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Published in 2022 at "Der Nervenarzt"
DOI: 10.1007/s00115-022-01288-0
Abstract: Hereditary transthyretin-related amyloidosis (ATTRv) is a rare autosomal dominant disease and is fatal if left untreated. It is caused by mutations in the transthyretin gene. All known mutations induce misfolding of the tetrameric transthyretin molecule and…
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Keywords:
treatment;
transthyretin related;
hereditary transthyretin;
gene ... See more keywords
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Published in 2018 at "PLoS Genetics"
DOI: 10.1371/journal.pgen.1007125
Abstract: Oxidative stress is linked to many pathological conditions including the loss of dopaminergic neurons in Parkinson’s disease. The vast majority of disease cases appear to be caused by a combination of genetic mutations and environmental…
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Keywords:
protein;
transthyretin related;
ttr;
dopaminergic neurons ... See more keywords
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Published in 2023 at "Frontiers in Cardiovascular Medicine"
DOI: 10.3389/fcvm.2023.1151803
Abstract: Transthyretin related cardiac amyloidosis (TTR-CA) is an infiltrative cardiomyopathy that cause heart failure with preserved ejection fraction, mainly in aging people. Due to the introduction of a non invasive diagnostic algorithm, this disease, previously considered…
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Keywords:
transthyretin related;
cardiac amyloidosis;
risk stratification;
related cardiac ... See more keywords