Associated Papers
Integrative structural profiling and ligand optimisation across the transthyretin mutational landscape.
Lomoio U et al.
Npj Systems Biology and Applications, 2025
Effect of G83R Mutation on Transthyretin Protein Structural Stability.
Chen X et al.
Acs Omega, 2025
A Multicenter Study of Hereditary Transthyretin Amyloidosis in China.
Chu X et al.
Annals of Neurology, 2025
Secretion of transthyretin: molecular mechanisms dependent on the endoplasmic reticulum.
Meng J et al.
Frontiers in Physiology, 2025
Transthyretin mutagenesis: impact on amyloidogenesis and disease.
Almeida ZL et al.
Critical Reviews in Clinical Laboratory Sciences, 2024
Hereditary transthyretin cardiac amyloidosis proven by endomyocardial biopsy: a single-centre retrospective study and literature review.
Yu TP et al.
Acta Cardiologica, 2024
The Gly103Arg variant in hereditary transthyretin amyloidosis.
Xiong Y et al.
Frontiers in Neurology, 2024
The genetic and clinical spectrum in a cohort of 39 families with complex inherited peripheral neuropathies.
Wang M et al.
Journal of Neurology, 2023
The Regulatory Mechanism of Transthyretin Irreversible Aggregation through Liquid-to-Solid Phase Transition.
Duan G et al.
International Journal of Molecular Sciences, 2023
Clinical phenotypes and genetic features of hereditary transthyretin amyloidosis patients in China.
He X et al.
Orphanet Journal of Rare Diseases, 2022
Functional characterization of variants of unknown significance in a spinocerebellar ataxia patient using an unsupervised machine learning pipeline.
Nath S et al.
Human Genome Variation, 2022
Disease-associated mutations impacting BC-loop flexibility trigger long-range transthyretin tetramer destabilization and aggregation.
Esperante SA et al.
The Journal of Biological Chemistry, 2021
Hereditary transthyretin amyloidosis in mainland China: a unicentric retrospective study.
Du K et al.
Annals of Clinical and Translational Neurology, 2021
Amyloidosis and Ocular Involvement: an Overview.
Dammacco R et al.
Seminars in Ophthalmology, 2020
New sequence variants in patients affected by amyloidosis show transthyretin instability by isoelectric focusing.
Hinderhofer K et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2019
Hereditary transthyretin amyloidosis: baseline characteristics of patients in the NEURO-TTR trial.
Waddington-Cruz M et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2018
A mouse model of a novel missense mutation (Gly83Arg) in a Chinese kindred manifesting vitreous amyloidosis only.
Ran LX et al.
Experimental Eye Research, 2018
Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis.
Iorio A et al.
Bmc Genomics, 2017
Mechanism of Action and Clinical Application of Tafamidis in Hereditary Transthyretin Amyloidosis.
Coelho T et al.
Neurology and Therapy, 2016
The importance of a gatekeeper residue on the aggregation of transthyretin: implications for transthyretin-related amyloidoses.
Sant'Anna R et al.
The Journal of Biological Chemistry, 2014
Discordant phenotype in monozygotic female twins with Lys35Thr TTR familial amyloidotic polyneuropathy.
Ruzhansky K et al.
Journal of Clinical Neuromuscular Disease, 2014
[Familial transthyretin amyloidosis with Gly47Arg mutation and cardiac involvement: a case report].
Fan J et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2014
Chinese familial transthyretin amyloidosis with vitreous involvement is associated with the transthyretin mutation Gly83Arg: a case report and literature review.
Yin J et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2014
Multimodal retinal imaging in a Chinese kindred with familial amyloid polyneuropathy secondary to transthyretin Ile107Met mutation.
Lv W et al.
Eye (london, England), 2014
Ophthalmic manifestations in a Chinese family with familial amyloid polyneuropathy due to a TTR Gly83Arg mutation.
Liu T et al.
Eye (london, England), 2014
Vitreous amyloidosis in two large mainland Chinese kindreds resulting from transthyretin variant Lys35Thr and Leu55Arg.
Long D et al.
Ophthalmic Genetics, 2012
Transthyretin-related amyloidoses and the heart: a clinical overview.
Rapezzi C et al.
Nature Reviews. Cardiology, 2010
The molecular biology and clinical features of amyloid neuropathy.
Benson MD et al.
Muscle & Nerve, 2007
Ophthalmological manifestations of hereditary transthyretin amyloidosis.
Gondim FAA et al.
Arquivos Brasileiros De Oftalmologia, 0