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An Asp to Asn mutation is a toxic trigger in beta-2 microglobulin: structure and biophysics

de Rosa, M; Halabelian, L; Barbiroli, A; Bolognesi, M; Bellotti, V; Ricagno, S; (2017) An Asp to Asn mutation is a toxic trigger in beta-2 microglobulin: structure and biophysics. Amyloid , 24 (sup1) pp. 15-16. 10.1080/13506129.2016.1272450. Green open access

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Abstract

Beta-2 microglobulin (β2m) is part of the Major Histocompatibility Complex Class I (MHC I) and when monomeric becomes an aggregation prone protein that is responsible for a human disorder known as dialysis-related amyloidosis. In 2012 Valleix et al. described a new familial systemic amyloidosis: an unreported β2m mutant (D76N) is the etiological agent of such disease. Main symptoms were chronic diarrhea, loss of weight and polyneuropathy: large amyloid deposits were found in internal organs. From the biophysical point of view, the D76N β2m is much less stable and more amyloidogenic than wt β2m; however, its crystal structure reveals very minor conformational changes compared with the wt protein

Type: Article
Title: An Asp to Asn mutation is a toxic trigger in beta-2 microglobulin: structure and biophysics
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1080/13506129.2016.1272450
Publisher version: http://doi.org/10.1080/13506129.2016.1272450
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Inflammation
URI: https://discovery.ucl.ac.uk/id/eprint/10067699
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