Benvenuto nel Network dedicato alla ricerca e alla cura delle LAMINOPATIE

Wang B, Kronenberg-Tenga R, Rosti V, Di Patrizio Soldateschi E, Luo Q, Iannacchero UM, Pinet L, Eibauer M, Boujemaa-Paterski R, Schuler B, Lanzuolo C, Medalia O. The molecular basis of lamin-specific chromatin interactions. Nat Struct Mol Biol. 2025 Aug 1. doi: 10.1038/s41594-025-01622-5.


Vatier C, Araújo-Vilar D, Akinci B, Arnould T, Beaupère C, Bismuth E, Brown RJ, Ceccarini G, Collas P, Gambineri A, Gilio D, Halperin S, Janmaat S, Lamothe S, Lattanzi G, Maffei M, MacDougald OA, Mosbah H, Nobecourt E, Oral EA, Rochford J, Santini F, Schirmer EC, von Schnurbein J, Semple R, Tews D, Wabitsch M, Vantyghem MC, Vigouroux C. Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip) Paris, France, 20-21 May 2025. Ann Endocrinol (Paris). 2025 Jul 30;86(5):102432. doi: 10.1016/j.ando.2025.102432.


Mitra A, Cutiongco MFA, Burla R, Zeng Y, Na Q, Kong M, Vinod B, Nai MH, Hübner B, Ludwig A, Lim CT, Shivashankar GV, Saggio I, Zhao W.Acute chromatin decompaction stiffens the nucleus as revealed by nanopillar-induced nuclear deformation in cells. Proc Natl Acad Sci U S A. 2025 May 13;122(19):e2416659122. doi: 10.1073/pnas.2416659122. 


Gilio D, Besci O, Guidorizzi NR, Guler MC, Simsir IY, Pelosini C, Ceccarini G, Demir K, Akinci B, Santini F. Potential Impact of Parental Origin of Inheritance on the Clinical Presentation of Familial Partial Lipodystrophy Type 2 Syndrome. ECLip (European Consortium of Lipodystrophy); Foss-Freitas MC, Oral EA.Clin Endocrinol (Oxf). 2025 Oct;103(4):504-512. doi: 10.1111/cen.15303. 


Schena E, Pini A, Cavalcante P, Siciliano G, Ricci G. Anti-myogenic and profibrotic effect of serum from patients affected by muscular laminopathies. Acta Myol. 2025 Jun;44(2):73-76. doi: 10.36185/2532-1900-1126.


Cattin E, Schena E, Mattioli E, Marcuzzo S, Bonanno S, Cavalcante P, Corradi F, Benati D, Farinazzo G, Cattaneo M, De Sanctis V, Bertorelli R, Maggi L, Giannotta M, Pini A, Vattemi G, Cassandrini D, Cavallo M, Manferdini C, Lisignoli G, Fontana B, Pace I, Bruno C, Roncarati R, Fiorillo C, Ferracin M, Schirmer EC, Recchia A, Lattanzi G. Profibrotic Molecules Are Reduced in CRISPR-Edited Emery-Dreifuss Muscular Dystrophy Fibroblasts. Cells. 2025 Aug 27;14(17):1321. doi: 10.3390/cells14171321.


Garcia-Pavia P, Palomares JFR, Sinagra G, Barriales-Villa R, Lakdawala NK, Gottlieb RL, Goldberg RI, Elliott P, Lee P, Li H, Angeli FS, Judge DP, MacRae CA; REALM-DCM Investigators. REALM-DCM: A Phase 3, Multinational, Randomized, Placebo-Controlled Trial of ARRY-371797 in Patients With Symptomatic LMNA-Related Dilated Cardiomyopathy. Circ Heart Fail. 2024 Jul;17(7):e011548. doi:  10.1161/CIRCHEARTFAILURE.123.011548. 


