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Items: 1 to 50 of 92

1.

Absence of Dipeptidyl Peptidase 3 Increases Oxidative Stress and Causes Bone Loss.

Menale C, Robinson LJ, Palagano E, Rigoni R, Erreni M, Almarza AJ, Strina D, Mantero S, Lizier M, Forlino A, Besio R, Monari M, Vezzoni P, Cassani B, Blair HC, Villa A, Sobacchi C.

J Bone Miner Res. 2019 Jul 11. doi: 10.1002/jbmr.3829. [Epub ahead of print]

PMID:
31295380
2.

Prolidase enzyme is required for extracellular matrix integrity and impacts on postnatal cerebellar cortex development.

Insolia V, Priori EC, Gasperini C, Coppa F, Cocchia M, Iervasi E, Ferrari B, Besio R, Maruelli S, Bernocchi G, Forlino A, Bottone MG.

J Comp Neurol. 2019 Jun 27. doi: 10.1002/cne.24735. [Epub ahead of print]

PMID:
31246278
3.

Bone biology: insights from osteogenesis imperfecta and related rare fragility syndromes.

Besio R, Chow CW, Tonelli F, Marini JC, Forlino A.

FEBS J. 2019 Aug;286(15):3033-3056. doi: 10.1111/febs.14963. Epub 2019 Jul 5. Review.

PMID:
31220415
4.

Cellular stress due to impairment of collagen prolyl hydroxylation complex is rescued by the chaperone 4-phenylbutyrate.

Besio R, Garibaldi N, Leoni L, Cipolla L, Sabbioneda S, Biggiogera M, Mottes M, Aglan M, Otaify GA, Temtamy SA, Rossi A, Forlino A.

Dis Model Mech. 2019 Jun 20;12(6). pii: dmm038521. doi: 10.1242/dmm.038521.

5.

Testing the Cre-mediated genetic switch for the generation of conditional knock-in mice.

Capulli M, Costantini R, Sonntag S, Maurizi A, Paganini C, Monti L, Forlino A, Shmerling D, Teti A, Rossi A.

PLoS One. 2019 Mar 13;14(3):e0213660. doi: 10.1371/journal.pone.0213660. eCollection 2019.

6.

Steady-State and Pulse-Chase Analyses of Fibrillar Collagen.

Forlino A, Tonelli F, Besio R.

Methods Mol Biol. 2019;1952:45-53. doi: 10.1007/978-1-4939-9133-4_4.

PMID:
30825164
7.

Calcium activated nucleotidase 1 (CANT1) is critical for glycosaminoglycan biosynthesis in cartilage and endochondral ossification.

Paganini C, Monti L, Costantini R, Besio R, Lecci S, Biggiogera M, Tian K, Schwartz JM, Huber C, Cormier-Daire V, Gibson BG, Pirog KA, Forlino A, Rossi A.

Matrix Biol. 2019 Aug;81:70-90. doi: 10.1016/j.matbio.2018.11.002. Epub 2018 Nov 12.

8.

Early Fracture Healing is Delayed in the Col1a2+/G610C Osteogenesis Imperfecta Murine Model.

Besio R, Maruelli S, Battaglia S, Leoni L, Villani S, Layrolle P, Rossi A, Trichet V, Forlino A.

Calcif Tissue Int. 2018 Dec;103(6):653-662. doi: 10.1007/s00223-018-0461-x. Epub 2018 Aug 3.

PMID:
30076439
9.

Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1.

Palagano E, Zuccarini G, Prontera P, Borgatti R, Stangoni G, Elisei S, Mantero S, Menale C, Forlino A, Uva P, Oppo M, Vezzoni P, Villa A, Merlo GR, Sobacchi C.

Bone. 2018 Sep;114:125-136. doi: 10.1016/j.bone.2018.06.013. Epub 2018 Jun 19.

PMID:
29929043
10.

Severely Impaired Bone Material Quality in Chihuahua Zebrafish Resembles Classical Dominant Human Osteogenesis Imperfecta.

Fiedler IAK, Schmidt FN, Wölfel EM, Plumeyer C, Milovanovic P, Gioia R, Tonelli F, Bale HA, Jähn K, Besio R, Forlino A, Busse B.

J Bone Miner Res. 2018 Aug;33(8):1489-1499. doi: 10.1002/jbmr.3445. Epub 2018 Jun 15.

11.

4-PBA ameliorates cellular homeostasis in fibroblasts from osteogenesis imperfecta patients by enhancing autophagy and stimulating protein secretion.

