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Alessandra d'Azzo

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Daniele P Romancino; Yvan Campos; Alessandra d'Azzo; Angela De Luca; Valentina Di Felice; Gaetano Paterniti; Antonella Bongiovanni
Identification and characterization of the nano-sized vesicles released by muscle cells.
Daniele P Romancino; Giovanni Morici; Letizia Anello; Antonella Bongiovanni; Alessandra d'Azzo; Maria Di Bernardo
Identification and characterization of PlAlix, the Alix homologue from the Mediterranean sea urchin Paracentrotus lividus.
Ida Annunziata; Annette Patterson; Alessandra d'Azzo
Mitochondria-associated ER membranes (MAMs) and glycosphingolipid enriched microdomains (GEMs): isolation from mouse brain.

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2013: Daniele P Romancino; Yvan Campos; Alessandra d'Azzo; Angela De Luca; Valentina Di Felice; Gaetano Paterniti; Antonella Bongiovanni
Identification and characterization of the nano-sized vesicles released by muscle cells.
FEBS letters 2013;587(9):1379-84.
2013: Daniele P Romancino; Giovanni Morici; Letizia Anello; Antonella Bongiovanni; Alessandra d'Azzo; Maria Di Bernardo
Identification and characterization of PlAlix, the Alix homologue from the Mediterranean sea urchin Paracentrotus lividus.
Development, growth & differentiation 2013;55(2):237-46.
2013: Ida Annunziata; Annette Patterson; Alessandra d'Azzo
Mitochondria-associated ER membranes (MAMs) and glycosphingolipid enriched microdomains (GEMs): isolation from mouse brain.
Journal of visualized experiments : JoVE 2013;(73):e50215.
2012: Anna Lehman; Andre Mattman; Peter Pare; Don Sin; Sandra M Sirrs; Zheyuan Zong; Yvan Campos; Alessandra d'Azzo; Aleksander Hinek
Emphysema in an adult with galactosialidosis linked to a defect in primary elastic fiber assembly.
Molecular genetics and metabolism 2012;106(1):99-103.
2012: Antonella Bongiovanni; Yvan Campos; Valentina Di Felice; Simon Moshiach; Gaetano Paterniti; Xiaohui Qiu; Daniele P Romancino; Duran ustek; Naja Vergani; Alessandra d'Azzo
Alix protein is substrate of Ozz-E3 ligase and modulates actin remodeling in skeletal muscle.
The Journal of biological chemistry 2012;287(15):12159-71.
2012: Huimin Hu; Arthur W Nienhuis; Jianrong Wu; Yanan Wu; Jim Allay; Erik J Bonten; Christopher Calabrese; Elida Gomero; John T Gray; Alessandra d'Azzo
Preclinical dose-finding study with a liver-tropic, recombinant AAV-2/8 vector in the mouse model of galactosialidosis.
Molecular therapy : the journal of the American Society of Gene Therapy 2012;20(2):267-74.
2010: Alessandra d'Azzo; Erik J Bonten
Molecular mechanisms of pathogenesis in a glycosphingolipid and a glycoprotein storage disease.
Biochemical Society transactions 2010;38(6):1453-7.
2010: Nicholas M Stamatos; Ivan Carubelli; Diantha van de Vlekkert; Erik J Bonten; Nadia Papini; Chiguang Feng; Bruno Venerando; Alessandra d'Azzo; Alan S Cross; Lai-Xi Wang; Peter J Gomatos
LPS-induced cytokine production in human dendritic cells is regulated by sialidase activity.
Journal of leukocyte biology 2010;88(6):1227-39.
2010: Edmar Zanoteli; Diantha van de Vlekkert; Erik J Bonten; Huimin Hu; Linda Mann; Elida M Gomero; A John Harris; Giulio Ghersi; Alessandra d'Azzo
Muscle degeneration in neuraminidase 1-deficient mice results from infiltration of the muscle fibers by expanded connective tissue.
