| Автор | BOOTH, D.R. |
| Автор | TAN, S.Y. |
| Автор | BOOTH, S.E. |
| Автор | HSUAN, J.J. |
| Автор | TOTTY, N.F. |
| Автор | NGUYEN, O. |
| Автор | HUTTON, T. |
| Автор | VIGUSHIN, D.M. |
| Автор | TENNENT, G.A. |
| Автор | HUTCHINSON, W.L. |
| Автор | THOMSON, N. |
| Автор | SOUTAR, A.K. |
| Автор | HAWKINS, P.N. |
| Автор | PEPYS, M.B. |
| Дата выпуска | 1995 |
| dc.description | A man with hereditary non-neuropathic systemic amyloidosis had amyloid fibril protein subunits consisting of N-terminal fragments (residues 1–86, 1–92 and 1–93) of a previously unknown variant of apolipoprotein Al, Trp50Arg, encoded by a thyminecytosine transition. This is the third reported amyloidogenic apoAl variant. All involve substitutions of single neutral amino acids by the cationic residue arginine, suggesting a common mechanism of amyloidogenesis. However, the phenotypic expression of these mutations varies both within and between the seven known families with hereditary apoAl amyloidosis. These findings should facilitate analysis of the molecular basis of fibrillogenesis and of factors that modulate amyloid deposition and its consequences in vivo. |
| Формат | application.pdf |
| Издатель | Oxford University Press |
| Копирайт | © Oxford university press |
| Тема | Original Papers |
| Название | A new apolipoprotein Al variant, Trp50Arg, causes hereditary amyloidosis |
| Тип | research-article |
| Electronic ISSN | 1464-3855 |
| Print ISSN | 0033-5614 |
| Журнал | Quarterly Journal of Mechanics and Applied Mathematics |
| Том | 88 |
| Первая страница | 695 |
| Последняя страница | 702 |
| Аффилиация | BOOTH D.R.; Immunological Medicine Unit, Department of Medicine, Royal Postgraduate Medical School, Hammersmith Hospital |
| Аффилиация | TAN S.Y.; Immunological Medicine Unit, Department of Medicine, Royal Postgraduate Medical School, Hammersmith Hospital |
| Аффилиация | BOOTH S.E.; Immunological Medicine Unit, Department of Medicine, Royal Postgraduate Medical School, Hammersmith Hospital |
| Аффилиация | HSUAN J.J.; Ludwig Institute for Cancer Research, University College London School of Medicine |
| Аффилиация | TOTTY N.F.; Ludwig Institute for Cancer Research, University College London School of Medicine |
| Аффилиация | NGUYEN O.; Ludwig Institute for Cancer Research, University College London School of Medicine |
| Аффилиация | HUTTON T.; Fisons VG BioTech, Altrincham |
| Аффилиация | VIGUSHIN D.M.; Immunological Medicine Unit, Department of Medicine, Royal Postgraduate Medical School, Hammersmith Hospital |
| Аффилиация | TENNENT G.A.; Immunological Medicine Unit, Department of Medicine, Royal Postgraduate Medical School, Hammersmith Hospital |
| Аффилиация | HUTCHINSON W.L.; Immunological Medicine Unit, Department of Medicine, Royal Postgraduate Medical School, Hammersmith Hospital |
| Аффилиация | THOMSON N.; Department of Medicine, Monash University |
| Аффилиация | SOUTAR A.K.; MRC Lipoprotein Team, Department of Medicine, Royal Postgraduate Medical School, Hammersmith Hospital |
| Аффилиация | HAWKINS P.N.; Immunological Medicine Unit, Department of Medicine, Royal Postgraduate Medical School, Hammersmith Hospital |
| Аффилиация | PEPYS M.B.; Immunological Medicine Unit, Department of Medicine, Royal Postgraduate Medical School, Hammersmith Hospital |
| Выпуск | 10 |
