Amyloidosis: Diagnosis, Treatment, Outcomes

Epigenetic profiling of Italian patients identified methylation sites associated with hereditary Transthyretin amyloidosis

The paper identifies methylation sites associated with hereditary Transthyretin amyloidosis through an epigenome-wide association study.

Transthyretin-stabilizing mutation T119M is not associated with protection against vascular disease or death in the UK Biobank

The paper investigates the association between the TTR T119M mutation and vascular disease or death in the UK Biobank, finding no significant protective effect.

Phenome-wide association study of TTR and RBP4 genes in 361,194 individuals reveals novel insights in the genetics of hereditary and senile systemic amyloidoses

This study identifies novel associations between TTR and RBP4 gene variants and multiple phenotypes related to hereditary and senile systemic amyloidoses in a large cohort.

AmyCo: the Amyloidoses Collection

AmyCo is a database classifying 74 amyloid-related diseases into amyloidosis and clinical conditions associated with amyloidosis, providing detailed annotations and references to external databases.

Assessment of the effects of transthyretin peptide inhibitors in Drosophila models of neuropathic ATTR

The paper evaluates peptide inhibitors in Drosophila models of neuropathic ATTR, finding TabFH2 most effective in improving motor function and reducing TTR deposition.

Molecular basis for a novel systemic form of human hereditary apoA-I amyloidosis with vision loss

The paper identifies a novel form of hereditary apoA-I amyloidosis caused by Glu34Lys mutation, revealing structural changes that lead to amyloid formation and vision loss.