Biochimica et biophysica acta 2010;1802(7-8):659-72.
2010: Xudong Wu; Katherine A Steigelman; Erik J Bonten; Huimin Hu; Wenxuan He; Tianying Ren; Jian Zuo; Alessandra d'Azzo
Vacuolization and alterations of lysosomal membrane proteins in cochlear marginal cells contribute to hearing loss in neuraminidase 1-deficient mice.
Biochimica et biophysica acta 2010;1802(2):259-68.
2010: Rena C Baek; Marike L D Broekman; Stanley G Leroy; Laryssa A Tierney; Michael A Sandberg; Alessandra d'Azzo; Thomas N Seyfried; Miguel Sena-Esteves
AAV-mediated gene delivery in adult GM1-gangliosidosis mice corrects lysosomal storage in CNS and improves survival.
PloS one 2010;5(10):e13468.
2010: Eugenio Monti; Erik Bonten; Alessandra d'Azzo; Roberto Bresciani; Bruno Venerando; Giuseppe Borsani; Roland Schauer; Guido Tettamanti
Sialidases in vertebrates: a family of enzymes tailored for several cell functions.
Advances in carbohydrate chemistry and biochemistry 2010;64():403-79.
2010: Yvan Campos; Xiaohui Qiu; Edmar Zanoteli; Simon Moshiach; Naja Vergani; Antonella Bongiovanni; A John Harris; Alessandra d'Azzo
Ozz-E3 ubiquitin ligase targets sarcomeric embryonic myosin heavy chain during muscle development.
PloS one 2010;5(3):e9866.
2009: Renata Sano; Ida Annunziata; Annette Patterson; Simon Moshiach; Elida Gomero; Joseph Opferman; Michael Forte; Alessandra d'Azzo
GM1-ganglioside accumulation at the mitochondria-associated ER membranes links ER stress to Ca(2+)-dependent mitochondrial apoptosis.
Molecular cell 2009;36(3):500-11.
2009: Erik J Bonten; Yvan Campos; Viateslav Zaitsev; Amanda Nourse; Brett Waddell; William Lewis; Garry Taylor; Alessandra d'Azzo
Heterodimerization of the sialidase NEU1 with the chaperone protective protein/cathepsin A prevents its premature oligomerization.
The Journal of biological chemistry 2009;284(41):28430-41.
2009: Dongning Wang; Slava Zaitsev; Garry Taylor; Alessandra d'Azzo; Erik J Bonten
Protective protein/cathepsin A rescues N-glycosylation defects in neuraminidase-1.
Biochimica et biophysica acta 2009;1790(4):275-82.
2009: Edmar Zanoteli; Naja Vergani; Yvan Campos; Mariz Vainzof; Acary S B Oliveira; Alessandra d'Azzo
Mitochondrial alterations in dynamin 2-related centronuclear myopathy.
Arquivos de neuro-psiquiatria 2009;67(1):102-4.
2009: Anna Caciotti; Maria Alice Donati; Alessandra d'Azzo; Rosa Salvioli; Renzo Guerrini; Enrico Zammarchi; Amelia Morrone
The potential action of galactose as a "chemical chaperone": increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2009;13(2):160-4.
2008: Barry Starcher; Alessandra d'Azzo; Patrick W Keller; Gottipati K Rao; Deepa Nadarajah; Alexsander Hinek
Neuraminidase-1 is required for the normal assembly of elastic fibers.
American journal of physiology. Lung cellular and molecular physiology 2008;295(4):L637-47.
2008: Gouri Yogalingam; Erik J Bonten; Diantha van de Vlekkert; Huimin Hu; Simon Moshiach; Samuel A Connell; Alessandra d'Azzo
Neuraminidase 1 is a negative regulator of lysosomal exocytosis.
Developmental cell 2008;15(1):74-86.
