Research Topics
Genomes and Genes | Antonella ForlinoSummaryAffiliation: University of Pavia Country: Italy Publications
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Detail Information
Publications
Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblastsAntonella 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...- Differential expression of both extracellular and intracellular proteins is involved in the lethal or nonlethal phenotypic variation of BrtlIV, a murine model for osteogenesis imperfectaAntonella 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... - Selective retention and degradation of molecules with a single mutant alpha1(I) chain in the Brtl IV mouse model of OIAntonella 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... - N-benzyloxycarbonyl-L-proline: an in vitro and in vivo inhibitor of prolidaseAnna 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... - Characterization of a new PEPD allele causing prolidase deficiency in two unrelated patients: natural-occurrent mutations as a tool to investigate structure-function relationshipAnna 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... - Human recombinant prolidase from eukaryotic and prokaryotic sources. Expression, purification, characterization and long-term stability studiesAnna 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... 
A Mn(II)-Mn(II) center in human prolidaseRoberta 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....- Defective proteoglycan sulfation of the growth plate zones causes reduced chondrocyte proliferation via an altered Indian hedgehog signallingBenedetta 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... 
Kinetic and structural evidences on human prolidase pathological mutants suggest strategies for enzyme functional rescueRoberta 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...- A quantitative and qualitative method for direct 2-DE analysis of murine cartilageFabio 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... - Improved prolidase activity assay allowed enzyme kinetic characterization and faster prolidase deficiency diagnosisRoberta 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... - Impaired osteoblastogenesis in a murine model of dominant osteogenesis imperfecta: a new target for osteogenesis imperfecta pharmacological therapyRoberta 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... - In vivo contribution of amino acid sulfur to cartilage proteoglycan sulfationFabio Pecora
Dipartimento di Biochimica Alessandro Castellani, Universita di Pavia, Via Taramelli 3 B, I 27100 Pavia, Italy
Biochem J 398:509-14. 2006.... - Optimization of a capillary electrophoretic method to detect and quantify the Gly-Pro dipeptide in complex matrices from long term cultured prolidase deficiency fibroblastsAnna 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... - Identifying the structure of the active sites of human recombinant prolidaseRoberta 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... - XX males SRY negative: a confirmed cause of infertilityAnnalisa Vetro
Medical Genetics, University of Pavia, Via Forlanini 14, 27100 Pavia, Italy
J Med Genet 48:710-2. 2011.... - Alteration of proteoglycan sulfation affects bone growth and remodelingBenedetta Gualeni
Department of Molecular Medicine, Section of Biochemistry, University of Pavia, Pavia, Italy
Bone 54:83-91. 2013.... - New perspectives on osteogenesis imperfectaAntonella 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... - Characterization of stress response in human retinal epithelial cellsVincenzo Giansanti
Istituto di Genetica Molecolare, CNR, Pavia, Italy
J Cell Mol Med 17:103-15. 2013.... - 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 proteoglycansJoan 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... - Structure, stability and interactions of type I collagen with GLY349-CYS substitution in alpha 1(I) chain in a murine Osteogenesis Imperfecta modelNatalia 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.... - Brittle IV mouse model for osteogenesis imperfecta IV demonstrates postpubertal adaptations to improve whole bone strengthKenneth 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... - Insights from a transgenic mouse model on the role of SLC26A2 in health and diseaseAntonella 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... - A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotypeAntonella 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... - HEM dysplasia and ichthyosis are likely laminopathies and not due to 3beta-hydroxysterol Delta14-reductase deficiencyChristopher A Wassif
Heritable Disorders Branch, NICHD, OD, NIH, DHHS, Bethesda, MD 20892, USA
Hum Mol Genet 16:1176-87. 2007.... - Decorin transfection induces proteomic and phenotypic modulation in breast cancer cells 8701-BCIda 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... - Prolidase deficiency: case reports of two Argentinian brothersHugo N Cabrera
Dermatology Department, Prof. Dr A. Posadas Hospital, Buenos Aires, Argentina
Int J Dermatol 43:684-6. 2004 - 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 morphologyWayne 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..