Antonella Forlino

Summary

Affiliation: University of Pavia
Country: Italy

Publications

  1. ncbi request reprint Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts
    Antonella Forlino
    Dipartimento di Biochimica A Castellani, University of Pavia, Via Taramelli 3 B, 27100 Pavia, Italy
    Hum Genet 111:314-22. 2002
  2. ncbi request reprint Differential expression of both extracellular and intracellular proteins is involved in the lethal or nonlethal phenotypic variation of BrtlIV, a murine model for osteogenesis imperfecta
    Antonella Forlino
    Department of Biochemistry A Castellani, Section of Medicine and Pharmacy, University of Pavia, Pavia, Italy
    Proteomics 7:1877-91. 2007
  3. ncbi request reprint Selective retention and degradation of molecules with a single mutant alpha1(I) chain in the Brtl IV mouse model of OI
    Antonella Forlino
    Department of Biochemistry A Castellani, University of Pavia, via Taramelli 3b, 27100 Pavia, Italy
    Matrix Biol 26:604-14. 2007
  4. ncbi request reprint N-benzyloxycarbonyl-L-proline: an in vitro and in vivo inhibitor of prolidase
    Anna Lupi
    Department of Biochemistry A Castellani, Section of Medicine and Pharmacy, University of Pavia, Italy
    Biochim Biophys Acta 1744:157-63. 2005
  5. doi request reprint A Mn(II)-Mn(II) center in human prolidase
    Roberta Besio
    Department of Molecular Medicine, Section of Biochemistry, University of Pavia, via Taramelli 3 b 27100 Pavia, Italy
    Biochim Biophys Acta 1834:197-204. 2013
  6. ncbi request reprint Characterization of a new PEPD allele causing prolidase deficiency in two unrelated patients: natural-occurrent mutations as a tool to investigate structure-function relationship
    Anna Lupi
    Department of Biochemistry, Section of Medicine and Pharmacology, University of Pavia, Pavia, Italy
    J Hum Genet 49:500-6. 2004
  7. ncbi request reprint Human recombinant prolidase from eukaryotic and prokaryotic sources. Expression, purification, characterization and long-term stability studies
    Anna Lupi
    Department of Biochemistry Alessandro Castellani, University of Pavia, Italy
    FEBS J 273:5466-78. 2006
  8. doi request reprint Defective proteoglycan sulfation of the growth plate zones causes reduced chondrocyte proliferation via an altered Indian hedgehog signalling
    Benedetta Gualeni
    Department of Biochemistry Alessandro Castellani, University of Pavia, Pavia, Italy
    Matrix Biol 29:453-60. 2010
  9. pmc Alteration of proteoglycan sulfation affects bone growth and remodeling
    Benedetta Gualeni
    Department of Molecular Medicine, Section of Biochemistry, University of Pavia, Pavia, Italy
    Bone 54:83-91. 2013
  10. pmc Kinetic and structural evidences on human prolidase pathological mutants suggest strategies for enzyme functional rescue
    Roberta Besio
    Department of Molecular Medicine, Biochemistry Unit, University of Pavia, Pavia, Italy
    PLoS ONE 8:e58792. 2013