2008: Elena Elliot-Smith; Anneliese O Speak; Emyr Lloyd-Evans; David A Smith; Aarnoud C van der Spoel; Mylvaganam Jeyakumar; Terry D Butters; Raymond A Dwek; Alessandra d'Azzo; Frances M Platt
Beneficial effects of substrate reduction therapy in a mouse model of GM1 gangliosidosis.
Molecular genetics and metabolism 2008;94(2):204-11.
2007: Louis Hermo; Nadine Korah; Mary Gregory; Lauren Ye Liu; Daniel G Cyr; Alessandra d'Azzo; Charles E Smith
Structural alterations of epididymal epithelial cells in cathepsin A-deficient mice affect the blood-epididymal barrier and lead to altered sperm motility.
Journal of andrology 2007;28(5):784-97.
2007: Christine A Denny; Joseph Alroy; Basil Pawlyk; Michael A Sandberg; Alessandra d'Azzo; Thomas N Seyfried
Neurochemical, morphological, and neurophysiological abnormalities in retinas of Sandhoff and GM1 gangliosidosis mice.
Journal of neurochemistry 2007;101(5):1294-302.
2007: Anna Caciotti; Maria Alice Donati; Elena Procopio; Mirella Filocamo; Wim J Kleijer; Wim Wuyts; Bettina Blaumeiser; Alessandra d'Azzo; Lisa Simi; Claudio Orlando; Fiona McKenzie; Agata Fiumara; Enrico Zammarchi; Amelia Morrone
GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling.
Human mutation 2007;28(2):204.
2006: Monica Cardone; Vinicia Assunta Polito; Stefano Pepe; Linda Mann; Alessandra d'Azzo; Alberto Auricchio; Andrea Ballabio; Maria Pia Cosma
Correction of Hunter syndrome in the MPSII mouse model by AAV2/8-mediated gene delivery.
Human molecular genetics 2006;15(7):1225-36.
2006: Alessandra d'Azzo; Alessandra Tessitore; Renata Sano
Gangliosides as apoptotic signals in ER stress response.
Cell death and differentiation 2006;13(3):404-14.
2005: Anna Caciotti; Maria Alice Donati; Tiziana Bardelli; Alessandra d'Azzo; Graziella Massai; Luciana Luciani; Enrico Zammarchi; Amelia Morrone
Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients.
The American journal of pathology 2005;167(6):1689-98.
2005: Renata Sano; Alessandra Tessitore; Angela Ingrassia; Alessandra d'Azzo
Chemokine-induced recruitment of genetically modified bone marrow cells into the CNS of GM1-gangliosidosis mice corrects neuronal pathology.
Blood 2005;106(7):2259-68.
2005: Dongning Wang; Erik J Bonten; Gouri Yogalingam; Linda Mann; Alessandra d'Azzo
Short-term, high dose enzyme replacement therapy in sialidosis mice.
Molecular genetics and metabolism 2005;85(3):181-9.
2005: David J Loren; Yvan Campos; Alessandra d'Azzo; Lance Wyble; Dorothy K Grange; Enid Gilbert-Barness; Frances V White; Aaron Hamvas
Sialidosis presenting as severe nonimmune fetal hydrops is associated with two novel mutations in lysosomal alpha-neuraminidase.
Journal of perinatology : official journal of the California Perinatal Association 2005;25(7):491-4.
2005: Alessandra d'Azzo; antonella bongiovanni; Tommaso Nastasi
E3 ubiquitin ligases as regulators of membrane protein trafficking and degradation.
Traffic (Copenhagen, Denmark) 2005;6(6):429-41.
2005: Renata Sano; Vera M T Trindade; Alessandra Tessitore; Alessandra d'Azzo; Matheus B Vieira; Roberto Giugliani; Janice C Coelho
G(M1)-ganglioside degradation and biosynthesis in human and murine G(M1)-gangliosidosis.
Clinica chimica acta; international journal of clinical chemistry 2005;354(1-2):131-9.