Besio R, Iula G, Garibaldi N, Cipolla L, Sabbioneda S, Biggiogera M, Marini JC, Rossi A, Forlino A.

Biochim Biophys Acta Mol Basis Dis. 2018 May;1864(5 Pt A):1642-1652. doi: 10.1016/j.bbadis.2018.02.002. Epub 2018 Feb 10.

12.

Osteogenesis imperfecta.

Marini JC, Forlino A, Bächinger HP, Bishop NJ, Byers PH, Paepe A, Fassier F, Fratzl-Zelman N, Kozloff KM, Krakow D, Montpetit K, Semler O.

Nat Rev Dis Primers. 2017 Aug 18;3:17052. doi: 10.1038/nrdp.2017.52. Review.

PMID:
28820180
13.

Cytoskeleton and nuclear lamina affection in recessive osteogenesis imperfecta: A functional proteomics perspective.

Gagliardi A, Besio R, Carnemolla C, Landi C, Armini A, Aglan M, Otaify G, Temtamy SA, Forlino A, Bini L, Bianchi L.

J Proteomics. 2017 Sep 7;167:46-59. doi: 10.1016/j.jprot.2017.08.007. Epub 2017 Aug 9.

14.

The chaperone activity of 4PBA ameliorates the skeletal phenotype of Chihuahua, a zebrafish model for dominant osteogenesis imperfecta.

Gioia R, Tonelli F, Ceppi I, Biggiogera M, Leikin S, Fisher S, Tenedini E, Yorgan TA, Schinke T, Tian K, Schwartz JM, Forte F, Wagener R, Villani S, Rossi A, Forlino A.

Hum Mol Genet. 2017 Aug 1;26(15):2897-2911. doi: 10.1093/hmg/ddx171.

15.

MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome.

Vetro A, Savasta S, Russo Raucci A, Cerqua C, Sartori G, Limongelli I, Forlino A, Maruelli S, Perucca P, Vergani D, Mazzini G, Mattevi A, Stivala LA, Salviati L, Zuffardi O.

Eur J Hum Genet. 2017 May;25(5):646-650. doi: 10.1038/ejhg.2017.5. Epub 2017 Feb 15.

16.

Zebrafish Collagen Type I: Molecular and Biochemical Characterization of the Major Structural Protein in Bone and Skin.

Gistelinck C, Gioia R, Gagliardi A, Tonelli F, Marchese L, Bianchi L, Landi C, Bini L, Huysseune A, Witten PE, Staes A, Gevaert K, De Rocker N, Menten B, Malfait F, Leikin S, Carra S, Tenni R, Rossi A, De Paepe A, Coucke P, Willaert A, Forlino A.

Sci Rep. 2016 Feb 15;6:21540. doi: 10.1038/srep21540.

17.

A Rare Cause of Lower Extremity Ulcers: Prolidase Deficiency.

Adışen E, Erduran FB, Ezgü FS, Kasapkara ÇS, Besio R, Forlino A, Gürer MA.

Int J Low Extrem Wounds. 2016 Mar;15(1):86-91. doi: 10.1177/1534734615619550. Epub 2015 Dec 4.

PMID:
26637345
18.

Osteogenesis imperfecta.

Forlino A, Marini JC.

Lancet. 2016 Apr 16;387(10028):1657-71. doi: 10.1016/S0140-6736(15)00728-X. Epub 2015 Nov 3. Review.

PMID:
26542481
19.

Altered cytoskeletal organization characterized lethal but not surviving Brtl+/- mice: insight on phenotypic variability in osteogenesis imperfecta.

Bianchi L, Gagliardi A, Maruelli S, Besio R, Landi C, Gioia R, Kozloff KM, Khoury BM, Coucke PJ, Symoens S, Marini JC, Rossi A, Bini L, Forlino A.

Hum Mol Genet. 2015 Nov 1;24(21):6118-33. doi: 10.1093/hmg/ddv328. Epub 2015 Aug 11.

20.

N-acetylcysteine treatment ameliorates the skeletal phenotype of a mouse model of diastrophic dysplasia.

Monti L, Paganini C, Lecci S, De Leonardis F, Hay E, Cohen-Solal M, Villani S, Superti-Furga A, Tenni R, Forlino A, Rossi A.

Hum Mol Genet. 2015 Oct 1;24(19):5570-80. doi: 10.1093/hmg/ddv289. Epub 2015 Jul 23.

