Associated Papers
Precision medicine with pioneering RNAi therapeutics in ATTR amyloidosis: from bench to bedside.
Malinverni S et al.
European Journal of Internal Medicine, 2026
Integrative structural profiling and ligand optimisation across the transthyretin mutational landscape.
Lomoio U et al.
Npj Systems Biology and Applications, 2025
A Multicenter Study of Hereditary Transthyretin Amyloidosis in China.
Chu X et al.
Annals of Neurology, 2025
Structural and thermodynamic characterization of a highly amyloidogenic dimer of transthyretin involved in a severe cardiomyopathy.
Martins LDA et al.
The Journal of Biological Chemistry, 2024
[A rare variant in the TTR gene (p.E112K) is associated with systemic amyloidosis and a new symptom - skin hyperemia in response to ethanol intake: family segregation analysis, literature review, and a clinical case. Case report].
Chumakova OS et al.
Terapevticheskii Arkhiv, 2023
Hypertrophic cardiomyopathy caused by a heterozygous variant in TTR gene: A case report.
Yuan H et al.
Medicine, 2023
Oral Therapy for the Treatment of Transthyretin-Related Amyloid Cardiomyopathy.
Nuvolone M et al.
International Journal of Molecular Sciences, 2022
The experience of hereditary apolipoprotein A-I amyloidosis at the UK National Amyloidosis Centre.
Cohen OC et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2022
Clinical phenotypes and genetic features of hereditary transthyretin amyloidosis patients in China.
He X et al.
Orphanet Journal of Rare Diseases, 2022
The Journey of Human Transthyretin: Synthesis, Structure Stability, and Catabolism.
Sanguinetti C et al.
Biomedicines, 2022
Deterioration after Liver Transplantation and Transthyretin Stabilizer Administration in a Patient with ATTRv Amyloidosis with a Leu58Arg (p.Leu78Arg) TTR Variant.
Hikishima S et al.
Internal Medicine (tokyo, Japan), 2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
Clinical and biochemical characterization of hereditary transthyretin amyloidosis caused by E61K mutation.
Chu X et al.
Frontiers in Molecular Neuroscience, 2022
Chance or challenge, spoilt for choice? New recommendations on diagnostic and therapeutic considerations in hereditary transthyretin amyloidosis with polyneuropathy: the German/Austrian position and review of the literature.
Dohrn MF et al.
Journal of Neurology, 2021
Targeting transthyretin - Mechanism-based treatment approaches and future perspectives in hereditary amyloidosis.
Dohrn MF et al.
Journal of Neurochemistry, 2021
Targeted Therapies for Hereditary Peripheral Neuropathies: Systematic Review and Steps Towards a 'treatabolome'.
Jennings MJ et al.
Journal of Neuromuscular Diseases, 2021
Inborn errors of apolipoprotein A-I metabolism: implications for disease, research and development.
Zanoni P et al.
Current Opinion in Lipidology, 2020
Extremely Early Onset Transthyretin Familial Amyloid Polyneuropathy with a Leu55Pro Mutation: A Pediatric Case Report and Literature Review.
Lee YJ et al.
Neuropediatrics, 2019
A new genetic variant of hereditary apolipoprotein A-I amyloidosis: a case-report followed by discussion of diagnostic challenges and therapeutic options.
Moutafi M et al.
Bmc Medical Genetics, 2019
High-efficient bacterial production of human ApoA-I amyloidogenic variants.
Del Giudice R et al.
Protein Science : a Publication of the Protein Society, 2018
Amyloid Polyneuropathy and Myocardial Amyloidosis 10 Years after Domino Liver Transplantation from a Patient with a Transthyretin Ser50Arg Mutation.
Matsushima M et al.
Internal Medicine (tokyo, Japan), 2017
Rare Genetic Variants of the Transthyretin Gene Are Associated with Alzheimer's Disease in Han Chinese.
Xiang Q et al.
Molecular Neurobiology, 2017
Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis.
Iorio A et al.
Bmc Genomics, 2017
Transthyretin-related hereditary amyloidosis with recurrent vomiting and renal insufficiency as the initial presentation: A case report.
Xu J et al.
Medicine, 2017
Extremely early onset hereditary ATTR amyloidosis with G47R (p.G67R) mutation.
Kobayashi Y et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2016
The effects of non-synonymous single nucleotide polymorphisms (nsSNPs) on protein-protein interactions.
Yates CM et al.
Journal of Molecular Biology, 2013
Spermatogenic and steroidogenic impairment of the testicle characterizes the hereditary leucine-75-proline apolipoprotein a-I amyloidosis.
Scalvini T et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
Classification of conformational stability of protein mutants from 3D pseudo-folding graph representation of protein sequences using support vector machines.
Fernández M et al.
Proteins, 2008
Predicting protein stability changes from sequences using support vector machines.
Capriotti E et al.
Bioinformatics (oxford, England), 2005
The hereditary amyloidoses.
Benson MD
Best Practice & Research. Clinical Rheumatology, 2003