2005: Julie L Kasperzyk; Alessandra d'Azzo; Frances M Platt; J Alroy; Thomas N Seyfried
Substrate reduction reduces gangliosides in postnatal cerebrum-brainstem and cerebellum in GM1 gangliosidosis mice.
Journal of lipid research 2005;46(4):744-51.
2005: Anna Caciotti; Maria Alice Donati; Avihu Boneh; Alessandra d'Azzo; Antonio Federico; Rossella Parini; Daniela Antuzzi; Tiziana Bardelli; Daniele Nosi; Virginia E Kimonis; Enrico Zammarchi; Amelia Morrone
Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis.
Human mutation 2005;25(3):285-92.
2005: Theodoros Georgiou; Goula Stylianidou; Violetta Anastasiadou; Anna Caciotti; Yvan Campos; Enrico Zammarchi; Amelia Morrone; Alessandra d'Azzo; Anthi Drousiotou
The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village.
Genetic testing 2005;9(2):126-32.
2005: Gururaj Aithala; László Sztriha; Joseph Hertecant; Johan G Johansen; Theodoros Georgiou; Yvan Campos; Anthi Drousiotou; Alessandra d'Azzo
Magnetic resonance imaging findings and novel mutations in GM1 gangliosidosis.
Journal of child neurology 2005;20(1):57-60.
2004: Mu Su; Huimin Hu; Youngjin Lee; Alessandra d'Azzo; Albee Messing; Michael Brenner
Expression specificity of GFAP transgenes.
Neurochemical research 2004;29(11):2075-93.
2004: Theodoros Georgiou; Anthi Drousiotou; Yvan Campos; Anna Caciotti; László Sztriha; Gururaj Aithala; P Ozand; Enrico Zammarchi; Amelia Morrone; Alessandra d'Azzo
Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis.
Human mutation 2004;24(4):352.
2004: Alessandra Tessitore; Maria del P Martin; Renata Sano; Yanjun Ma; Linda Mann; Angela Ingrassia; Eric D Laywell; Dennis A Steindler; Linda M Hendershot; Alessandra d'Azzo
GM1-ganglioside-mediated activation of the unfolded protein response causes neuronal death in a neurodegenerative gangliosidosis.
Molecular cell 2004;15(5):753-66.
2004: Eric C Hauser; Julie L Kasperzyk; Alessandra d'Azzo; Thomas N Seyfried
Inheritance of lysosomal acid beta-galactosidase activity and gangliosides in crosses of DBA/2J and knockout mice.
Biochemical genetics 2004;42(7-8):241-57.
2004: Erik J Bonten; Dongning Wang; James N Toy; Linda Mann; Aurélie Mignardot; Gouri Yogalingam; Alessandra d'Azzo
Targeting macrophages with baculovirus-produced lysosomal enzymes: implications for enzyme replacement therapy of the glycoprotein storage disorder galactosialidosis.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2004;18(9):971-3.
2004: Sabrina Malvagia; Amelia Morrone; Anna Caciotti; Tiziana Bardelli; Alessandra d'Azzo; Gina Ancora; Enrico Zammarchi; Maria Alice Donati
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.
Molecular genetics and metabolism 2004;82(1):48-55.
2004: Julie L Kasperzyk; Mohga M El-Abbadi; Eric C Hauser; Alessandra d'Azzo; Frances M Platt; Thomas N Seyfried
N-butyldeoxygalactonojirimycin reduces neonatal brain ganglioside content in a mouse model of GM1 gangliosidosis.
Journal of neurochemistry 2004;89(3):645-53.
2004: Tommaso Nastasi; antonella bongiovanni; Yvan Campos; Linda Mann; James N Toy; Jake Bostrom; Robbert Rottier; Chris Hahn; Joan Weliky Conaway; A John Harris; Alessandra d'Azzo
Ozz-E3, a muscle-specific ubiquitin ligase, regulates beta-catenin degradation during myogenesis.
Developmental cell 2004;6(2):269-82.