Peretto G, Villatore A, Bosco L, Porro P, Strano CMM, Sorrenti B, Sista A, Ceres P, Mocetti C, Cecere A, Cione G, Carrera P, Esposito A, Della Bella P, Previtali SC, Di Resta C, Sala S. Multidisciplinary Screening of a Novel Founder LMNA Mutation Associated With Cardiomyopathy in a Geographic Isolate. JACC Heart Fail. 2025 Jul 14;13(9):102567. doi: 10.1016/j.jchf.2025.102567. PMID: 40664144


Brown RJ, Akinci B, Yosef M, Phillips H, Khalatbari S, Sorkina E, Santini F, Vigouroux C, Brush M, Meral R, Ceccarini G, Zeybel M, Prodam F, von Schnurbein J, Sorice GP, Guler MC, Patni N, Tanrikulu S, Alyaarubi S, Ozgen BS, Foss-Freitas MC, Ozisik S, Segrestin B, Ozcan B, Adiyaman SC, Musolino G, Sekizkardes H, Musso C, Lebenthal Y, Ozen S, Simha V, Simsir IY, Stears A, Scherer T, Gambineri A, Lima JG, Semple R, Wabitsch M, Araujo-Vilar D, Hegele RA, Oral EA. Lipodystrophy Severity Score to Assess Disease Burden in Lipodystrophy. J Clin Endocrinol Metab. 2025 Feb 19:dgaf103. doi: 10.1210/clinem/dgaf103.


Santovito LS, Bonanno S, Pasanisi MB, Gallone A, Ricci F, Tramacere I, Zanin R, Previtali SC, Maggi L. Natural history of skeletal muscle laminopathies: a 2-year prospective study. Neuromuscul Disord. 2025 Feb;47:105256. doi: 10.1016/j.nmd.2024.105256. Epub 2024 Nov 26. PMID: 39657283


Forleo C, Carella MC, Basile P, Carulli E, Dadamo ML, Amati F, Loizzi F, Sorrentino S, Dentamaro I, Dicorato MM, Ricci S, Bagnulo R, Iacoviello M, Santobuono VE, Caiati C, Pepe M, Desaphy JF, Ciccone MM, Resta N, Guaricci AI. Missense and Non-Missense Lamin A/C Gene Mutations Are Similarly Associated with Major Arrhythmic Cardiac Events: A 20-Year Single-Centre Experience. Biomedicines. 2024 Jun 11;12(6):1293. doi: 10.3390/biomedicines12061293. PMID: 38927500 


Cenni V, Evangelisti C, Santi S, Sabatelli P, Neri S, Cavallo M, Lattanzi G, Mattioli E. Desmin and Plectin Recruitment to the Nucleus and Nuclei Orientation Are Lost in Emery-Dreifuss Muscular Dystrophy Myoblasts Subjected to Mechanical Stimulation. Cells. 2024 Jan 16;13(2):162. doi: 10.3390/cells13020162.


Lattanzi G, Lanzuolo C, Cugudda E, Maggi L, Politano L, Santiago-Fernández O, Ricci G, Squarzoni S, Lopez-Otin C; Italian Network for Laminopathies. Aging research from bench to bedside and beyond: What we learned from Sammy Basso. Aging Cell. 2024 Dec; 23(12):e14414. doi: 10.1111/acel.14414. PMID: 39663551 Free PMC article. 


Petrini S, Bagnato G, Piccione M, D’Oria V, Apollonio V, Cappa M, Castiglioni C, Santorelli FM, Rizza T, Carrozzo R, Bertini ES, Peruzzi B. Imaging-Based Molecular Interaction Between Src and Lamin A/C Mechanosensitive Proteins in the Nucleus of Laminopathic Cells. Int J Mol Sci. 2024 Dec 13;25(24):13365. doi: 10.3390/ijms252413365. PMID: 39769130 Free PMC article.


