Transthyretin familial amyloid polyneuropathy: an update
V Plante-Bordeneuve - Journal of neurology, 2018 - Springer
Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a progressive, fatal, inherited
disorder first identified in Portugal and now recognized in all continents. Over the past …
disorder first identified in Portugal and now recognized in all continents. Over the past …
Hereditary transthyretin amyloidosis: a comprehensive review with a focus on peripheral neuropathy
L Poli, B Labella, S Cotti Piccinelli, F Caria… - Frontiers in …, 2023 - frontiersin.org
Amyloidoses represent a group of diseases characterized by the pathological accumulation
in the extracellular area of insoluble misfolded protein material called “amyloid”. The …
in the extracellular area of insoluble misfolded protein material called “amyloid”. The …
Targeting transthyretin‐mechanism‐based treatment approaches and future perspectives in hereditary amyloidosis
MF Dohrn, S Ihne, U Hegenbart… - Journal of …, 2021 - Wiley Online Library
The liver‐derived, circulating transport protein transthyretin (TTR) is the cause of systemic
hereditary (ATTRv) and wild‐type (ATTRwt) amyloidosis. TTR stabilization and knockdown …
hereditary (ATTRv) and wild‐type (ATTRwt) amyloidosis. TTR stabilization and knockdown …
[HTML][HTML] Current and emerging therapies for hereditary transthyretin amyloidosis: strides towards a brighter future
L Obici, R Mussinelli - Neurotherapeutics, 2021 - Elsevier
The past few years have witnessed an unprecedented acceleration in the clinical
development of novel therapeutic options for hereditary transthyretin amyloidosis. Recently …
development of novel therapeutic options for hereditary transthyretin amyloidosis. Recently …
Epigenetic profiling of Italian patients identified methylation sites associated with hereditary transthyretin amyloidosis
A De Lillo, GA Pathak, F De Angelis, M Di Girolamo… - Clinical …, 2020 - Springer
Hereditary transthyretin (TTR) amyloidosis (hATTR) is a rare life-threatening disorder
caused by amyloidogenic coding mutations located in TTR gene. To understand the high …
caused by amyloidogenic coding mutations located in TTR gene. To understand the high …
Phenome-wide association study of TTR and RBP4 genes in 361,194 individuals reveals novel insights in the genetics of hereditary and wildtype transthyretin …
A De Lillo, F De Angelis, M Di Girolamo, M Luigetti… - Human Genetics, 2019 - Springer
Transthyretin (TTR) gene has a causal role in a hereditary form of amyloidosis (ATTRm) and
is potentially involved in the risk of wild-type transthyretin amyloidosis (ATTRwt). To …
is potentially involved in the risk of wild-type transthyretin amyloidosis (ATTRwt). To …
Transthyretin mutagenesis: impact on amyloidogenesis and disease
Transthyretin (TTR), a homotetrameric protein found in plasma, cerebrospinal fluid, and the
eye, plays a pivotal role in the onset of several amyloid diseases with high morbidity and …
eye, plays a pivotal role in the onset of several amyloid diseases with high morbidity and …
Hereditary Transthyretin Amyloidosis (hATTR) with Polyneuropathy Clusters Are Located in Ancient Mining Districts: A Possible Geochemical Origin of the Disease
PM Roos, SKTS Wärmländer - Biomolecules, 2024 - mdpi.com
Hereditary transthyretin amyloidosis (hATTR) with polyneuropathy (formerly known as
Familial Amyloid Polyneuropathy (FAP)) is an endemic amyloidosis involving the harmful …
Familial Amyloid Polyneuropathy (FAP)) is an endemic amyloidosis involving the harmful …
Hereditary transthyretin amyloidosis: a myriad of factors that influence phenotypic variability
E Carvalho, A Dias, T Coelho, A Sousa… - Journal of …, 2024 - Springer
Hereditary transthyretin-related amyloidosis (ATTRv amyloidosis) is a rare and progressively
debilitating disease characterized by the deposition of transthyretin (TTR) amyloid fibrils in …
debilitating disease characterized by the deposition of transthyretin (TTR) amyloid fibrils in …
Genetic infiltrative cardiomyopathies
ME Sweet, L Mestroni, MRG Taylor - Heart failure clinics, 2018 - heartfailure.theclinics.com
Infiltrative cardiomyopathies are characterized by abnormal deposition or accumulation of
substances in the heart. Essentially, these diseases have similarities and overlaps in …
substances in the heart. Essentially, these diseases have similarities and overlaps in …