzo A, Bonten E. Molecular mechanisms of pathogenesis in a glycosphingolipid and a glycoprotein storage disease. Biochem Soc Trans. 2010;38(6):1453-7.