| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Josef Finsterer, Stephan Iglseder, Julia Wanschitz, Raffi Topakian, Wolfgang N Löscher, Wolfgang Grisol. Hereditary transthyretin-related amyloidosis. Acta neurologica Scandinavica. vol 139. issue 2. 2019-02-21. PMID:30295933. |
hereditary transthyretin(ttr)-related amyloidosis (attrm amyloidosis) is an endemic/non-endemic, autosomal-dominant, early- and late-onset, rare, progressive disorder, predominantly manifesting as length-dependent, small fiber dominant, axonal polyneuropathy and frequently associated with cardiac disorders and other multisystem diseases. |
2019-02-21 |
2023-08-13 |
Not clear |
| Michael Collins, Anna Pellat, Guillemette Antoni, Hélène Agostini, Céline Labeyrie, David Adams, Franck Carbonne. Somatostatin analogues for refractory diarrhoea in familial amyloid polyneuropathy. PloS one. vol 13. issue 8. 2019-02-04. PMID:30161158. |
familial amyloid polyneuropathy (fap) is a genetic disease leading to the production of a variant transthyretin (ttr) or a beta variant β2-microglobulin. |
2019-02-04 |
2023-08-13 |
Not clear |
| H-W Kan, H Chiang, W-M Lin, I-S Yu, S-W Lin, S-T Hsie. Sensory nerve degeneration in a mouse model mimicking early manifestations of familial amyloid polyneuropathy due to transthyretin Ala97Ser. Neuropathology and applied neurobiology. vol 44. issue 7. 2019-01-23. PMID:29423915. |
sensory nerve degeneration and consequent abnormal sensations are the earliest and most prevalent manifestations of familial amyloid polyneuropathy (fap) due to amyloidogenic transthyretin (ttr). |
2019-01-23 |
2023-08-13 |
mouse |
| Johanna Vollmar, Julia C Schmid, Maria Hoppe-Lotichius, Ana P Barreiros, Mimoun Azizi, Tilman Emrich, Christian Geber, Arno Schad, Veronica Weyer, Gerd Otto, Michael Heise, Jens Mittler, Frank Birklein, Hauke Lang, Peter R Galle, Tim Zimmerman. Progression of transthyretin (TTR) amyloidosis in donors and recipients after domino liver transplantation-a prospective single-center cohort study. Transplant international : official journal of the European Society for Organ Transplantation. vol 31. issue 11. 2019-01-07. PMID:30091268. |
liver transplantation (lt) is the first-line therapy in patients with transthyretin (ttr) amyloidosis and progressive familial amyloid polyneuropathy (fap). |
2019-01-07 |
2023-08-13 |
Not clear |
| Genki Suenaga, Tokunori Ikeda, Teruaki Masuda, Hiroaki Motokawa, Taro Yamashita, Kotaro Takamatsu, Yohei Misumi, Mitsuharu Ueda, Hirotaka Matsui, Satoru Senju, Yukio And. Inflammatory state exists in familial amyloid polyneuropathy that may be triggered by mutated transthyretin. Scientific reports. vol 7. issue 1. 2018-12-17. PMID:28484271. |
the relationship between familial amyloid polyneuropathy (fap), which is caused by mutated transthyretin (ttr), and inflammation has only recently been noted. |
2018-12-17 |
2023-08-13 |
Not clear |
| Susana Lêdo, Ana Ramires, Ângela Leite, Maria Alzira Pimenta Dinis, Jorge Sequeiro. Long-term predictors for psychological outcome of pre-symptomatic testing for late-onset neurological diseases. European journal of medical genetics. vol 61. issue 10. 2018-12-11. PMID:29581083. |
this longitudinal study aimed at determining predicting variables for middle and long-term psychological disturbance due pre-symptomatic testing (pst) for two late-onset neurological diseases, huntington disease (hd) and ttr (transthyretin protein) familial amyloid polyneuropathy (fap) val30met (now classified as val50met). |
2018-12-11 |
2023-08-13 |
Not clear |
| Fabrizio Salvi, Roberto Volpe, Francesca Pastorelli, Andrea Bianchi, Alessandra Vella, Claudio Rapezzi, Mario Mascalch. Failure of Tafamidis to Halt Progression of Ala36Pro TTR Oculomeningovascular Amyloidosis. Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association. vol 27. issue 9. 2018-11-05. PMID:29779881. |
