[HTML][HTML] Optimal practices for the management of hereditary transthyretin amyloidosis: real-world experience from Japan, Brazil, and Portugal
Y Ando, M Waddington-Cruz, Y Sekijima… - Orphanet Journal of …, 2023 - Springer
Hereditary transthyretin (ATTRv) amyloidosis is a rare and autosomal dominant disorder
associated with mutations in the transthyretin gene. Patients present with diverse symptoms …
associated with mutations in the transthyretin gene. Patients present with diverse symptoms …
[HTML][HTML] Avoiding misdiagnosis: expert consensus recommendations for the suspicion and diagnosis of transthyretin amyloidosis for the general practitioner
Background Transthyretin amyloidosis (also known as ATTR amyloidosis) is a systemic, life-
threatening disease characterized by transthyretin (TTR) fibril deposition in organs and …
threatening disease characterized by transthyretin (TTR) fibril deposition in organs and …
[HTML][HTML] Peripheral blood cell gene expression diagnostic for identifying symptomatic transthyretin amyloidosis patients: male and female specific signatures
SM Kurian, M Novais, T Whisenant, T Gelbart… - Theranostics, 2016 - ncbi.nlm.nih.gov
Background: Early diagnosis of familial transthyretin (TTR) amyloid diseases remains
challenging because of variable disease penetrance. Currently, patients must have an …
challenging because of variable disease penetrance. Currently, patients must have an …
Quantitative analysis of post-translational modifications in human serum transthyretin associated with familial amyloidotic polyneuropathy by targeted LC–MS and …
M Vilà-Rico, N Colomé-Calls, L Martín-Castel… - Journal of …, 2015 - Elsevier
Transthyretin (TTR) is an amyloidogenic tetrameric protein, present in human plasma,
associated with several familial amyloidoses. Variability of TTR is not only due to point …
associated with several familial amyloidoses. Variability of TTR is not only due to point …
Clinical development of an antisense therapy for the treatment of transthyretin-associated polyneuropathy
EJ Ackermann, S Guo, S Booten, L Alvarado… - Amyloid, 2012 - Taylor & Francis
Transthyretin (TTR)-associated amyloidosis is a late-onset autosomal-dominant genetic
disease. Over 100 amyloidogenic mutations have been identified in TTR which destabilize …
disease. Over 100 amyloidogenic mutations have been identified in TTR which destabilize …
Advances in the diagnosis and treatment of transthyretin amyloidosis with cardiac involvement
AG Rigopoulos, M Ali, E Abate, AR Torky… - Heart Failure …, 2019 - Springer
Amyloidosis is caused by extracellular deposition of insoluble abnormal fibrils constituted by
misfolded proteins, which can modify tissue anatomy and hinder the function of multiple …
misfolded proteins, which can modify tissue anatomy and hinder the function of multiple …
Cellular secretion and cytotoxicity of transthyretin mutant proteins underlie late-onset amyloidosis and neurodegeneration
RB Ibrahim, SY Yeh, KP Lin, F Ricardo, TY Yu… - Cellular and Molecular …, 2020 - Springer
Transthyretin amyloidosis (ATTR) is a progressive life-threatening disease characterized by
the deposition of transthyretin (TTR) amyloid fibrils. Several pathogenic variants have been …
the deposition of transthyretin (TTR) amyloid fibrils. Several pathogenic variants have been …
[HTML][HTML] Monitoring of asymptomatic family members at risk of hereditary transthyretin amyloidosis for early intervention with disease-modifying therapies
M Ueda, Y Sekijima, H Koike, T Yamashita… - Journal of the …, 2020 - Elsevier
Abstract Background Hereditary transthyretin (ATTRv) amyloidosis is an adult-onset,
systemic disorder caused by mutations in the transthyretin (TTR) gene. As ATTRv …
systemic disorder caused by mutations in the transthyretin (TTR) gene. As ATTRv …
Effect of age and sex differences on wild-type transthyretin amyloid formation in familial amyloidotic polyneuropathy: a proteomic approach
M Tasaki, M Ueda, K Obayashi, H Koike… - International journal of …, 2013 - Elsevier
Background Age and sex differences are closely related to the onset of senile systemic
amyloidosis (SSA) caused by wild-type (WT) transthyretin (TTR). However, the effects of …
amyloidosis (SSA) caused by wild-type (WT) transthyretin (TTR). However, the effects of …
[HTML][HTML] A cell-based high-throughput screening method to directly examine transthyretin amyloid fibril formation at neutral pH
M Ueda, M Okada, M Mizuguchi… - Journal of Biological …, 2019 - ASBMB
Transthyretin (TTR) is a major amyloidogenic protein associated with hereditary (ATTRm)
and nonhereditary (ATTRwt) intractable systemic transthyretin amyloidosis. The pathological …
and nonhereditary (ATTRwt) intractable systemic transthyretin amyloidosis. The pathological …