PMID:
26206888
21.

Flavivirus Antagonism of Type I Interferon Signaling Reveals Prolidase as a Regulator of IFNAR1 Surface Expression.

Lubick KJ, Robertson SJ, McNally KL, Freedman BA, Rasmussen AL, Taylor RT, Walts AD, Tsuruda S, Sakai M, Ishizuka M, Boer EF, Foster EC, Chiramel AI, Addison CB, Green R, Kastner DL, Katze MG, Holland SM, Forlino A, Freeman AF, Boehm M, Yoshii K, Best SM.

Cell Host Microbe. 2015 Jul 8;18(1):61-74. doi: 10.1016/j.chom.2015.06.007.

22.

Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association.

Vetro A, Iascone M, Limongelli I, Ameziane N, Gana S, Della Mina E, Giussani U, Ciccone R, Forlino A, Pezzoli L, Rooimans MA, van Essen AJ, Messa J, Rizzuti T, Bianchi P, Dorsman J, de Winter JP, Lalatta F, Zuffardi O.

Hum Mutat. 2015 May;36(5):562-8. doi: 10.1002/humu.22784. Epub 2015 Apr 7.

PMID:
25754594
23.

Lack of prolidase causes a bone phenotype both in human and in mouse.

Besio R, Maruelli S, Gioia R, Villa I, Grabowski P, Gallagher O, Bishop NJ, Foster S, De Lorenzi E, Colombo R, Diaz JL, Moore-Barton H, Deshpande C, Aydin HI, Tokatli A, Kwiek B, Kasapkara CS, Adisen EO, Gurer MA, Di Rocco M, Phang JM, Gunn TM, Tenni R, Rossi A, Forlino A.

Bone. 2015 Mar;72:53-64. doi: 10.1016/j.bone.2014.11.009. Epub 2014 Nov 20.

PMID:
25460580
24.

TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy.

DiFrancesco JC, Novara F, Zuffardi O, Forlino A, Gioia R, Cossu F, Bolognesi M, Andreoni S, Saracchi E, Frigeni B, Stellato T, Tolnay M, Winkler DT, Remida P, Isimbaldi G, Ferrarese C.

Neurol Sci. 2015 Feb;36(2):323-30. doi: 10.1007/s10072-014-1944-9. Epub 2014 Sep 12.

PMID:
25213617
25.

Altered signaling in the G1 phase deregulates chondrocyte growth in a mouse model with proteoglycan undersulfation.

De Leonardis F, Monti L, Gualeni B, Tenni R, Forlino A, Rossi A.

J Cell Biochem. 2014 Oct;115(10):1779-86. doi: 10.1002/jcb.24844.

26.

PRKACB and Carney complex.

Forlino A, Vetro A, Garavelli L, Ciccone R, London E, Stratakis CA, Zuffardi O.

N Engl J Med. 2014 Mar 13;370(11):1065-7. doi: 10.1056/NEJMc1309730. Epub 2014 Feb 26. No abstract available.

PMID:
24571725
27.

Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome.

Beuschlein F, Fassnacht M, Assié G, Calebiro D, Stratakis CA, Osswald A, Ronchi CL, Wieland T, Sbiera S, Faucz FR, Schaak K, Schmittfull A, Schwarzmayr T, Barreau O, Vezzosi D, Rizk-Rabin M, Zabel U, Szarek E, Salpea P, Forlino A, Vetro A, Zuffardi O, Kisker C, Diener S, Meitinger T, Lohse MJ, Reincke M, Bertherat J, Strom TM, Allolio B.

N Engl J Med. 2014 Mar 13;370(11):1019-28. doi: 10.1056/NEJMoa1310359. Epub 2014 Feb 26.

28.

Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing.

Salpea P, Horvath A, London E, Faucz FR, Vetro A, Levy I, Gourgari E, Dauber A, Holm IA, Morrison PJ, Keil MF, Lyssikatos C, Smith ED, Sanidad MA, Kelly JC, Dai Z, Mowrey P, Forlino A, Zuffardi O, Stratakis CA.

J Clin Endocrinol Metab. 2014 Jan;99(1):E183-8. doi: 10.1210/jc.2013-3159. Epub 2013 Dec 20.

29.

Allele-specific Col1a1 silencing reduces mutant collagen in fibroblasts from Brtl mouse, a model for classical osteogenesis imperfecta.

Rousseau J, Gioia R, Layrolle P, Lieubeau B, Heymann D, Rossi A, Marini JC, Trichet V, Forlino A.