Collaborators

  • Antonio Rossi
  • Ruggero Tenni
  • Valerie Geoffroy
  • Nadia Zaffaroni
  • Marco Franchi
  • Anna Villa
  • Giampaolo Merlini
  • Antonia Icaro Cornaglia
  • Manuela Viola
  • Nicoletta Resta
  • Ida Pucci-Minafra
  • MICHAEL DAVID MORRIS
  • F H Glorieux
  • Roberta Besio
  • Anna Lupi
  • Roberta Gioia
  • Benedetta Gualeni
  • Giuseppe Cetta
  • Joan C Marini
  • Vincenzo Giansanti
  • Enrico Monzani
  • Stefania Nicolis
  • Luigi Casella
  • Fabio Pecora
  • Antonella Profumo
  • Wayne A Cabral
  • Lucia Cucca
  • Fabio De Leonardis
  • Sara Della Torre
  • Annalisa Vetro
  • Andrea Superti-Furga
  • Christopher A Wassif
  • Elena Campari
  • Jarmo Korkko
  • Hugo N Cabrera
  • Kenneth M Kozloff
  • Natalia V Kuznetsova
  • Federica Cossu
  • Anna Ivana Scovassi
  • Caroline Marty-Morieux
  • Riccardo Basosi
  • Maria Camilla Baratto
  • Luca Monti
  • Marie Christine de Vernejoul
  • Pascal Houillier
  • Michelle Savoldelli
  • Giuliano Mazzini
  • Martino Bolognesi
  • Alicia Torriglia
  • Gloria E Villalpando Rodriguez
  • Marzia Pennati
  • Paolo Vezzoni
  • Simona Villani
  • Giovanni Palladini
  • Isabella Villa
  • Cristina Panaroni
  • Ivana A Scovassi
  • Roberto Giorda
  • Orsetta Zuffardi
  • Roberto Ciccone
  • Maria Grazia Patricelli
  • Erika Della Mina
  • Marcella Facchini
  • Alberto Passi
  • Velia Minicozzi
  • Carlo Meneghini
  • Francesco Stellato
  • Silvia Morante
  • Stefania Alleva
  • Forbes D Porter
  • Darwin J Prockop
  • Anne De Paepe
  • Sarah Milgrom
  • Matthew F Starost
  • Aileen M Barnes
  • Loredana Marchese
  • Christine Kuslich
  • James Troendle
  • Heini Hartikka
  • Paul Coucke
  • Allison L Sterner
  • Peter J Roughley
  • Raymond Dalgleish
  • Daniel H Cohn
  • Deborah Krakow
  • Kaija Kuurila-Svahn
  • Kirstyn E Brownson
  • Alan M Lund
  • Peter H Byers
  • William K Wilson

