Structural characterization of PHOX2B and its DNA interaction shed light on the molecular basis of the +7Ala variant pathogenicity in CCHS-Reference-Cited by-同舟云学术

Structural characterization of PHOX2B and its DNA interaction shed light on the molecular basis of the +7Ala variant pathogenicity in CCHS

Published:2024 Issue:23 Volume:15 Page:8858-8872
ISSN:2041-6520
Container-title:Chemical Science
language:en
Short-container-title:Chem. Sci.

Author:

Diana Donatella¹,Pirone Luciano¹,Russo Luigi²,D’Abrosca Gianluca³,Madheswaran Manoj²^ORCID,Benfante Roberta⁴⁵⁶,Di Lascio Simona⁴,Caldinelli Laura⁷,Fornasari Diego⁴,Acconcia Clementina²,Corvino Andrea²,Ventserova Nataliia²,Pollegioni Loredano⁷,Isernia Carla²^ORCID,Di Gaetano Sonia¹,Malgieri Gaetano²,Pedone Emilia M.¹^ORCID,Fattorusso Roberto²^ORCID

Affiliation:

1. CNR – Institute of Biostructures and Bioimaging, Via Pietro Castellino 111, 80131 Naples, Italy

2. Department of Environmental, Biological and Pharmaceutical Sciences and Technologies – University of Campania “Luigi Vanvitelli”, Via Vivaldi 43, 81100 Caserta, Italy

3. Department of Clinical and Experimental Medicine – University of Foggia, Viale Luigi Pinto, 71122 Foggia, Italy

4. Department of Medical Biotechnology and Translational Medicine (BIOMETRA), Università degli Studi di Milano, Milan, Italy

5. CNR – Institute of Neuroscience, Vedano Al Lambro (MB), Italy

6. NeuroMi – Milan Center for Neuroscience, University of Milano Bicocca, Milan, Italy

7. Department of Biotechnology and Life Sciences, University of Insubria, Via J.H. Dunant 3, 21100 Varese, Italy

Abstract

We report the NMR characterization of PHOX-20A and its interaction with DNA. The C-terminal tail bearing the polyAla sequence plays a key role in the formation of a homodimeric structure.

Funder

Ministero dell'Università e della Ricerca

Publisher

Royal Society of Chemistry (RSC)

Link

http://pubs.rsc.org/en/content/articlepdf/2024/SC/D3SC06427A

Reference63 articles.

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