Eur J Hum Genet. 2014 May;22(5):667-74. doi: 10.1038/ejhg.2013.198. Epub 2013 Sep 11.

30.

Multiple effects of the Na(+)/H (+) antiporter inhibitor HMA on cancer cells.

Aredia F, Giansanti V, Mazzini G, Savio M, Ortiz LM, Jaadane I, Zaffaroni N, Forlino A, Torriglia A, Scovassi AI.

Apoptosis. 2013 Dec;18(12):1586-98. doi: 10.1007/s10495-013-0898-3.

PMID:
23996609
31.

Kinetic and structural evidences on human prolidase pathological mutants suggest strategies for enzyme functional rescue.

Besio R, Gioia R, Cossu F, Monzani E, Nicolis S, Cucca L, Profumo A, Casella L, Tenni R, Bolognesi M, Rossi A, Forlino A.

PLoS One. 2013;8(3):e58792. doi: 10.1371/journal.pone.0058792. Epub 2013 Mar 13.

32.

Partial Rescue of Biochemical Parameters After Hematopoietic Stem Cell Transplantation in a Patient with Prolidase Deficiency Due to Two Novel PEPD Mutations.

Caselli D, Cimaz R, Besio R, Rossi A, De Lorenzi E, Colombo R, Cantarini L, Riva S, Spada M, Forlino A, Aricò M.

JIMD Rep. 2012;3:71-7. doi: 10.1007/8904_2011_62. Epub 2011 Sep 27.

33.

Alteration of proteoglycan sulfation affects bone growth and remodeling.

Gualeni B, de Vernejoul MC, Marty-Morieux C, De Leonardis F, Franchi M, Monti L, Forlino A, Houillier P, Rossi A, Geoffroy V.

Bone. 2013 May;54(1):83-91. doi: 10.1016/j.bone.2013.01.036. Epub 2013 Jan 28.

34.

Characterization of stress response in human retinal epithelial cells.

Giansanti V, Rodriguez GE, Savoldelli M, Gioia R, Forlino A, Mazzini G, Pennati M, Zaffaroni N, Scovassi AI, Torriglia A.

J Cell Mol Med. 2013 Jan;17(1):103-15. doi: 10.1111/j.1582-4934.2012.01652.x. Epub 2012 Dec 4.

35.

A Mn(II)-Mn(II) center in human prolidase.

Besio R, Baratto MC, Gioia R, Monzani E, Nicolis S, Cucca L, Profumo A, Casella L, Basosi R, Tenni R, Rossi A, Forlino A.

Biochim Biophys Acta. 2013 Jan;1834(1):197-204. doi: 10.1016/j.bbapap.2012.09.008. Epub 2012 Sep 19.

PMID:
22999980
36.

Differential response to intracellular stress in the skin from osteogenesis imperfecta Brtl mice with lethal and non lethal phenotype: a proteomic approach.

Bianchi L, Gagliardi A, Gioia R, Besio R, Tani C, Landi C, Cipriano M, Gimigliano A, Rossi A, Marini JC, Forlino A, Bini L.

J Proteomics. 2012 Aug 3;75(15):4717-33. doi: 10.1016/j.jprot.2012.01.038. Epub 2012 Feb 18.

PMID:
22846432
37.

Replenishing cartilage from endogenous stem cells.

Marini JC, Forlino A.

N Engl J Med. 2012 Jun 28;366(26):2522-4. doi: 10.1056/NEJMcibr1204283. No abstract available.

38.

Matrix disruptions, growth, and degradation of cartilage with impaired sulfation.

Mertz EL, Facchini M, Pham AT, Gualeni B, De Leonardis F, Rossi A, Forlino A.

J Biol Chem. 2012 Jun 22;287(26):22030-42. doi: 10.1074/jbc.M110.116467. Epub 2012 May 3.

39.

Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.

Nizon M, Huber C, De Leonardis F, Merrina R, Forlino A, Fradin M, Tuysuz B, Abu-Libdeh BY, Alanay Y, Albrecht B, Al-Gazali L, Basaran SY, Clayton-Smith J, Désir J, Gill H, Greally MT, Koparir E, van Maarle MC, MacKay S, Mortier G, Morton J, Sillence D, Vilain C, Young I, Zerres K, Le Merrer M, Munnich A, Le Goff C, Rossi A, Cormier-Daire V.

Hum Mutat. 2012 Aug;33(8):1261-6. doi: 10.1002/humu.22104. Epub 2012 May 22.

