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.
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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 > 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-pp.ucl.ac.uk/id/eprint/10067699 |
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