http://www.cnr.it/ontology/cnr/individuo/prodotto/ID191180

Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution. (Articolo in rivista)

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Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution. (Articolo in rivista) (literal)

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Alternative label

Capanni C, Squarzoni S, Cenni V, D'Apice MR, Gambineri A, Novelli G, Wehnert M, Pasquali R, Maraldi NM, Lattanzi G. (2012)
Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution.
in Cell cycle (Georget. Tex.)
(literal)

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Capanni C, Squarzoni S, Cenni V, D'Apice MR, Gambineri A, Novelli G, Wehnert M, Pasquali R, Maraldi NM, Lattanzi G. (literal)

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1CNR-National Research Council of Italy; Institute of Molecular Genetics; Unit of Bologna-IOR; Bologna, Italy; 2Laboratory of Medical Genetics; University of Rome tor Vergata; Rome, Italy; 3Division of endocrinology; Department of Clinical Medicine; S. Orsola-Malpighi Hospital; University of Bologna; Bologna, Italy; 4National Agency for the evaluation of Universities and Research (ANVUR) and San pietro Fatebenefratelli Hospital; Rome, Italy; 5Institute of Human Genetics; University of Greifswald; Greifswald, Germany; 6Laboratory of Musculoskeletal Cell Biology; IOR; Bologna, Italy (literal)

Titolo

Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution. (literal)

Abstract

Prelamin A processing impairment is a common feature of a restricted group of rare genetic alterations/disorders associated with a wide range of clinical phenotypes. Changes in histone posttranslational modifications, alterations in non-histone chromatin proteins and chromatin disorganization have been specifically linked to impairment of specific, distinct prelamin A processing steps, but the molecular mechanism involved in these processes is not yet understood . In this study, we show that the accumulation of wild-type prelamin A detected in restrictive dermopathy (RD), as well as the accumulation of mutated forms of prelamin A identified in familial partial lipodystrophy (FPLD) and mandibuloacral dysplasia (MADA), affect the nuclear localization of barrier-to-autointegration factor (BAF), a protein able to link lamin A precursor to chromatin remodeling functions. Our findings, in accordance with previously described results, support the hypothesis of a prelamin A involvement in BAF nuclear recruitment and suggest BAF-prelamin A complex as a protein platform usually activated in prelamin A-accumulating diseases. Finally, we demonstrate the involvement of the inner nuclear membrane protein emerin in the proper localization of BAF-prelamin A complex. (literal)

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