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Repositioning tolcapone as a potent inhibitor of transthyretin amyloidogenesis and associated cellular toxicity.

Sant'Anna R1, Gallego P1, Robinson LZ2, Pereira-Henriques A3, Ferreira N3, Pinheiro F1, Esperante S1, Pallares I1, Huertas O4, Rosário Almeida M3, Reixach N2, Insa R4, Velazquez-Campoy A5,6,7,8, Reverter D1, Reig N4, Ventura S1.
Nature communications.Nat Commun.2016 Feb 23;7:10787. doi: 10.1038/ncomms10787.
Transthyretin (TTR) is a plasma homotetrameric protein implicated in fatal systemic amyloidoses. TTR tetramer dissociation precedes pathological TTR aggregation. Native state stabilizers are promising drugs to treat TTR amyloidoses. Here we repurpose tolcapone, an FDA-approved molecule for Parkinson
PMID 26902880

The Val142Ile transthyretin cardiac amyloidosis: not only an Afro-American pathogenic variant? A single-centre Italian experience.

Cappelli F1, Frusconi S, Bergesio F, Grifoni E, Fabbri A, Giuliani C, Falconi S, Bonifacio S, Perfetto F.
Journal of cardiovascular medicine (Hagerstown, Md.).J Cardiovasc Med (Hagerstown).2016 Feb;17(2):122-5. doi: 10.2459/JCM.0000000000000290.
Transthyterin amyloidosis is a life-threatening disorder caused by the deposition of hepatocyte-derived transthyretin (TTR) amyloid in various tissues and organs. The most common worldwide pathogenic variant with almost exclusive cardiac involvement is Val142Ile with an allele frequency of 3.5% in U
PMID 26428663

Effect of molecular chaperones on aberrant protein oligomers in vitro: super- versus sub-stoichiometric chaperone concentrations.

Cappelli S, Penco A, Mannini B, Cascella R, Wilson M, Ecroyd H, Li X, Buxbaum J, Dobson CM, Cecchi C, Relini A, Chiti F.
Biological chemistry.Biol Chem.2016 Jan 19. pii: /j/bchm.just-accepted/hsz-2015-0250/hsz-2015-0250.xml. doi: 10.1515/hsz-2015-0250. [Epub ahead of print]
Living systems protect themselves from aberrant proteins by a network of chaperones. We have tested in vitro the effects of different concentrations, ranging from 0 to 16 μM, of two molecular chaperones, namely αB-crystallin and clusterin, and an engineered monomeric variant of transthyretin (M-TT
PMID 26812789

宇田憲司,酒井竜一郎,出井里佳 [他],岩井克成,杢野謙次
日本内科学会雑誌 100(10), 3028-3030, 2011-10-10
症例は54歳，女性．両側足底のしびれ感で発症．4年後の入院時には，四肢遠位部優位の感覚運動障害，自律神経障害など認めた．末梢神経生検にてアミロイドの沈着を認め，家族性アミロイドポリニューロパチー（FAP）と診断した．遺伝子検査により，本邦では最初のトランスサイレチン，Thr49Ala変異であることが判明した．臨床像は既報告のフランス，イタリアの例に類似していた．
NAID 10030390336

安東由喜雄
臨床神経学 51(11), 1138-1141, 2011
トランスサイレチン（TTR）の遺伝子変異が原因となっておこる家族性アミロイドポリニューロパチー（FAP）は，血中異型TTRのほとんどが肝臓から産生されることから，これを抑制する目的で肝移植が広くおこなわれるようになった．移植後多くの症例でFAPの臨床進行が停止するか，遅延することが確認されているが，眼のアミロイド沈着は制御できない上，心症状やニューロパチーが進行する症例もある．われわれの施設でおこ …
NAID 130004504853

Comparative Expression of Proteins in Serum from Patients with Sinus Rhythm and Atrial Fibrillation

Zhao Y. Z.,Jia Y. H.,Li W. H.,Zhang S.
Journal of Arrhythmia 27(Supplement), YIAB_2-YIAB_2, 2011
… 13 differentially expressed proteins were successfully identified, of which, transthyretin Val30Met Variant was expressed significantly and constantly only in AF patients. … During atrial fibrillation, TTR or TTR variant may be involved in the maintenance of AF. …
NAID 130002129797