2003: Nadine Korah; Charles E Smith; Alessandra d'Azzo; Jeannie Mui; Louis Hermo
Characterization of cell- and region-specific abnormalities in the epididymis of cathepsin A deficient mice.
Molecular reproduction and development 2003;66(4):358-73.
2003: Anna Caciotti; Tiziana Bardelli; John Cunningham; Alessandra d'Azzo; Enrico Zammarchi; Amelia Morrone
Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.
Human genetics 2003;113(1):44-50.
2003: Mylvaganam Jeyakumar; R Thomas; E Elliot-Smith; D A Smith; Aarnoud C van der Spoel; Alessandra d'Azzo; V Hugh Perry; Terry D Butters; Raymond A Dwek; Frances M Platt
Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis.
Brain : a journal of neurology 2003;126(Pt 4):974-87.
2003: Nadine Korah; Charles E Smith; Alessandra d'Azzo; Mohamed El-Alfy; Louis Hermo
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.
Molecular reproduction and development 2003;64(3):302-20.
2003: Ana Maria Cuervo; Linda Mann; Erik J Bonten; Alessandra d'Azzo; J Fred Dice
Cathepsin A regulates chaperone-mediated autophagy through cleavage of the lysosomal receptor.
The EMBO journal 2003;22(1):47-59.
2003: Alessandra d'Azzo
Gene transfer strategies for correction of lysosomal storage disorders.
Acta haematologica 2003;110(2-3):71-85.
2002: Natalie de Geest; Erik J Bonten; Linda Mann; Jean de Sousa-Hitzler; Chris Hahn; Alessandra d'Azzo
Systemic and neurologic abnormalities distinguish the lysosomal disorders sialidosis and galactosialidosis in mice.
Human molecular genetics 2002;11(12):1455-64.
2002: Thasia Leimig; Linda Mann; Maria del Pilar Martin; Erik J Bonten; Derek A Persons; James Knowles; James A Allay; John Cunningham; Arthur W Nienhuis; Richard Smeyne; Alessandra d'Azzo
Functional amelioration of murine galactosialidosis by genetically modified bone marrow hematopoietic progenitor cells.
Blood 2002;99(9):3169-78.
2000: Erik J Bonten; Alessandra d'Azzo
Lysosomal neuraminidase. Catalytic activation in insect cells is controlled by the protective protein/cathepsin A.
The Journal of biological chemistry 2000;275(48):37657-63.
2000: Erik J Bonten; W F Arts; M Beck; A Covanis; Maria Alice Donati; Rossella Parini; Enrico Zammarchi; Alessandra d'Azzo
Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis.
Human molecular genetics 2000;9(18):2715-25.
2000: Aarnoud C van der Spoel; Erik J Bonten; Alessandra d'Azzo
Processing of lysosomal beta-galactosidase. The C-terminal precursor fragment is an essential domain of the mature enzyme.
The Journal of biological chemistry 2000;275(14):10035-40.
2000: Amelia Morrone; Tiziana Bardelli; Maria Alice Donati; M Giorgi; Maja Di Rocco; R Gatti; Rossella Parini; Roberta Ricci; G Taddeucci; Alessandra d'Azzo; Enrico Zammarchi
beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.
Human mutation 2000;15(4):354-66.
1999: HL Tai; Michael Fessing; Erik J Bonten; Y Yanishevsky; Alessandra d'Azzo; Eugene Y Krynetski; William Evans
Enhanced proteasomal degradation of mutant human thiopurine S-methyltransferase (TPMT) in mammalian cells: mechanism for TPMT protein deficiency inherited by TPMT*2, TPMT*3A, TPMT*3B or TPMT*3C.
Pharmacogenetics 1999;9(5):641-50.
1998: Chris Hahn; M del Pilar Martin; X Y Zhou; Linda Mann; Alessandra d'Azzo
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.
Proceedings of the National Academy of Sciences of the United States of America 1998;95(25):14880-5.
