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Characterization of Novel Alpha-1-Antitrypsin Coding Variants in a Mammalian Cellular Model

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Alpha-1 Antitrypsin

Part of the book series: Methods in Molecular Biology ((MIMB,volume 2750))

Abstract

Advances in genetic screening technologies have considerably accelerated the discovery of rare alpha-1-antitrypsin (AAT) variants. Expression in cellular models is an effective approach to evaluate the pathogenic potential of these new AAT variants, whose clinical significance would otherwise remain uncertain. Here we provide a detailed description of established methods for in vitro characterization of AAT coding variants expressed in HEK293T/17 cells. The protocols include determination of secretion efficiency, the tendency to form polymeric chains and  the anti-elastase inhibitory activity.

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Acknowledgments

This work was supported by an Alpha-1 Foundation grant to AF (ID: 829920).

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Authors and Affiliations

  1. Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy

    Andrea Denardo, Emna Ben Khlifa, Mattia Bignotti & Annamaria Fra

Authors
  1. Andrea Denardo
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  2. Emna Ben Khlifa
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  3. Mattia Bignotti
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  4. Annamaria Fra
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Corresponding author

Correspondence to Annamaria Fra .

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Editors and Affiliations

  1. Alpha-1 Biologics, Long Island High Technology Incubator, Stony Brook University, Stony Brook, NY, USA

    Cynthia L. Bristow

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© 2024 The Author(s), under exclusive license to Springer Science+Business Media, LLC, part of Springer Nature

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Denardo, A., Ben Khlifa, E., Bignotti, M., Fra, A. (2024). Characterization of Novel Alpha-1-Antitrypsin Coding Variants in a Mammalian Cellular Model. In: Bristow, C.L. (eds) Alpha-1 Antitrypsin. Methods in Molecular Biology, vol 2750. Humana, New York, NY. https://doi.org/10.1007/978-1-0716-3605-3_8

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  • DOI: https://doi.org/10.1007/978-1-0716-3605-3_8

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  • Publisher Name: Humana, New York, NY

  • Print ISBN: 978-1-0716-3604-6

  • Online ISBN: 978-1-0716-3605-3

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