| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Janna K Warendorf, Gerjan M van der Star, Dennis Dooijes, Nicolette C Notermans, Alexander F J E Vrancke. Red flags and adjusted suspicion index for distinguishing hereditary transthyretin amyloid polyneuropathy from idiopathic axonal polyneuropathy. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 2023-06-02. PMID:37266816. |
it is uncertain if it is useful to test for ttr gene mutations in patients with a typical presentation for chronic idiopathic axonal polyneuropathy (ciap) and which are the distinguishing clinical features. |
2023-06-02 |
2023-08-14 |
Not clear |
| Guangfei Duan, Yanqin Li, Meimei Ye, Hexin Liu, Ning Wang, Shizhong Lu. The Regulatory Mechanism of Transthyretin Irreversible Aggregation through Liquid-to-Solid Phase Transition. International journal of molecular sciences. vol 24. issue 4. 2023-02-25. PMID:36835140. |
transthyretin (ttr) aggregation and amyloid formation are associated with several attr diseases, such as senile systemic amyloidosis (ssa) and familial amyloid polyneuropathy (fap). |
2023-02-25 |
2023-08-14 |
Not clear |
| Adam Ioannou, Marianna Fontana, Julian D Gillmor. RNA Targeting and Gene Editing Strategies for Transthyretin Amyloidosis. BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy. 2023-02-16. PMID:36795354. |
ttr can misfold into pathogenic attr amyloid fibrils that deposit in the nerves and heart, causing a progressive and debilitating polyneuropathy (pn) and life-threatening cardiomyopathy (cm). |
2023-02-16 |
2023-08-14 |
Not clear |
| Felix J Tsai, Marcus Jaeger, Teresa Coelho, Evan T Powers, Jeffery W Kell. Tafamidis concentration required for transthyretin stabilisation in cerebrospinal fluid. Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis. 2023-01-24. PMID:36691999. |
hereditary transthyretin (ttr) amyloidosis (attrv) initially presents as a polyneuropathy and/or a cardiomyopathy. |
2023-01-24 |
2023-08-14 |
Not clear |
| Vincenzo Di Stefano, Ewan Thomas, Paolo Alonge, Valerio Giustino, Guglielmo Pillitteri, Ignazio Leale, Angelo Torrente, Antonia Pignolo, Davide Norata, Salvatore Iacono, Antonino Lupica, Antonio Palma, Giuseppe Battaglia, Filippo Brighin. Patisiran Enhances Muscle Mass after Nine Months of Treatment in ATTRv Amyloidosis: A Study with Bioelectrical Impedance Analysis and Handgrip Strength. Biomedicines. vol 11. issue 1. 2023-01-21. PMID:36672570. |
hereditary transthyretin amyloidosis with polyneuropathy (attrv) is caused by mutations in the ttr gene, leading to misfolded monomers that aggregate generating amyloid fibrils. |
2023-01-21 |
2023-08-14 |
Not clear |
| Teresa Coelho, Márcia Waddington Cruz, Chi-Chao Chao, Yeşim Parman, Jonas Wixner, Markus Weiler, Fabio A Barroso, Noel R Dasgupta, Shiangtung W Jung, Eugene Schneider, Nicholas J Viney, P James B Dyck, Yukio Ando, Julian D Gillmore, Sami Khella, Morie A Gertz, Laura Obici, John L Ber. Characteristics of Patients with Hereditary Transthyretin Amyloidosis-Polyneuropathy (ATTRv-PN) in NEURO-TTRansform, an Open-label Phase 3 Study of Eplontersen. Neurology and therapy. 2022-12-16. PMID:36525140. |
eplontersen (ion-682884), a ligand-conjugated antisense oligonucleotide designed to degrade hepatic ttr mrna, is being evaluated for the treatment of attrv amyloidosis with polyneuropathy (attrv-pn) in the phase 3, international, multicenter, open-label neuro-ttransform study (nct04136184). |
2022-12-16 |
2023-08-14 |
Not clear |
| Felix J Tsai, Luke T Nelson, Gabriel M Kline, Marcus Jäger, John L Berk, Yoshiki Sekijima, Evan T Powers, Jeffery W Kell. Characterising diflunisal as a transthyretin kinetic stabilizer at relevant concentrations in human plasma using subunit exchange. Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis. 2022-11-29. PMID:36444793. |
one such stabiliser is the non-steroidal anti-inflammatory drug (nsaid), diflunisal, which has been repurposed to treat ttr polyneuropathy. |
2022-11-29 |
2023-08-14 |
human |
| Shalesh Rohatgi, Satish Nirhale, Poonkodi Manohar, Prajwal Rao, Pravin Naphade, Furqan Mohd Akram Khan, Dhaval Dave, V V Sravya Kotaru, Sahil Gupta, Advait Gitay, Prashant Dube. Novel transthyretin gene mutation in familial amyloid neuropathy in India: Case. Annals of African medicine. vol 21. issue 3. 2022-10-07. PMID:36204920. |
familial amyloid polyneuropathy (pn), also known as amyloid transthyretin (ttr)-pn is an autosomal dominant adult-onset fatal disease, if not treated. |
2022-10-07 |
2023-08-14 |
Not clear |