40.

Impaired osteoblastogenesis in a murine model of dominant osteogenesis imperfecta: a new target for osteogenesis imperfecta pharmacological therapy.

Gioia R, Panaroni C, Besio R, Palladini G, Merlini G, Giansanti V, Scovassi IA, Villani S, Villa I, Villa A, Vezzoni P, Tenni R, Rossi A, Marini JC, Forlino A.

Stem Cells. 2012 Jul;30(7):1465-76. doi: 10.1002/stem.1107.

41.

Improved prolidase activity assay allowed enzyme kinetic characterization and faster prolidase deficiency diagnosis.

Besio R, Monzani E, Gioia R, Nicolis S, Rossi A, Casella L, Forlino A.

Clin Chim Acta. 2011 Sep 18;412(19-20):1814-20. doi: 10.1016/j.cca.2011.06.011. Epub 2011 Jun 15.

PMID:
21699887
42.

New perspectives on osteogenesis imperfecta.

Forlino A, Cabral WA, Barnes AM, Marini JC.

Nat Rev Endocrinol. 2011 Jun 14;7(9):540-57. doi: 10.1038/nrendo.2011.81. Review.

43.

XX males SRY negative: a confirmed cause of infertility.

Vetro A, Ciccone R, Giorda R, Patricelli MG, Della Mina E, Forlino A, Zuffardi O.

J Med Genet. 2011 Oct;48(10):710-2. doi: 10.1136/jmedgenet-2011-100036. Epub 2011 Jun 7.

44.

Current and emerging treatments for the management of osteogenesis imperfecta.

Monti E, Mottes M, Fraschini P, Brunelli P, Forlino A, Venturi G, Doro F, Perlini S, Cavarzere P, Antoniazzi F.

Ther Clin Risk Manag. 2010 Sep 7;6:367-81.

45.

Defective proteoglycan sulfation of the growth plate zones causes reduced chondrocyte proliferation via an altered Indian hedgehog signalling.

Gualeni B, Facchini M, De Leonardis F, Tenni R, Cetta G, Viola M, Passi A, Superti-Furga A, Forlino A, Rossi A.

Matrix Biol. 2010 Jul;29(6):453-60. doi: 10.1016/j.matbio.2010.05.001. Epub 2010 May 11.

PMID:
20470884
46.

Identifying the structure of the active sites of human recombinant prolidase.

Besio R, Alleva S, Forlino A, Lupi A, Meneghini C, Minicozzi V, Profumo A, Stellato F, Tenni R, Morante S.

Eur Biophys J. 2010 May;39(6):935-45. doi: 10.1007/s00249-009-0459-4. Epub 2009 May 5.

PMID:
19415262
47.

In utero transplantation of adult bone marrow decreases perinatal lethality and rescues the bone phenotype in the knockin murine model for classical, dominant osteogenesis imperfecta.

Panaroni C, Gioia R, Lupi A, Besio R, Goldstein SA, Kreider J, Leikin S, Vera JC, Mertz EL, Perilli E, Baruffaldi F, Villa I, Farina A, Casasco M, Cetta G, Rossi A, Frattini A, Marini JC, Vezzoni P, Forlino A.

Blood. 2009 Jul 9;114(2):459-68. doi: 10.1182/blood-2008-12-195859. Epub 2009 May 4.

48.

A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia.

Bonafé L, Hästbacka J, de la Chapelle A, Campos-Xavier AB, Chiesa C, Forlino A, Superti-Furga A, Rossi A.

J Med Genet. 2008 Dec;45(12):827-31. doi: 10.1136/jmg.2007.057158. Epub 2008 Aug 15.

49.

Cellular mechanism of decreased bone in Brtl mouse model of OI: imbalance of decreased osteoblast function and increased osteoclasts and their precursors.

Uveges TE, Collin-Osdoby P, Cabral WA, Ledgard F, Goldberg L, Bergwitz C, Forlino A, Osdoby P, Gronowicz GA, Marini JC.

J Bone Miner Res. 2008 Dec;23(12):1983-94. doi: 10.1359/jbmr.080804.

50.

Glycosaminoglycans show a specific periodic interaction with type I collagen fibrils.

Raspanti M, Viola M, Forlino A, Tenni R, Gruppi C, Tira ME.

J Struct Biol. 2008 Oct;164(1):134-9. doi: 10.1016/j.jsb.2008.07.001. Epub 2008 Jul 10.

PMID:
18664384

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