Our current knowledge about the cellular mechanisms underlying serpin-related disorders, the serpinopathies, is predominantly based on studies in cell culture models of disease, particularly for alpha-1 antitrypsin (AAT, SERPINA1) deficiency causing emphysema and the familial encephalopathy with neuroserpin (NS, SERPINI1) inclusion bodies (FENIB). FENIB, a neurodegenerative dementia, is caused by polymerization of NS (Miranda and Lomas, Cell Mol Life Sci 63:709–722, 2006; Roussel BD et al., Epileptic Disor 18:103–110, 2016), while AAT deficiency presents as a result of several divergent mutations in the AAT gene that cause lack of protein synthesis or complete intracellular degradation (null variants) or polymer formation (polymerogenic variants) (Lomas et al., J Hepatol 65:413–424, 2016; Greene et al., Nat Rev Dis Primers 2:16051, 2016; Ferrarotti et al. Orphanet J Rare D 9:172, 2014). Both diseases have been extensively modeled in cell culture systems by expressing mutant variants in a variety of ways. Here we describe the methodologies we follow in our cell model systems used to examine serpin disorders.

Cellular models for the serpinopathies / Fra, Annamaria; D'Acunto, Emanuela; Laffranchi, Mattia; MIRANDA BANOS, MARIA ELENA. - (2018), pp. 109-121. - METHODS IN MOLECULAR BIOLOGY. [10.1007/978-1-4939-8645-3_7].

Cellular models for the serpinopathies

Emanuela D’Acunto;Maria Elena Miranda Banos
2018

Abstract

Our current knowledge about the cellular mechanisms underlying serpin-related disorders, the serpinopathies, is predominantly based on studies in cell culture models of disease, particularly for alpha-1 antitrypsin (AAT, SERPINA1) deficiency causing emphysema and the familial encephalopathy with neuroserpin (NS, SERPINI1) inclusion bodies (FENIB). FENIB, a neurodegenerative dementia, is caused by polymerization of NS (Miranda and Lomas, Cell Mol Life Sci 63:709–722, 2006; Roussel BD et al., Epileptic Disor 18:103–110, 2016), while AAT deficiency presents as a result of several divergent mutations in the AAT gene that cause lack of protein synthesis or complete intracellular degradation (null variants) or polymer formation (polymerogenic variants) (Lomas et al., J Hepatol 65:413–424, 2016; Greene et al., Nat Rev Dis Primers 2:16051, 2016; Ferrarotti et al. Orphanet J Rare D 9:172, 2014). Both diseases have been extensively modeled in cell culture systems by expressing mutant variants in a variety of ways. Here we describe the methodologies we follow in our cell model systems used to examine serpin disorders.
Methods in Molecular Biology
978-1-4939-8644-6
978-1-4939-8645-3
Antitrypsin; Cell culture; Cell lines; Cell transfection; Neuroserpin; Polyethylenimine (PEI); Serpin polymers; Molecular Biology; Genetics
02 Pubblicazione su volume::02a Capitolo, Articolo o Contributo
Cellular models for the serpinopathies / Fra, Annamaria; D'Acunto, Emanuela; Laffranchi, Mattia; MIRANDA BANOS, MARIA ELENA. - (2018), pp. 109-121. - METHODS IN MOLECULAR BIOLOGY. [10.1007/978-1-4939-8645-3_7].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1172708
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