A simple core dataset and disease severity score for hereditary transthyretin (ATTRv) amyloidosis

T Damy, I Conceição, P García-Pavía, J Gillmore… - Amyloid, 2021 - Taylor & Francis
Abstract Background Hereditary transthyretin (ATTRv) amyloidosis is a progressive
multisystemic disease of adult-onset that arises from an inherited mutation in the …

Oligomerization profile of human transthyretin variants with distinct amyloidogenicity

A Frangolho, BE Correia, DC Vaz, ZL Almeida… - Molecules, 2020 - mdpi.com
One of the molecular hallmarks of amyloidoses is ordered protein aggregation involving the
initial formation of soluble protein oligomers that eventually grow into insoluble fibrils. The …

Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update

A Dispenzieri, T Coelho, I Conceição… - Orphanet journal of rare …, 2022 - Springer
Background Transthyretin amyloidosis (ATTR amyloidosis) is a rare, life-threatening disease
caused by the accumulation of variant or wild-type (ATTRwt amyloidosis) transthyretin …

Expert opinion on monitoring symptomatic hereditary transthyretin-mediated amyloidosis and assessment of disease progression

D Adams, V Algalarrondo, M Polydefkis… - Orphanet journal of rare …, 2021 - Springer
Background Hereditary transthyretin-mediated amyloidosis, also known as ATTRv
amyloidosis (v for variant), is a rare, autosomal dominant, fatal disease, in which systemic …

A novel monoclonal antibody targeting aggregated transthyretin facilitates its removal and functional recovery in an experimental model

J George, M Rappaport, S Shimoni… - European Heart …, 2020 - academic.oup.com
Aims Cardiac amyloidosis typically manifests as heart failure with preserved left ventricular
function due to extracellular plaques comprising aggregated TTR. Despite recent success in …

Disease-specific biomarkers in transthyretin cardiac amyloidosis

NS Hendren, LR Roth, JL Grodin - Current heart failure reports, 2020 - Springer
Abstract Purpose of Review Transthyretin amyloidosis is an increasingly recognized cause
of restrictive cardiomyopathy related to amyloid fibril deposition in cardiac tissues. As …

[HTML][HTML] Inotersen to treat polyneuropathy associated with hereditary transthyretin (hATTR) amyloidosis

C Robinson, C Pham, AM Zamarripa… - Health psychology …, 2022 - ncbi.nlm.nih.gov
Background Amyloidosis is a group of diseases with the common pathophysiology of protein
misfolding and aberrant deposition in tissue. There are both acquired and hereditary forms …

Advances in the treatment of transthyretin cardiac amyloidosis: current and emerging therapies

AL Warner - … : The Journal of Human Pharmacology and Drug …, 2021 - Wiley Online Library
Transthyretin cardiac amyloidosis (ATTR‐CA) has been recognized as an underdiagnosed
and undertreated cause of heart failure with often unrecognized multiorgan involvement …

Chance or challenge, spoilt for choice? New recommendations on diagnostic and therapeutic considerations in hereditary transthyretin amyloidosis with …

MF Dohrn, M Auer-Grumbach, R Baron, F Birklein… - Journal of …, 2021 - Springer
Hereditary transthyretin amyloidosis is caused by pathogenic variants (ATTR v) in the TTR
gene. Alongside cardiac dysfunction, the disease typically manifests with a severely …

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 …