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

Azevedo EPC, Pereira HM, Garratt RC, Kelly JW, Foguel D, Palhano FL. Dissecting the structure, thermodynamic stability, and aggregation properties of the A25T transthyretin (A25T-TTR) variant involved in leptomeningeal amyloidosis: identifying protein partners that co-aggregate during A25T-TTR fibrillogenesis in cerebrospinal fluid. Biochemistry. 2011;50: 11070–11083. doi:10.1021/bi201365r
Llull L, Berenguer J, Yagüe J, Graus F. Leptomeningeal amyloidosis due to A25T TTR mutation: a case report. Neurologia. 2014;29: 382–384. doi:10.1016/j.nrl.2012.12.006
Sekijima Y, Hammarström P, Matsumura M, Shimizu Y, Iwata M, Tokuda T, et al. Energetic characteristics of the new transthyretin variant A25T may explain its atypical central nervous system pathology. Lab Invest. 2003;83: 409–417.
Azevedo EP, Ledo JH, Barbosa G, Sobrinho M, Diniz L, Fonseca ACC, et al. Activated microglia mediate synapse loss and short-term memory deficits in a mouse model of transthyretin-related oculoleptomeningeal amyloidosis. Cell Death & Disease. 2013;4: e789. doi:10.1038/cddis.2013.325

Loconte V, Menozzi I, Ferrari A, Folli C, Imbimbo BP, Zanotti G, et al. Structure-activity relationships of flurbiprofen analogues as stabilizers of the amyloidogenic protein transthyretin. Journal of Structural Biology. 2019; doi:10.1016/j.jsb.2019.08.011
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