oculomeningovascular amyloidosis is a variant of transthyretin (ttr) amyloidotic polyneuropathy, which is associated with blindness and brain ischemia, microhemorrages, and siderosis due to prominent production of the abnormal ttr in the eye and in the choroid plexuses. |
2018-11-05 |
2023-08-13 |
Not clear |
| Fabrizio Salvi, Roberto Volpe, Francesca Pastorelli, Andrea Bianchi, Alessandra Vella, Claudio Rapezzi, Mario Mascalch. Failure of Tafamidis to Halt Progression of Ala36Pro TTR Oculomeningovascular Amyloidosis. Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association. vol 27. issue 9. 2018-11-05. PMID:29779881. |
tafamidis is a ttr stabilizer that is orally administered and, by interfering with amyloid fibril formation and deposition, is capable of slowing progression of ttr polyneuropathy and of early-stage cardiomyopathy. |
2018-11-05 |
2023-08-13 |
Not clear |
| Laura Pont, Victoria Sanz-Nebot, Marta Vilaseca, Joaquim Jaumot, Roma Tauler, Fernando Benavent. A chemometric approach for characterization of serum transthyretin in familial amyloidotic polyneuropathy type I (FAP-I) by electrospray ionization-ion mobility mass spectrometry. Talanta. vol 181. 2018-09-24. PMID:29426546. |
the homotetrameric protein transthyretin (ttr) is involved in familial amyloidotic polyneuropathy type i (fap-i). |
2018-09-24 |
2023-08-13 |
Not clear |
| Yuriko Wakita, Takashi Sato, Keisuke Chosa, Mary Ann Suico, Ryoko Sasaki, Shingo Kawano, Nami Hashimoto, Yuriko Teranishi, Yoshiki Imai, Hiroshi Morioka, Tsuyoshi Shuto, Hirofumi Ka. Characterization of Non-amyloidogenic G101S Transthyretin. Biological & pharmaceutical bulletin. vol 41. issue 4. 2018-09-11. PMID:29607936. |
mutations in the ttr gene cause ttr tetramer protein to dissociate to monomer, which is the rate-limiting step in familial amyloid polyneuropathy. |
2018-09-11 |
2023-08-13 |
Not clear |
| Ai Woon Yee, Martine Moulin, Nina Breteau, Michael Haertlein, Edward P Mitchell, Jonathan B Cooper, Elisabetta Boeri Erba, V Trevor Forsyt. Impact of Deuteration on the Assembly Kinetics of Transthyretin Monitored by Native Mass Spectrometry and Implications for Amyloidoses. Angewandte Chemie (International ed. in English). vol 55. issue 32. 2018-09-05. PMID:27311939. |
the destabilizing effects of ttr deuteration are rather similar in character to those observed for aggressive mutations of ttr such as l55p (associated with familial amyloid polyneuropathy). |
2018-09-05 |
2023-08-13 |
Not clear |
| Xun Sun, H Jane Dyson, Peter E Wrigh. Kinetic analysis of the multistep aggregation pathway of human transthyretin. Proceedings of the National Academy of Sciences of the United States of America. vol 115. issue 27. 2018-09-04. PMID:29915031. |
aggregation of transthyretin (ttr) is the causative agent for ttr cardiomyopathy and polyneuropathy amyloidoses. |
2018-09-04 |
2023-08-13 |
human |
| Ana Martins da Silva, Sara Cavaco, Joana Fernandes, Raquel Samões, Cristina Alves, Márcio Cardoso, Jeffery W Kelly, Cecília Monteiro, Teresa Coelh. Age-dependent cognitive dysfunction in untreated hereditary transthyretin amyloidosis. Journal of neurology. vol 265. issue 2. 2018-08-13. PMID:29209781. |
this cross-sectional study shows that cognitive dysfunction is part of the broad spectrum of clinical manifestations in older hereditary ttr amyloidosis patients with peripheral polyneuropathy, even in the early stages of the disease. |
2018-08-13 |
2023-08-13 |
human |
| Gloria G Chan, Clarissa M Koch, Lawreen H Connor. Serum Proteomic Variability Associated with Clinical Phenotype in Familial Transthyretin Amyloidosis (ATTRm). Journal of proteome research. vol 16. issue 11. 2018-08-01. PMID:28922609. |
attr, caused by amyloid-forming variant ttr proteins (attrm) that arise from point mutations in the ttr gene, were classically referred to as familial amyloid cardiomyopathy (fac) or familial amyloid polyneuropathy (fap), reflecting the clinical phenotype. |
