Selected Publications: 20-25 publications listed in details with all the contributing authors, title of the papers, journal, dates.

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. Absence of Dipeptidyl Peptidase 3 increases oxidative stress and causes bone loss. J Bone Miner Res. 2019 Jul 11. doi: 10.1002/jbmr.3829. [Epub ahead of print]

PMID: 31295380

Sobacchi C, Menale C, Villa A. The RANKL-RANK axis: a bone to thymus round trip. Front Immunol. 2019 Mar 29;10:629. doi: 10.3389/fimmu.2019.00629. PMID: 30984193

Menale C, Campodoni E, Palagano E, Mantero S, Erreni M, Inforzato A, Fontana E, Schena F, Van’t Hof R, Sandri M, Tampieri A, Villa A, Sobacchi C. Mesenchymal Stromal Cell-seeded Biomimetic scaffolds as a factory of soluble RANKL in Rankl-Deficient Osteopetrosis. Stem Cells Transl Med. 2019 Jan;8(1):22-34. doi: 10.1002/sctm.18-0085. PMID: 30184340

Sobacchi C, Erreni M, Strina D, Palagano E, Villa A, Menale C. 3D Bone Biomimetic Scaffolds for basic and translational studies with Mesenchymal Stem Cells. Int J Mol Sci. 2018 Oct 13;19(10). pii: E3150. doi: 10.3390/ijms19103150. PMID: 30322134

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. Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1. Bone. 2018 Sep;114:125-136. doi: 10.1016/j.bone.2018.06.013. PMID: 29929043

Palagano E, Menale C, Sobacchi C, Villa A. Genetics of Osteopetrosis. Curr Osteoporos Rep. 2018 Feb;16(1):13-25. doi: 10.1007/s11914-018-0415-2. PMID: 29335834

Sobacchi C, Palagano E, Villa A, Menale C. Soluble Factors on Stage to Direct Mesenchymal Stem Cells Fate. Front Bioeng Biotechnol. 2017 May 17;5:32. doi: 10.3389/fbioe.2017.00032. PMID: 28567372

Schena F, Menale C, Caci E, Diomede L, Palagano E, Recordati C, Sandri M, Tampieri A, Bortolomai I, Capo V, Pastorino C, Bertoni A, Gattorno M, Martini A, Villa A, Traggiai E, Sobacchi C. Murine Rankl-/- Mesenchymal Stromal Cells Display an Osteogenic Differentiation Defect Improved by a RANKL-Expressing Lentiviral Vector. Stem Cells. 2017 May;35(5):1365-1377. doi: 10.1002/stem.2574. PMID: 28100034

Palagano E, Slatter MA, Uva P, Menale C, Villa A, Abinun M, Sobacchi C. Hematopoietic stem cell transplantation corrects osteopetrosis in a child carrying a novel homozygous mutation in the FERMT3 gene. Bone. 2017 Apr;97:126-129. doi: 10.1016/j.bone.2017.01.012. PMID: 28095295

Weisz Hubshman M, Basel-Vanagaite L, Krauss A, Konen O, Levy Y, Garty BZ, Smirin-Yosef P, Maya I, Lagovsky I, Taub E, Marom D, Gaash D, Shichrur K, Avigad S, Hayman-Manzur L, Villa A, Sobacchi C, Shohat M, Yaniv I, Stein J. Homozygous deletion of RAG1, RAG2 and 5′ region TRAF6 causes severe immune suppression and atypical osteopetrosis. Clin Genet. 2017 Jun;91(6):902-907. doi: 10.1111/cge.12916. PMID: 27808398

Palagano E, Susani L, Menale C, Ramenghi U, Berger M, Uva P, Oppo M, Vezzoni P, Villa A, Sobacchi C. Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis. J Bone Miner Res. 2017 Jan;32(1):99-105. doi: 10.1002/jbmr.2929. PMID: 27468155

Sobacchi C, Villa A, Schulz A, Kornak U. CLCN7-Related Osteopetrosis. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. 2007 Feb 12 [updated 2016 Jun 9]. PMID: 20301306

Neri T, Muggeo S, Paulis M, Caldana ME, Crisafulli L, Strina D, Focarelli ML, Faggioli F, Recordati C, Scaramuzza S, Scanziani E, Mantero S, Buracchi C, Sobacchi C, Lombardo A, Naldini L, Vezzoni P, Villa A, Ficara F. Targeted Gene Correction in Osteopetrotic-Induced Pluripotent Stem Cells for the Generation of Functional Osteoclasts. Stem Cell Reports. 2015 Oct 13;5(4):558-68. doi: 10.1016/j.stemcr.2015.08.005 PMID: 26344905

Palagano E, Blair HC, Pangrazio A, Tourkova I, Strina D, Angius A, Cuccuru G, Oppo M, Uva P, Van Hul W, Boudin E, Superti-Furga A, Faletra F, Nocerino A, Ferrari MC, Grappiolo G, Monari M, Montanelli A, Vezzoni P, Villa A, Sobacchi C. Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis. J Bone Miner Res. 2015 Oct;30(10):1814-21. doi: 10.1002/jbmr.2517. PMID: 25829125