1998: Robbert Rottier; Chris Hahn; Linda Mann; M del Pilar Martin; Richard Smeyne; K Suzuki; Alessandra d'Azzo
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.
Human molecular genetics 1998;7(11):1787-94.
1998: Aarnoud C van der Spoel; Erik J Bonten; Alessandra d'Azzo
Transport of human lysosomal neuraminidase to mature lysosomes requires protective protein/cathepsin A.
The EMBO journal 1998;17(6):1588-97.
1998: Robbert Rottier; Erik J Bonten; Alessandra d'Azzo
A point mutation in the neu-1 locus causes the neuraminidase defect in the SM/J mouse.
Human molecular genetics 1998;7(2):313-21.
1998: Gabby Rudenko; Erik J Bonten; Wim G J Hol; Alessandra d'Azzo
The atomic model of the human protective protein/cathepsin A suggests a structural basis for galactosialidosis.
Proceedings of the National Academy of Sciences of the United States of America 1998;95(2):621-5.
1997: Robbert Rottier; Alessandra d'Azzo
Identification of the promoters for the human and murine protective protein/cathepsin A genes.
DNA and cell biology 1997;16(5):599-610.
1997: Chris Hahn; M del Pilar Martin; M Schröder; marie T vanier; Y Hara; K Suzuki; K Suzuki; Alessandra d'Azzo
Generalized CNS disease and massive GM1-ganglioside accumulation in mice defective in lysosomal acid beta-galactosidase.
Human molecular genetics 1997;6(2):205-11.
1996: Erik J Bonten; A van der Spoel; Maarten Fornerod; Gerard C Grosveld; Alessandra d'Azzo
Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis.
Genes & development 1996;10(24):3156-69.
1996: X Y Zhou; A van der Spoel; Robbert Rottier; G Hale; R Willemsen; G T Berry; Pietro Strisciuglio; A Morrone; Enrico Zammarchi; generoso andria; Alessandra d'Azzo
Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.
Human molecular genetics 1996;5(12):1977-87.
1996: Gabby Rudenko; Erik J Bonten; Alessandra d'Azzo; Wim G J Hol
Structure determination of the human protective protein: twofold averaging reveals the three-dimensional structure of a domain which was entirely absent in the initial model.
Acta crystallographica. Section D, Biological crystallography 1996;52(Pt 5):923-36.
1996: Enrico Zammarchi; Maria Alice Donati; A Morrone; Gianpaolo Donzelli; X Y Zhou; Alessandra d'Azzo
Early-infantile galactosialidosis: clinical, biochemical, and molecular observations in a new patient.
American journal of medical genetics 1996;64(3):453-8.
1996: Wim J Kleijer; Gerard Geilen; H C Janse; Otto P van Diggelen; X Y Zhou; Niels Galjart; H Galjaard; Alessandra d'Azzo
Cathepsin A deficiency in galactosialidosis: studies of patients and carriers in 16 families.
Pediatric research 1996;39(6):1067-71.
1995: Gabby Rudenko; Erik J Bonten; Alessandra d'Azzo; Wim G J Hol
Three-dimensional structure of the human 'protective protein': structure of the precursor form suggests a complex activation mechanism.
Structure (London, England : 1993) 1995;3(11):1249-59.
1995: Erik J Bonten; Niels Galjart; Rob Willemsen; M Usmany; Just M Vlak; Alessandra d'Azzo
Lysosomal protective protein/cathepsin A. Role of the "linker" domain in catalytic activation.
The Journal of biological chemistry 1995;270(44):26441-5.
1994: A Morrone; Hans Morreau; X Y Zhou; Enrico Zammarchi; Wim J Kleijer; H Galjaard; Alessandra d'Azzo
Insertion of a T next to the donor splice site of intron 1 causes aberrantly spliced mRNA in a case of infantile GM1-gangliosidosis.
Human mutation 1994;3(2):112-20.
