Felix J. Tsai
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View article: Clinical and Biochemical Characterization of Hereditary ATTR Amyloidosis Caused by a Novel Transthyretin Variant V121A (p.V141A)
Clinical and Biochemical Characterization of Hereditary ATTR Amyloidosis Caused by a Novel Transthyretin Variant V121A (p.V141A) Open
Over 150 transthyretin (TTR) mutations have been identified in hereditary transthyretin (ATTRv) amyloidosis, and new TTR variants have recently emerged. However, the pathogenicity of several new variants remains unclear, making it importan…
View article: The conformational landscape of human transthyretin revealed by cryo-EM
The conformational landscape of human transthyretin revealed by cryo-EM Open
View article: The conformational landscape of human transthyretin revealed by cryo-EM
The conformational landscape of human transthyretin revealed by cryo-EM Open
Transthyretin (TTR) is a natively tetrameric thyroxine transporter found in blood and cerebrospinal fluid whose misfolding and aggregation causes transthyretin amyloidosis. A rational drug design campaign identified the small molecule tafa…
View article: Tafamidis concentration required for transthyretin stabilisation in cerebrospinal fluid
Tafamidis concentration required for transthyretin stabilisation in cerebrospinal fluid Open
Tafamidis stabilises TTR in CSF to what is likely a clinically meaningful extent at CSF concentrations achieved by the normal tafamidis dosing regimen.
View article: Characterising diflunisal as a transthyretin kinetic stabilizer at relevant concentrations in human plasma using subunit exchange
Characterising diflunisal as a transthyretin kinetic stabilizer at relevant concentrations in human plasma using subunit exchange Open
Transthyretin (TTR) dissociation is the rate limiting step for both aggregation and subunit exchange. Kinetic stabilisers, small molecules that bind to the native tetrameric structure of TTR, slow TTR dissociation and inhibit aggregation. …
View article: Analysis of lumbar spine stenosis specimens for identification of amyloid
Analysis of lumbar spine stenosis specimens for identification of amyloid Open
Background Lumbar spinal stenosis (LSS) is a common reason for spine surgery in which ligamentum flavum is resected. Transthyretin (TTR) amyloid is an often unrecognized and potentially modifiable mechanism for LSS that can also cause TTR …