2018-08-01 |
2023-08-13 |
Not clear |
| Diana Martins, João Moreira, Nádia Pereira Gonçalves, Maria João Saraiv. MMP-14 overexpression correlates with the neurodegenerative process in familial amyloidotic polyneuropathy. Disease models & mechanisms. vol 10. issue 10. 2018-07-18. PMID:28993312. |
because axon growth and regeneration is impaired in familial amyloidotic polyneuropathy (fap), a neurodegenerative disorder characterized by misfolding and deposition of mutant transthyretin (ttr) in the peripheral nervous system (pns), we presently investigated the expression levels and the potential role for mmp-14 in this condition. |
2018-07-18 |
2023-08-13 |
mouse |
| Maria da Conceição Azevedo Coutinho, Nuno Cortez-Dias, Guilhermina Cantinho, Isabel Conceição, Tatiana Guimarães, Gustavo Lima da Silva, Miguel Nobre Menezes, Ana Rita Francisco, Rui Plácido, Fausto J Pint. Progression of myocardial sympathetic denervation assessed by Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology. vol 36. issue 5. 2018-06-12. PMID:28479268. |
progression of myocardial sympathetic denervation assessed by familial amyloid polyneuropathy (fap) is a rare disease caused by systemic deposition of amyloidogenic variants of the transthyretin (ttr) protein. |
2018-06-12 |
2023-08-13 |
Not clear |
| Tatsufumi Murakami, Hirotake Nishimura, Taiji Nagai, Shoji Hemmi, Yumiko Kutoku, Yutaka Ohsawa, Yoshihide Sunad. Clinical and pathological findings in familial amyloid polyneuropathy caused by a transthyretin E61K mutation. Journal of the neurological sciences. vol 381. 2018-06-11. PMID:28991715. |
familial amyloid polyneuropathy (fap) is an autosomal dominant hereditary systemic amyloidosis caused by mutation of the transthyretin (ttr) gene, and usually shows sensory-dominant polyneuropathy and autonomic neuropathy at the initial stage. |
2018-06-11 |
2023-08-13 |
Not clear |
| Joseph D Schonhoft, Cecilia Monteiro, Lars Plate, Yvonne S Eisele, John M Kelly, Daniel Boland, Christopher G Parker, Benjamin F Cravatt, Sergio Teruya, Stephen Helmke, Mathew Maurer, John Berk, Yoshiki Sekijima, Marta Novais, Teresa Coelho, Evan T Powers, Jeffery W Kell. Peptide probes detect misfolded transthyretin oligomers in plasma of hereditary amyloidosis patients. Science translational medicine. vol 9. issue 407. 2018-05-21. PMID:28904227. |
these probes revealed that there are much fewer misfolded ttr oligomers in healthy controls, in asymptomatic carriers of mutations linked to amyloid polyneuropathy, and in patients with ttr-associated cardiomyopathies. |
2018-05-21 |
2023-08-13 |
Not clear |
| Joseph D Schonhoft, Cecilia Monteiro, Lars Plate, Yvonne S Eisele, John M Kelly, Daniel Boland, Christopher G Parker, Benjamin F Cravatt, Sergio Teruya, Stephen Helmke, Mathew Maurer, John Berk, Yoshiki Sekijima, Marta Novais, Teresa Coelho, Evan T Powers, Jeffery W Kell. Peptide probes detect misfolded transthyretin oligomers in plasma of hereditary amyloidosis patients. Science translational medicine. vol 9. issue 407. 2018-05-21. PMID:28904227. |
misfolded oligomers decrease in ttr amyloid polyneuropathy patients treated with disease-modifying therapies (tafamidis or liver transplant-mediated gene therapy). |
2018-05-21 |
2023-08-13 |
Not clear |
| Joseph D Schonhoft, Cecilia Monteiro, Lars Plate, Yvonne S Eisele, John M Kelly, Daniel Boland, Christopher G Parker, Benjamin F Cravatt, Sergio Teruya, Stephen Helmke, Mathew Maurer, John Berk, Yoshiki Sekijima, Marta Novais, Teresa Coelho, Evan T Powers, Jeffery W Kell. Peptide probes detect misfolded transthyretin oligomers in plasma of hereditary amyloidosis patients. Science translational medicine. vol 9. issue 407. 2018-05-21. PMID:28904227. |
in a subset of ttr amyloid polyneuropathy patients, the probes also detected a circulating ttr fragment that disappeared after tafamidis treatment. |
2018-05-21 |
2023-08-13 |
Not clear |