An additive destabilising effect of compound T60I and V122I substitutions in ATTRv amyloidosis.

Autor: Prokaeva, Tatiana¹ (AUTHOR), Klimtchuk, Elena S.¹ (AUTHOR), Feschenko, Polina¹ (AUTHOR), Spencer, Brian¹ (AUTHOR), Cui, Haili¹ (AUTHOR), Burks, Eric J.² (AUTHOR), Aslebagh, Roshanak^3,4 (AUTHOR), Muneeruddin, Khaja^3,4 (AUTHOR), Shaffer, Scott A.^3,4 (AUTHOR), Varghese, Elizabeth¹ (AUTHOR), Berk, John L.¹ (AUTHOR), Connors, Lawreen H.^1,2 (AUTHOR)

Publikováno v: Amyloid. Jun2023, Vol. 30 Issue 2, p141-152. 12p.

A novel substitution of proline (P32L) destabilises β2-microglobulin inducing hereditary systemic amyloidosis.

Autor: Prokaeva, Tatiana¹ (AUTHOR), Joshi, Tracy¹ (AUTHOR), Klimtchuk, Elena S.¹ (AUTHOR), Gibson, Victoria M.¹ (AUTHOR), Spencer, Brian¹ (AUTHOR), Siddiqi, Omar¹ (AUTHOR), Nedelkov, Dobrin² (AUTHOR), Hu, Yueming² (AUTHOR), Berk, John L.¹ (AUTHOR), Cuddy, Sarah A. M.³ (AUTHOR), Dasari, Surendra⁴ (AUTHOR), Chiu, April⁵ (AUTHOR), Choate, Lauren A.⁵ (AUTHOR), McPhail, Ellen D.⁵ (AUTHOR), Cui, Haili^1,6 (AUTHOR), Chen, Hui⁶ (AUTHOR), Burks, Eric J.⁶ (AUTHOR), Sanchorawala, Vaishali¹ (AUTHOR), Connors, Lawreen H.^1,6 (AUTHOR)

Publikováno v: Amyloid. Dec2022, Vol. 29 Issue 4, p255-262. 8p.

Unusual duplication mutation in a surface loop of human transthyretin leads to an aggressive drug-resistant amyloid disease

Autor: Klimtchuk, Elena S., Prokaeva, Tatiana, Frame, Nicholas M., Abdullahi, Hassan A., Spencer, Brian, Dasari, Surendra, Cui, Haili, Berk, John L., Kurtin, Paul J., Connors, Lawreen H., Gursky, Olga

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America, 2018 Jul 01. 115(28), E6428-E6436.

Externí odkaz: https://www.jstor.org/stable/26510924

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Hereditary gelsolin amyloidosis: a rare cause of cranial, peripheral and autonomic neuropathies linked to D187N and Y447H substitutions.

Autor: Mendelson, Lisa, Prokaeva, Tatiana, Lau, K. H. Vincent, Sanchorawala, Vaishali, McCausland, Kristen, Spencer, Brian, Dasari, Surendra, McPhail, Ellen D., Kaku, Michelle C.

Publikováno v: Amyloid; Dec2023, Vol. 30 Issue 4, p357-363, 7p