La Torre M, Burla R, Saggio I. Preserving Genome Integrity: Unveiling the Roles of ESCRT Machinery. Cells. 2024 Aug 5;13(15):1307. doi: 10.3390/cells13151307. PMID: 39120335


Ceccarini G, Pelosini C, Paoli M, Tyutyusheva N, Magno S, Gilio D, Palladino L, Sessa MR, Bertelloni S, Santini F. Serum levels of adiponectin differentiate generalized lipodystrophies from anorexia nervosa. J Endocrinol Invest. 2024 Aug;47(8):1881-1886. doi: 10.1007/s40618-024-02308-3.


Cenni V, Evangelisti C, Santi S, Sabatelli P, Neri S, Cavallo M, Lattanzi G, Mattioli E. Desmin and Plectin Recruitment to the Nucleus and Nuclei Orientation Are Lost in Emery- Dreifuss Muscular Dystrophy Myoblasts Subjected to Mechanical Stimulation. Cells. 2024 Jan 16;13(2):162. doi: 10.3390/cells13020162. PMID: 38247853 Free PMC article.


Ceccarini G, Akinci B, Araujo-Vilar D, Beghini M, Brown RJ, Carrion Tudela J, Corradin V, Donadille B, Jerez Ruiz J, Jeru I, Lattanzi G, Maffei M, McIlroy GD, Nobécourt E, Perez de Tudela N, Rochford JJ, Sanders R, von Schnurbein J, Tews D, Vantyghem MC, Vatier C, Vigouroux C, Santini F. Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip), Pisa, Italy, 28-29 September 2023. Ann Endocrinol (Paris). 2024 Jul; 85(4): 308-316.  doi: 10.1016/j.ando.2024.03.002. Epub 2024 Mar 5. PMID: 38452868


Schena E, Mattioli E, Peres C, Zanotti L, Morselli P, Iozzo P, Guzzardi MA, Bernardini C, Forni M, Nesci S, Caprio M, Cecchetti C, Pagotto U, Gabusi E, Cattini L, Lisignoli G, Blalock W, Gambineri A, Lattanzi G. Mineralocorticoid Receptor Antagonism Prevents Type 2 Familial Partial Lipodystrophy Brown Adipocyte Dysfunction. Cells. 2023 Nov 7;12(22):2586. doi: 10.3390/cells12222586.


Maggi L, Quijano-Roy S, Bönnemann C, Bonne G; 253rd ENMC international workshop: Striated muscle laminopathies – natural history and clinical trial readiness. 24-26 June 2022, Hoofddorp, the Netherlands. Neuromuscul Disord. 2023;33(6):498-510. doi: 10.1016/j.nmd.2023.04.009. Epub 2023 Apr 25.PMID: 37235886 


Panicucci C, Casalini S, Traverso M, Brolatti N, Baratto S, Raffaghello L, Pedemonte M, Doglio L, Derchi M, Tasca G, Damasio BM, Fiorillo C, Bruno C. Early Muscle MRI Findings in a Pediatric Case of Emery-Dreifuss Muscular Dystrophy Type 1. Neuropediatrics. 2023 Dec;54(6):426-429. doi: 10.1055/s-0043-1768989. Epub 2023 May 31.PMID: 37257496 


Ben Yaou R, Yun P, Dabaj I, Norato G, Donkervoort S, Xiong H, Nascimento A, Maggi L, Sarkozy A, Monges S, Bertoli M, Komaki H, Mayer M, Mercuri E, Zanoteli E, Castiglioni C, Marini-Bettolo C, D’Amico A, Deconinck N, Desguerre I, Erazo-Torricelli R, Gurgel-Giannetti J, Ishiyama A, Kleinsteuber KS, Lagrue E, Laugel V, Mercier S, Messina S, Politano L, Ryan MM, Sabouraud P, Schara U, Siciliano G, Vercelli L, Voit T, Yoon G, Alvarez R, Muntoni F, Pierson TM, Gómez-Andrés D, Reghan Foley A, Quijano-Roy S, Bönnemann CG, Bonne G . International retrospective natural history study of LMNA-related congenital muscular dystrophy. Brain Commun. 2021 Apr 11;3(3):fcab075. doi: 10.1093/braincomms/fcab075.