1993: Joop Wiegant; C C Wiesmeijer; J M Hoovers; E Schuuring; Alessandra d'Azzo; J Vrolijk; Hans J Tanke; Anton K Raap
Multiple and sensitive fluorescence in situ hybridization with rhodamine-, fluorescein-, and coumarin-labeled DNAs.
Cytogenetics and cell genetics 1993;63(1):73-6.
1992: Hans Morreau; Niels Galjart; Rob Willemsen; Nynke Gillemans; X Y Zhou; Alessandra d'Azzo
Human lysosomal protective protein. Glycosylation, intracellular transport, and association with beta-galactosidase in the endoplasmic reticulum.
The Journal of biological chemistry 1992;267(25):17949-56.
1991: X Y Zhou; Niels Galjart; Rob Willemsen; Nynke Gillemans; H Galjaard; Alessandra d'Azzo
A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstable.
The EMBO journal 1991;10(13):4041-8.
1991: Hans Morreau; Erik J Bonten; X Y Zhou; Alessandra d'Azzo
Organization of the gene encoding human lysosomal beta-galactosidase.
DNA and cell biology 1991;10(7):495-504.
1991: Niels Galjart; Hans Morreau; Rob Willemsen; Nynke Gillemans; Erik J Bonten; Alessandra d'Azzo
Human lysosomal protective protein has cathepsin A-like activity distinct from its protective function.
The Journal of biological chemistry 1991;266(22):14754-62.
1991: Joop Wiegant; Niels Galjart; Anton K Raap; Alessandra d'Azzo
The gene encoding human protective protein (PPGB) is on chromosome 20.
Genomics 1991;10(2):345-9.
1990: Niels Galjart; Nynke Gillemans; Dies Meijer; Alessandra d'Azzo
Mouse "protective protein". cDNA cloning, sequence comparison, and expression.
The Journal of biological chemistry 1990;265(8):4678-84.
1989: Hans Morreau; Niels Galjart; Nynke Gillemans; Rob Willemsen; Gijsbertus T J van der Horst; Alessandra d'Azzo
Alternative splicing of beta-galactosidase mRNA generates the classic lysosomal enzyme and a beta-galactosidase-related protein.
The Journal of biological chemistry 1989;264(34):20655-63.
1989: Gijsbertus T J van der Horst; Niels Galjart; Alessandra d'Azzo; H Galjaard; Frans W Verheijen
Identification and in vitro reconstitution of lysosomal neuraminidase from human placenta.
The Journal of biological chemistry 1989;264(2):1317-22.
1988: Pietro Strisciuglio; Giancarlo Parenti; C Giudice; S Lijoi; André Hoogeveen; Alessandra d'Azzo
The presence of a reduced amount of 32-kd "protective" protein is a distinct biochemical finding in late infantile galactosialidosis.
Human genetics 1988;80(3):304-6.
1988: Niels Galjart; Nynke Gillemans; A Harris; Gijsbertus T J van der Horst; Frans W Verheijen; H Galjaard; Alessandra d'Azzo
Expression of cDNA encoding the human "protective protein" associated with lysosomal beta-galactosidase and neuraminidase: homology to yeast proteases.
Cell 1988;54(6):755-64.
1987: H Galjaard; Rob Willemsen; André Hoogeveen; Grazia M S Mancini; S Palmeri; Frans W Verheijen; Alessandra d'Azzo
Molecular heterogeneity in human beta-galactosidase and neuraminidase deficiency.
Enzyme 1987;38(1-4):132-43.
1984: André Hoogeveen; H Graham-Kawashima; Alessandra d'Azzo; H Galjaard
Processing of human beta-galactosidase in GM1-gangliosidosis and Morquio B syndrome.
The Journal of biological chemistry 1984;259(3):1974-7.
1980: André Hoogeveen; Frans W Verheijen; Alessandra d'Azzo; H Galjaard
Genetic heterogeneity in human neuraminidase deficiency.
Nature 1980;285(5765):500-2.