Affiliation: Unit of Bologna
- The empowerment of translational research: lessons from laminopathiesSara Benedetti
National Research Council of Italy, Institute of Molecular Genetics, IGM CNR, Unit of Bologna, Via Di Barbiano 1 10, 40136, Bologna, Italy
Orphanet J Rare Dis 7:37. 2012....
- Expression of collagen VI α5 and α6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosisPatrizia Sabatelli
CNR National Research Council of Italy, Institute of Molecular Genetics IOR, Bologna, Italy
Matrix Biol 31:187-96. 2012..While the α5 chain may have a specialized function in tissue areas subjected to tensile stress, the α6 chain appears implicated in ECM remodeling during muscle fibrosis...
- Emerin increase in regenerating muscle fibersS Squarzoni
ITOI CNR, Unit of Bologna c o Istituti Ortopedici Rizzoli, Bologna, Italy
Eur J Histochem 49:355-62. 2005..The impairment of skeletal muscle physiological regeneration or reorganization could be a possible pathogenetic mechanism for Emery Dreifuss muscular dystrophy...
- Immunocytochemical detection of emerin within the nuclear matrixS Squarzoni
Istituto Citomorfologia N P CNR, Bologna, Italy
Neuromuscul Disord 8:338-44. 1998..This suggests a tight binding between emerin and the nuclear lamina independently from the interactions between the C-terminal hydrophobic domain of the protein and the inner nuclear membrane...
- Emerin presence in plateletsS Squarzoni
Ist Citomorfologia N P CNR, IOR, Bologna, Italy
Acta Neuropathol 100:291-8. 2000..We found also that emerin is present in the cytoplasm of megakaryocytes, while it is absent in circulating granulocytes...
- Prelamin A-mediated recruitment of SUN1 to the nuclear envelope directs nuclear positioning in human muscleE Mattioli
Institute for Molecular Genetics, IGM CNR, Unit of Bologna, Bologna, Italy
Cell Death Differ 18:1305-15. 2011..These results demonstrate that the interplay between SUN1 and farnesylated prelamin A contributes to nuclear positioning in human myofibers and may be implicated in pathogenetic mechanisms...
- Immunocytochemistry of nuclear domains and Emery-Dreifuss muscular dystrophy pathophysiologyN M Maraldi
Laboratory of Cell Biology and Electron Microscopy, IOR, Bologna, Italy
Eur J Histochem 47:3-16. 2003..The possibility that Emery-Deifuss muscular dystrophy pathogenesis could involve alteration of the signaling pathway is considered...
- Autophagic degradation of farnesylated prelamin A as a therapeutic approach to lamin-linked progeriaV Cenni
National Research Council of Italy, Institute of Molecular Genetics, IGM CNR, Unit of Bologna IOR, Bologna, Italy
Eur J Histochem 55:e36. 2011....
- Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophyV Cenni
ITOI, CNR, Unit of Bologna, c o IOR, Bologna, Italy
J Med Genet 42:214-20. 2005..A molecular complex in muscle cells formed by lamin A/C, emerin, and nuclear actin has been identified. The stability of this protein complex appears to be related to phosphorylation mechanisms...
- Staurosporine treatment and serum starvation promote the cleavage of emerin in cultured mouse myoblasts: involvement of a caspase-dependent mechanismM Columbaro
Laboratory of Neuromuscular Pathology, IOR, Bologna, Italy
FEBS Lett 509:423-9. 2001....
- Functional domains of the nucleus: implications for Emery-Dreifuss muscular dystrophyN M Maraldi
Laboratory of Cell Biology and Electron Microscopy, Istituto Ortopedici Rizzoli, CNR, Via Di Barbiano 1 10, 40139, Bologna, Italy
Neuromuscul Disord 12:815-23. 2002....
- Rescue of heterochromatin organization in Hutchinson-Gilford progeria by drug treatmentM Columbaro
Laboratory of Cell Biology, Istituti Ortopedici Rizzoli, Bologna, Italy
Cell Mol Life Sci 62:2669-78. 2005..These results suggest that morpho-functional defects of HGPS nuclei are directly related to progerin accumulation and can be rectified by drug treatment...
- Increase of neuronal nitric oxide synthase in rat skeletal muscle during ageingC Capanni
Dipartimento di Biochimica G Moruzzi Università di Bologna, Bologna, Italy
Biochem Biophys Res Commun 245:216-9. 1998..We report that in aged rats the nNOS amount in skeletal muscle increases both in the soluble and microsomal fractions and that an additional intracytoplasmic localisation appears...
- Critical evaluation of the use of cell cultures for inclusion in clinical trials of patients affected by collagen VI myopathiesP Sabatelli
CNR National Research Council of Italy, Institute of Molecular Genetics c o IOR, Bologna, Italy
J Cell Physiol 227:2927-35. 2012....
- Emerin expression at the early stages of myogenic differentiationG Lattanzi
Istituto di Citomorfologia Normale e Patologica CNR, via di Barbiano 1 10 40136 Bologna, Italy
Differentiation 66:208-17. 2000..These data suggest a role for emerin during proliferation of activated satellite cells and at the early stages of differentiation...
- Nuclear envelope proteins and chromatin arrangement: a pathogenic mechanism for laminopathiesN M Maraldi
Istituto per i Trapianti d Organo e l Immunocitologia ITOI C N R, Unit of Bologna, via di Barbiano 1 10 c o IOR 40136 Bologna, Italy
Eur J Histochem 50:1-8. 2006..Our results further show that the absence of emerin expression alters the distribution of pre-lamin A and of heterochromatin areas, suggesting a major involvement of emerin in pre-lamin A-mediated mechanisms of chromatin remodeling...
- Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathiesF Tagliavini
CNR National Research Council of Italy, Institute of Molecular Genetics, Bologna, Italy SC Laboratory of Musculoskeletal Cell Biology, IOR, Bologna, Italy
Biochim Biophys Acta 1842:1604-12. 2014..The defect of the α6 chain points to a contribution to the pathogenesis of collagen VI-related disorders. ..
- Intracellular detection of laminin alpha 2 chain in skin by electron microscopy immunocytochemistry: comparison between normal and laminin alpha 2 chain deficient subjectsS Squarzoni
Istituto di Citomorfologia N P CNR, Bologna, Italy
Neuromuscul Disord 7:91-8. 1997..These data suggest that the function of the laminin alpha 2 chain is different in the epidermis as compared to that in muscle and peripheral nerve, where it is localized in the basement membrane...
- Nuclear alterations in autosomal-dominant Emery-Dreifuss muscular dystrophyP Sabatelli
Istituto di Citomorfologia, Consiglio Nazionale delle Ricerche, via Di Barbiano 1/10 c/o Istituti Ortopedici Rizzoli, 40136 Bologna, Italy
Muscle Nerve 24:826-9. 2001....
- Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophyL Cartegni
Institute of Genetics, Biochemistry and Evolution CNR, via Abbiategrasso 207, 27100 Pavia, Italy
Hum Mol Genet 6:2257-64. 1997..In heart its specific localization to desmosomes and fasciae adherentes could account for the characteristic conduction defects described in patients...
- Autosomal recessive myosclerosis myopathy is a collagen VI disorderL Merlini
Department of Experimental and Diagnostic Medicine, University of Ferrara, Italy
Neurology 71:1245-53. 2008..To determine the clinical and molecular features of a new phenotype related to collagen VI myopathies...
- 98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE. 26-28th October, 2001, Naarden, The NetherlandsF Muntoni
Department of Paediatrics, Hammersmith Hospital, London, UK
Neuromuscul Disord 12:889-96. 2002