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A novel substitution of proline (P32L) destabilises β2-microglobulin inducing hereditary systemic amyloidosis.
Prokaeva T, Joshi T, Klimtchuk ES, Gibson VM, Spencer B, Siddiqi O, Nedelkov D, Hu Y, Berk JL, Cuddy SAM, Dasari S, Chiu A, Choate LA, McPhail ED, Cui H, Chen H, Burks EJ, Sanchorawala V, Connors LH. Prokaeva T, et al. Among authors: cui h. Amyloid. 2022 Dec;29(4):255-262. doi: 10.1080/13506129.2022.2072199. Epub 2022 May 14. Amyloid. 2022. PMID: 35575118
Unusual duplication mutation in a surface loop of human transthyretin leads to an aggressive drug-resistant amyloid disease.
Klimtchuk ES, Prokaeva T, Frame NM, Abdullahi HA, Spencer B, Dasari S, Cui H, Berk JL, Kurtin PJ, Connors LH, Gursky O. Klimtchuk ES, et al. Among authors: cui h. Proc Natl Acad Sci U S A. 2018 Jul 10;115(28):E6428-E6436. doi: 10.1073/pnas.1802977115. Epub 2018 Jun 25. Proc Natl Acad Sci U S A. 2018. PMID: 29941560 Free PMC article.
Hereditary Renal Amyloidosis Associated With a Novel Apolipoprotein A-II Variant.
Prokaeva T, Akar H, Spencer B, Havasi A, Cui H, O'Hara CJ, Gursky O, Leszyk J, Steffen M, Browning S, Rosenberg A, Connors LH. Prokaeva T, et al. Among authors: cui h. Kidney Int Rep. 2017 Jul 29;2(6):1223-1232. doi: 10.1016/j.ekir.2017.07.009. eCollection 2017 Nov. Kidney Int Rep. 2017. PMID: 29270531 Free PMC article. No abstract available.
8,439 results