Sobacchi C, Pangrazio A, Lopez AG, Gomez DP, Caldana ME, Susani L, Vezzoni P, Villa A. As little as needed: the extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene. J Bone Miner Res. 2014 Jul;29(7):1646-50. doi: 10.1002/jbmr.2203. PMID: 24535816

Pangrazio A, Puddu A, Oppo M, Valentini M, Zammataro L, Vellodi A, Gener B, Llano-Rivas I, Raza J, Atta I, Vezzoni P, Superti-Furga A, Villa A, Sobacchi C. Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis. Bone. 2014 Feb;59:122-6. doi: 10.1016/j.bone.2013.11.014. PMID: 24269275

Sobacchi C, Schulz A, Coxon FP, Villa A, Helfrich MH. Osteopetrosis: genetics, treatment and new insights into osteoclast function. Nat Rev Endocrinol. 2013 Sep;9(9):522-36. doi: 10.1038/nrendo.2013.137. PMID: 23877423

Pangrazio A, Fasth A, Sbardellati A, Orchard PJ, Kasow KA, Raza J, Albayrak C, Albayrak D, Vanakker OM, De Moerloose B, Vellodi A, Notarangelo LD, Schlack C, Strauss G, Kühl JS, Caldana E, Lo Iacono N, Susani L, Kornak U, Schulz A, Vezzoni P, Villa A, Sobacchi C. SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity. J Bone Miner Res. 2013 May;28(5):1041-9. doi: 10.1002/jbmr.1849. PMID: 23280965

Lo Iacono N, Blair HC, Poliani PL, Marrella V, Ficara F, Cassani B, Facchetti F, Fontana E, Guerrini MM, Traggiai E, Schena F, Paulis M, Mantero S, Inforzato A, Valaperta S, Pangrazio A, Crisafulli L, Maina V, Kostenuik P, Vezzoni P, Villa A, Sobacchi C. Osteopetrosis rescue upon RANKL administration to Rankl(-/-) mice: a new therapy for human RANKL-dependent ARO. J Bone Miner Res. 2012 Dec;27(12):2501-10. doi: 10.1002/jbmr.1712. PMID: 22836362

Pangrazio A, Cassani B, Guerrini MM, Crockett JC, Marrella V, Zammataro L, Strina D, Schulz A, Schlack C, Kornak U, Mellis DJ, Duthie A, Helfrich MH, Durandy A, Moshous D, Vellodi A, Chiesa R, Veys P, Lo Iacono N, Vezzoni P, Fischer A, Villa A, Sobacchi C. RANK-dependent autosomal recessive osteopetrosis: characterization of five new cases with novel mutations. J Bone Miner Res. 2012 Feb;27(2):342-51. doi: 10.1002/jbmr.559. PMID: 22271396

Pangrazio A, Pusch M, Caldana E, Frattini A, Lanino E, Tamhankar PM, Phadke S, Lopez AG, Orchard P, Mihci E, Abinun M, Wright M, Vettenranta K, Bariae I, Melis D, Tezcan I, Baumann C, Locatelli F, Zecca M, Horwitz E, Mansour LS, Van Roij M, Vezzoni P, Villa A, Sobacchi C. Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations. Hum Mutat. 2010 Jan;31(1):E1071-80. doi: 10.1002/humu.21167. PMID: 19953639

Villa A, Guerrini MM, Cassani B, Pangrazio A, Sobacchi C. Infantile malignant, autosomal recessive osteopetrosis: the rich and the poor. Calcif Tissue Int. 2009 Jan;84(1):1-12. doi: 10.1007/s00223-008-9196-4. PMID: 19082854

Sobacchi C, Frattini A, Guerrini MM, Abinun M, Pangrazio A, Susani L, Bredius R, Mancini G, Cant A, Bishop N, Grabowski P, Del Fattore A, Messina C, Errigo G, Coxon FP, Scott DI, Teti A, Rogers MJ, Vezzoni P, Villa A, Helfrich MH. Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. Nat Genet. 2007 Aug;39(8):960-2. PMID: 17632511

Sobacchi C, Frattini A, Orchard P, Porras O, Tezcan I, Andolina M, Babul-Hirji R, Baric I, Canham N, Chitayat D, Dupuis-Girod S, Ellis I, Etzioni A, Fasth A, Fisher A, Gerritsen B, Gulino V, Horwitz E, Klamroth V, Lanino E, Mirolo M, Musio A, Matthijs G, Nonomaya S, Notarangelo LD, Ochs HD, Superti Furga A, Valiaho J, van Hove JL, Vihinen M, Vujic D, Vezzoni P, Villa A. The mutational spectrum of human malignant autosomal recessive osteopetrosis. Hum Mol Genet. 2001 Aug 15;10(17):1767-73. PMID: 11532986

Frattini A, Orchard PJ, Sobacchi C, Giliani S, Abinun M, Mattsson JP, Keeling DJ, Andersson AK, Wallbrandt P, Zecca L, Notarangelo LD, Vezzoni P, Villa A. Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. Nat Genet. 2000 Jul;25(3):343-6. PMID: 10888887