Detail Information

Publications28

  1. ncbi request reprint Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts
    Antonella Forlino
    Dipartimento di Biochimica A Castellani, University of Pavia, Via Taramelli 3 B, 27100 Pavia, Italy
    Hum Genet 111:314-22. 2002
    ..Our results provide the first evidence that absence of prolidase activity causes the activation of a necrosis-like cellular death, which could be responsible for the typical skin lesions in PD...
  2. ncbi request reprint Differential expression of both extracellular and intracellular proteins is involved in the lethal or nonlethal phenotypic variation of BrtlIV, a murine model for osteogenesis imperfecta
    Antonella Forlino
    Department of Biochemistry A Castellani, Section of Medicine and Pharmacy, University of Pavia, Pavia, Italy
    Proteomics 7:1877-91. 2007
    ..The first reference 2-DE map for murine calvarial tissue is also reported...
  3. ncbi request reprint Selective retention and degradation of molecules with a single mutant alpha1(I) chain in the Brtl IV mouse model of OI
    Antonella Forlino
    Department of Biochemistry A Castellani, University of Pavia, via Taramelli 3b, 27100 Pavia, Italy
    Matrix Biol 26:604-14. 2007
    ..Based on these and our previous findings, we argue that the outcome in Brtl IV may be significantly affected by cellular stress and malfunction caused by the retention and degradation of newly synthesized mutant collagen...
  4. ncbi request reprint N-benzyloxycarbonyl-L-proline: an in vitro and in vivo inhibitor of prolidase
    Anna Lupi
    Department of Biochemistry A Castellani, Section of Medicine and Pharmacy, University of Pavia, Italy
    Biochim Biophys Acta 1744:157-63. 2005
    ..Our results demonstrated that Cbz-Pro is a potent inhibitor of prolidase in cultured fibroblasts and it can be used in vivo to better characterize the prolidase enzyme and further investigate PD physiopathology...
  5. doi request reprint A Mn(II)-Mn(II) center in human prolidase
    Roberta Besio
    Department of Molecular Medicine, Section of Biochemistry, University of Pavia, via Taramelli 3 b 27100 Pavia, Italy
    Biochim Biophys Acta 1834:197-204. 2013
    ....
  6. ncbi request reprint Characterization of a new PEPD allele causing prolidase deficiency in two unrelated patients: natural-occurrent mutations as a tool to investigate structure-function relationship
    Anna Lupi
    Department of Biochemistry, Section of Medicine and Pharmacology, University of Pavia, Pavia, Italy
    J Hum Genet 49:500-6. 2004
    ..coli methionine aminopeptidase. Taking into account the effects of the described mutations on stability and activity of the enzyme, we propose the identification of three different functional regions...
  7. ncbi request reprint Human recombinant prolidase from eukaryotic and prokaryotic sources. Expression, purification, characterization and long-term stability studies
    Anna Lupi
    Department of Biochemistry Alessandro Castellani, University of Pavia, Italy
    FEBS J 273:5466-78. 2006
    ..Generation of the prolidase in Escherichia coli, because of its high yield, stability, and similarity to native prolidase, appears to be the best approach for future structural studies and enzyme replacement therapy...
  8. doi request reprint Defective proteoglycan sulfation of the growth plate zones causes reduced chondrocyte proliferation via an altered Indian hedgehog signalling
    Benedetta Gualeni
    Department of Biochemistry Alessandro Castellani, University of Pavia, Pavia, Italy
    Matrix Biol 29:453-60. 2010
    ..These data suggest that in dtd mice proteoglycan undersulfation causes reduced chondrocyte proliferation in the proliferative zone via the Indian hedgehog pathway, therefore contributing to reduced long bone growth...
  9. pmc Alteration of proteoglycan sulfation affects bone growth and remodeling
    Benedetta Gualeni
    Department of Molecular Medicine, Section of Biochemistry, University of Pavia, Pavia, Italy
    Bone 54:83-91. 2013
    ....
  10. pmc Kinetic and structural evidences on human prolidase pathological mutants suggest strategies for enzyme functional rescue
    Roberta Besio
    Department of Molecular Medicine, Biochemistry Unit, University of Pavia, Pavia, Italy
    PLoS ONE 8:e58792. 2013
    ..Based on the above considerations we were able to rescue part of the prolidase activity in patients' fibroblasts through the induction of Heath Shock Proteins expression, hinting at new promising avenues for PD treatment...
  11. ncbi request reprint A quantitative and qualitative method for direct 2-DE analysis of murine cartilage
    Fabio Pecora
    Dipartimento di Biochimica Alessandro Castellani, Universita di Pavia, Pavia, Italy
    Proteomics 7:4003-7. 2007
    ..Thus, we have developed a 2-DE method including passive rehydration loading that does not require sample pretreatment and allows direct protein expression studies in cartilage samples...
  12. pmc Impaired osteoblastogenesis in a murine model of dominant osteogenesis imperfecta: a new target for osteogenesis imperfecta pharmacological therapy
    Roberta Gioia
    Department of Molecular Medicine, Section of Biochemistry, University of Pavia, Via Taramelli 3 B, Pavia, Italy
    Stem Cells 30:1465-76. 2012
    ..This is the first report of impaired MSC differentiation to osteoblasts in OI, and it identifies a new potential target for the pharmacological treatment of the disorder...
  13. doi request reprint Improved prolidase activity assay allowed enzyme kinetic characterization and faster prolidase deficiency diagnosis
    Roberta Besio
    Department of Biochemistry, University of Pavia, Italy
    Clin Chim Acta 412:1814-20. 2011
