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

Transthyretin (TTR) is a globular tetrameric transport protein in plasma. Nearly 140 single amino acid substitutions in TTR cause life-threatening amyloid disease. We report a one-of-a-kind pathological variant featuring a Glu51, Ser52 duplication mutation (Glu51_Ser52dup). The proband, heterozygous...

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Detalhes bibliográficos
Publicado no:Proc Natl Acad Sci U S A
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2018
Assuntos:
PNAS Plus
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6048550/
https://ncbi.nlm.nih.gov/pubmed/29941560
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1802977115
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