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)	No effect

Jacobson DR, McFarlin DE, Kane I, and Buxbaum JN. (1992). Transthyretin Pro55, a variant associated with early-onset, aggressive diffuse amyloidosis with cardiac and neurologic involvement. Hum Genet. 89:353-356.
McCutchen SL, Colon W, and Kelly JW. (1993). Transthyretin mutation Leu-55-Pro significantly alters tetramer stability and increases amyloidogenicity. 32:12119-12127.
Yamamoto K, Hsu SP, Yoshida K, Ikeda S, Nakazato, Shiomi K, Cheng SY, Furihata K, Ueno I, and Yanagisawa N. (1994). Familial amyloid polyneuropathy in Taiwan: Identification of transthyretin variant (Leu55 to Pro) Muscle – Nerve. 17:637-641.
Almeida MR, and Saraiva MJ. (1996). Thyroxine binding to transthyretin (TTR) variants — two variants (TTR Pro 55 and TTR Met 111) with a particularly low binding affinity. Eur J Endocrinol. 135:226-230.
Chou CT, Lee CC, Chang DM, Buxbaum JN, and Jacobson DR. (1997). Familial amyloidosis in one Chinese family: clinical, immunological, and molecular genetic analysis. J Intern Med. 241:327-331.
Quintas A, Saraiva MJM, and Brito RMM. (1997). The amyloidogenic potential of transthyretin variants correlates with their tendency to aggregate in solution. FEBS Letters. 418:297-300.
Sebastiao MP, Saraiva MJ, and Damas AM. (1998). The crystal structure of amyloidogenic Leu55–>Pro transthyretin variant reveals a possible pathway for transthyretin polymerization into amyloid fibrils. J Biol Chem. 273:24715-24722.

Cardoso I, Merlini G, Saraiva MJ. 4’-iodo-4’-deoxydoxorubicin and tetracyclines disrupt transthyretin amyloid fibrils in vitro producing noncytotoxic species: screening for TTR fibril disrupters. FASEB J. 2003;17: 803–809. doi:10.1096/fj.02-0764com

*includes studies on model organisms and commercially unavailable drugs