TTRMDb

An amyloid disease database for transthyretin mutants

Sequence

Analysis Tool	Result
TANGO (Aggregation Tendency)	No effect
WALTZ (Amyloid Propensity)	No effect
LIMBO (Chaperone Binding Tendency)	Decreases

Nakazato M, Ikeda S, Shiomi K, Matsukura S, Yoshida K, Shimizu H, Atsumi T, Kangawa K, and Matsuo H. (1992). Identification of a novel transthyretin variant (Val30 to Leu) associated with familial amyloidotic polyneuropathy. FEBS Lett. 306:206-208.
Murakami T, Atsumi T, Maeda S, Tanase S, Ishikawa K, Mita A, Kumamoto T, Araki S, and Ando M. (1992). A novel transthyretin mutation at position 30 (Leu for Val) associated with familial amyloidotic polyneuropathy. Biochem Biophys Res Commun. 187:397-403.
Utsugisawa K, Tohgi H, Nagane Y, Yamagata M, Saito K and Mihara M. (1998). Familial amyloid polyneuropathy related to transthyretin mutation Val30 to Leu in a Japanese family. Muscle Nerve. 21:1783-1785.
Tachibana N, Tokuda T, Yoshida K, Taketomi T, Nakazato M, Li YF, Masuda Y, and Ikeda S. (1999). Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy. Amyloid. 6:282-8.
Yazaki M, Tokuda T, Nakamura A, Higashikata T, Koyama J, Higuchi K, Harihara Y, Baba S, Kametani F, and Ikeda S. (2000). Cardiac amyloid in patiants with familial amyloid polyneuropathy consists of abundant wild-type transthyretin. Biochem Biophys Res Commun. 274:702-706.

Tojo K, Sekijima Y, Kelly JW, Ikeda S. Diflunisal stabilizes familial amyloid polyneuropathy-associated transthyretin variant tetramers in serum against dissociation required for amyloidogenesis. Neuroscience Research. 2006;56: 441–449. doi:10.1016/j.neures.2006.08.014

*includes studies on model organisms and commercially unavailable drugs