    ..Therefore, standardized and accurate measurement of prolidase activity is essential for PD diagnosis, as well as to elucidate the pathophysiology of other disorders...
  14. pmc In vivo contribution of amino acid sulfur to cartilage proteoglycan sulfation
    Fabio Pecora
    Dipartimento di Biochimica Alessandro Castellani, Universita di Pavia, Via Taramelli 3 B, I 27100 Pavia, Italy
    Biochem J 398:509-14. 2006
    ....
  15. ncbi request reprint Optimization of a capillary electrophoretic method to detect and quantify the Gly-Pro dipeptide in complex matrices from long term cultured prolidase deficiency fibroblasts
    Anna Lupi
    Dipartimento di Biochimica A Castellani, University of Pavia, 27100 Pavia, Italy
    J Chromatogr B Analyt Technol Biomed Life Sci 795:133-9. 2003
    ..The optimized method was applied to real samples and revealed a significant increase of intracellular Gly-Pro dipeptide in prolidase deficiency fibroblasts with respect to the control...
  16. doi request reprint Identifying the structure of the active sites of human recombinant prolidase
    Roberta Besio
    Dipartimento di Biochimica, Sezione Medicina e Farmacia, Universita di Pavia, Pavia, Italy
    Eur Biophys J 39:935-45. 2010
    ..In both dinuclear units a histidine residue is bound to a Zn ion...
  17. pmc XX males SRY negative: a confirmed cause of infertility
    Annalisa Vetro
    Medical Genetics, University of Pavia, Via Forlanini 14, 27100 Pavia, Italy
    J Med Genet 48:710-2. 2011
    ....
  18. pmc New perspectives on osteogenesis imperfecta
    Antonella Forlino
    Department of Biochemistry, Section of Medicine and Pharmacy, University of Pavia, Italy
    Nat Rev Endocrinol 7:540-57. 2011
    ..Novel treatments using cell therapy or new drug regimens hold promise for the future...
  19. doi request reprint Characterization of stress response in human retinal epithelial cells
    Vincenzo Giansanti
    Istituto di Genetica Molecolare, CNR, Pavia, Italy
    J Cell Mol Med 17:103-15. 2013
    ....
  20. ncbi request reprint Brittle IV mouse model for osteogenesis imperfecta IV demonstrates postpubertal adaptations to improve whole bone strength
    Kenneth M Kozloff
    Orthopaedic Research Laboratories, Department of Orthopaedic Surgery, University of Michigan, Ann Arbor, Michigan 48109 0486, USA
    J Bone Miner Res 19:614-22. 2004
    ..This adaptation is accomplished without a corresponding improvement in geometric resistance to bending, suggesting an improvement in matrix material properties...
  21. ncbi request reprint Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans
    Joan C Marini
    Bone and Extracellular Matrix Branch, National Institute of Child Health and Human Development, NIH, Bethesda, Maryland 20892, USA
    Hum Mutat 28:209-21. 2007
    ..Our data on genotype-phenotype relationships indicate that the two collagen chains play very different roles in matrix integrity and that phenotype depends on intracellular and extracellular events...
  22. ncbi request reprint Structure, stability and interactions of type I collagen with GLY349-CYS substitution in alpha 1(I) chain in a murine Osteogenesis Imperfecta model
    Natalia V Kuznetsova
    Section on Physical Biochemistry, National Institute of Child Health and Human Development, National Institutes of Health, Bldg 9, Rm 1E 127, Bethesda, MD 20892, USA
    Matrix Biol 23:101-12. 2004
    ....
  23. doi request reprint Decorin transfection induces proteomic and phenotypic modulation in breast cancer cells 8701-BC
    Ida Pucci-Minafra
    Dipartimento di Oncologia Sperimentale e Applicazioni Cliniche, University of Palermo, Palermo, Italy
    Connect Tissue Res 49:30-41. 2008
    ..These results disclose original aspects related to the reversion of malignant traits of a prototype of breast cancer cells induced by decorin. They also raise additional interest for the postulated clinical application of decorin...
  24. ncbi request reprint Prolidase deficiency: case reports of two Argentinian brothers
    Hugo N Cabrera
    Dermatology Department, Prof Dr A Posadas Hospital, Buenos Aires, Argentina
    Int J Dermatol 43:684-6. 2004
  25. ncbi request reprint A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype
    Antonella Forlino
    Dipartimento di Biochimica Alessandro Castellani, Universita di Pavia, Italy
    Hum Mol Genet 14:859-71. 2005
    ..The similarity with human DTD makes this mouse strain a useful model to explore pathogenetic and therapeutic aspects of DTDST-related disorders...
  26. ncbi request reprint HEM dysplasia and ichthyosis are likely laminopathies and not due to 3beta-hydroxysterol Delta14-reductase deficiency
    Christopher A Wassif
    Heritable Disorders Branch, NICHD, OD, NIH, DHHS, Bethesda, MD 20892, USA
    Hum Mol Genet 16:1176-87. 2007
    ....
  27. ncbi request reprint Insights from a transgenic mouse model on the role of SLC26A2 in health and disease
    Antonella Forlino
    Dipartimento di Biochimica Alessandro Castellani, Universita di Pavia, 1 27100 Pavia, Italy
    Novartis Found Symp 273:193-206; discussion 206-12, 261-4. 2006
    ..The similarity with human diastrophic dysplasia makes this mouse a model to explore pathogenetic and therapeutic aspects of SLC26A2-related disorders...
  28. ncbi request reprint Procollagen with skipping of alpha 1(I) exon 41 has lower binding affinity for alpha 1(I) C-telopeptide, impaired in vitro fibrillogenesis, and altered fibril morphology
    Wayne A Cabral
    Section on Connective Tissue Disorders, Heritable Disorders Branch, NICHD, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Biol Chem 277:4215-22. 2002
    ..Both abnormal fibrils and slower remodeling may contribute to the severe phenotype.in..