Subcellular Pathology and Diagnostic - Prof. Cenacchi

Research Fields

The Subcellular Pathology and Diagnostic Group combines expertise in the fields of myopathology and neuropathology, ultrastructural pathology, cellular and molecular biology for the study of the pathogenetic mechanisms of rare neuromuscular diseases, with reference to limb girdle dystrophy D2 (LGMDD2).

The research activities are focused on the analysis of the pathogenic mechanisms of LGMDD2 and on the morpho-functional role of Transportin 3 in the development of this disease. The results obtained so far have led to the hypothesis of an altered differentiation of muscle fibers as a key element in the pathogenesis of LGMDD2. These results have suggested to deepen the study on myogenesis and muscle regeneration also using biocompatible scaffolds.

The methods used range from cell biology, with the development of 3D culture models on scaffolds, to molecular biology and protein expression analysis on cell models and human muscle tissue, up to morphological (particularly transmission electron microscopy) and immunophenotypic (immunofluorescence, immunohistochemistry) analyses.

Keywords

Neuropathology, Myopathology, Electron Microscopy, Muscle regeneration, Biocompatible scaffolds.

Research projects carried out at CRBA

Morphofunctional characterization of transportin 3 (TNPO3) in the pathogenesis of limb girdle muscular dystrophy D2 (LGMDD2).

Design of synthetic 3D scaffolds for skeletal muscle tissue differentiation.

Publications

Leggi dettagli

1. Costa R, Rodia MT, Pacilio S, Angelini C, Cenacchi G. LGMD D2 TNPO3-Related: From Clinical Spectrum to Pathogenetic Mechanism. Front Neurol. 2022 Mar 4;13:840683. doi: 10.3389/fneur.2022.840683. PMID: 35309568; PMCID: PMC8931187. IF 4.003

2. D'Angelo R, Boschetti E, Amore G, Costa R, Pugliese A, Caporali L, Gramegna LL, Papa V, Vizioli L, Capristo M, Contin M, Mohamed S, Cenacchi G, Lodi R, Morelli MC, Fasano L, Pisani L, Cescon M, Tonon C, Pinna AD, Dotti MT, Sicurelli F, Scarpelli M, Filosto M, Casali C, Pironi L, Carelli V, De Giorgio R, Rinaldi R. Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications. J Neurol. 2020 Dec;267(12):3702-3710. doi: 10.1007/s00415-020-10051-x. Epub 2020 Jul 18. PMID: 32683607. IF 4.849

3. Costa R, Rodia MT, Zini N, Pegoraro V, Marozzo R, Capanni C, Angelini C, Lattanzi G, Santi S, Cenacchi G. Morphological study of TNPO3 and SRSF1 interaction during myogenesis by combining confocal, structured illumination and electron microscopy analysis. Mol Cell Biochem. 2021 Apr;476(4):1797-1811. doi: 10.1007/s11010-020-04023-y. Epub 2021 Jan 15. PMID: 33452620. IF 2.795

4. Costa R, Rodia MT, Vianello S, Santi S, Lattanzi G, Angelini C, Pegoraro E, Cenacchi G. Transportin 3 (TNPO3) and related proteins in limb girdle muscular dystrophy D2 muscle biopsies: A morphological study and pathogenetic hypothesis. Neuromuscul Disord. 2020 Aug;30(8):685-692. doi: 10.1016/j.nmd.2020.05.006. Epub 2020 May 26. PMID: 32690349. IF 2.612

5. Cenacchi G, Papa V, Pegoraro V, Marozzo R, Fanin M, Angelini C. Review: Danon disease: Review of natural history and recent advances. Neuropathol Appl Neurobiol. Neuropathol Appl Neurobiol. 2020 Jun;46(4):303-322. doi: 10.1111/nan.12587. Epub 2019 Nov 25 IF 6.878

6. Cenacchi G, Papa V, Costa R, Pegoraro V, Marozzo R, Fanin M, Angelini C. Update on polyglucosan storage diseases. Virchows Arch. 2019 Dec;475(6):671-686. doi: 10.1007/s00428-019-02633-6. Epub 2019 Jul 30.IF. 2.868

7. Semplicini C, Bertolin C, Bello L, Pantic B, Guidolin F, Vianello S, Catapano F, Colombo I, Moggio M, Gavassini BF, Cenacchi G, Papa V, Previtero M, Calore C, Sorarù G, Minervini G, Tosatto SCE, Stramare R, Pegoraro E.The clinical spectrum of CASQ1-related myopathy. Neurology. 2018 Oct 23;91(17):e1629-e1641. IF 8.055

8. Morelli FF, Verbeek DS, Bertacchini J, Vinet J, Mediani L, Marmiroli S, Cenacchi G, Nasi M, De Biasi S, Brunsting JF, Lammerding J, Pegoraro E, Angelini C, Tupler R, Alberti S, Carra S. Aberrant Compartment Formation by HSPB2 Mislocalizes Lamin A and Compromises Nuclear Integrity and Function. Cell Rep. 2017 Aug 29;20(9):2100-2115. doi: 10.1016/j.celrep.2017.08.018 IF 8.282

9. De Giorgio R, Pironi L, Rinaldi R, Boschetti E, Caporali L, Capristo M, Casali C, Cenacchi G, Contin M, D'Angelo R, D'Errico A, Gramegna LL, Lodi R, Maresca A, Mohamed S, Morelli MC, Papa V, Tonon C, Tugnoli V, Carelli V, D'Alessandro R, Pinna AD. Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy. Ann Neurol. 2016 Sep;80(3):448-55. doi: 10.1002/ana.24724. Epub 2016 Aug 4. IF. 3.901

10. Jansen JC, Timal S, van Scherpenzeel M, Michelakakis H, Vicogne D, Ashikov A, Moraitou M, Hoischen A, Huijben K, Steenbergen G, van den Boogert MA, Porta F, Calvo PL, Mavrikou M, Cenacchi G, van den Bogaart G, Salomon J, Holleboom AG, Rodenburg RJ, Drenth JP, Huynen MA, Wevers RA, Morava E, Foulquier F, Veltman JA, Lefeber DJ. TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation. Am J Hum Genet. 2016 Feb 4;98(2):322-30. doi: 10.1016/j.ajhg.2015.12.011. Epub 2016 Jan 28 IF 11,202

Team Manager

Giovanna Cenacchi

Full professor

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Team

Maria Teresa Rodia

Research fellow

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Roberta Costa

Adjunct professor

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Serafina Pacilio

PhD

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Valentina Papa

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