| Cecília Monteiro, Jaleh S Mesgarzadeh, João Anselmo, Joana Fernandes, Marta Novais, Carla Rodrigues, David L Powers, Evan T Powers, Teresa Coelho, Jeffery W Kell. Tafamidis polyneuropathy amelioration requires modest increases in transthyretin stability even though increases in plasma native TTR and decreases in non-native TTR do not predict response. Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis. 2022-09-30. PMID:36178172. |
tafamidis polyneuropathy amelioration requires modest increases in transthyretin stability even though increases in plasma native ttr and decreases in non-native ttr do not predict response. |
2022-09-30 |
2023-08-14 |
Not clear |
| Cecília Monteiro, Jaleh S Mesgarzadeh, João Anselmo, Joana Fernandes, Marta Novais, Carla Rodrigues, David L Powers, Evan T Powers, Teresa Coelho, Jeffery W Kell. Tafamidis polyneuropathy amelioration requires modest increases in transthyretin stability even though increases in plasma native TTR and decreases in non-native TTR do not predict response. Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis. 2022-09-30. PMID:36178172. |
ttr aggregation causes hereditary transthyretin (ttr) polyneuropathy (attrv-pn) in individuals with destabilised ttr variants. |
2022-09-30 |
2023-08-14 |
Not clear |
| Thomas H Brannagan, Teresa Coelho, Annabel K Wang, Michael J Polydefkis, Peter J Dyck, John L Berk, Brian Drachman, Peter Gorevic, Carol Whelan, Isabel Conceição, Violaine Plante-Bordeneuve, Giampaolo Merlini, Laura Obici, Josep Maria Campistol Plana, Josep Gamez, Arnt V Kristen, Anna Mazzeo, Luca Gentile, Arvind Narayana, Kemi Olugemo, Peter Aquino, Merrill D Benson, Morie Gert. Long-term efficacy and safety of inotersen for hereditary transthyretin amyloidosis: NEURO-TTR open-label extension 3-year update. Journal of neurology. 2022-07-31. PMID:35908242. |
inotersen, an antisense oligonucleotide inhibitor of hepatic ttr production, demonstrated a favorable efficacy and safety profile in patients with the polyneuropathy associated with hattr in the neuro-ttr (nct01737398) study. |
2022-07-31 |
2023-08-14 |
Not clear |
| David Adams, Ivailo L Tournev, Mark S Taylor, Teresa Coelho, Violaine Planté-Bordeneuve, John L Berk, Alejandra González-Duarte, Julian D Gillmore, Soon-Chai Low, Yoshiki Sekijima, Laura Obici, Chongshu Chen, Prajakta Badri, Seth M Arum, John Vest, Michael Polydefki. Efficacy and safety of vutrisiran for patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy: a randomized clinical trial. Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis. 2022-07-25. PMID:35875890. |
the study objective was to assess the effect of vutrisiran, an rna interference therapeutic that reduces transthyretin (ttr) production, in patients with hereditary transthyretin (attrv) amyloidosis with polyneuropathy. |
2022-07-25 |
2023-08-14 |
Not clear |
| Sha He, Dongyun Gou, Mengwei Yuan, Jihong Guo, Xiujuan Lv, Ziqian Liu, Xiaowei Ma, Yancong Ha. A Study of Familial Amyloid Polyneuropathy Induced by the TTR Val30Leu Mutation in China. European neurology. 2022-07-13. PMID:35830843. |
a study of familial amyloid polyneuropathy induced by the ttr val30leu mutation in china. |
2022-07-13 |
2023-08-14 |
Not clear |
| Sha He, Dongyun Gou, Mengwei Yuan, Jihong Guo, Xiujuan Lv, Ziqian Liu, Xiaowei Ma, Yancong Ha. A Study of Familial Amyloid Polyneuropathy Induced by the TTR Val30Leu Mutation in China. European neurology. 2022-07-13. PMID:35830843. |
familial amyloid polyneuropathy is currently prevalent worldwide as the transthyretin (ttr) val30met mutation, and there are other types of mutations. |
2022-07-13 |
2023-08-14 |
Not clear |
| Tatsufumi Murakami, Hiroyuki Watanabe, Akira Yamamoto, Yoshihide Sunad. Magnetic resonance imaging of dorsal root ganglion in a pre-symptomatic subject with familial amyloid polyneuropathy transthyretin E61K. Journal of the neurological sciences. vol 440. 2022-07-01. PMID:35777313. |
we recently reported evidence of transthyretin (ttr) familial amyloid polyneuropathy (ttr fap) associated with ttr e61k, which is characterized by late-onset sensory dominant polyneuropathy, autonomic disturbances, and cardiomyopathy. |
2022-07-01 |
2023-08-14 |
human |
| Xiaonan Zhuang, Zhongcui Sun, Fengjuan Gao, Min Wang, Wenyi Tang, Wei Liu, Keyan Wang, Jihong Wu, Rui Jiang, Gezhi X. Ocular Manifestations in a Chinese Pedigree of Familial Amyloidotic Polyneuropathy Carrying the Transthyretin Mutation c.401A>G (p.Tyr134Cys). Genes. vol 13. issue 5. 2022-05-28. PMID:35627273. |
familial amyloid polyneuropathy (fap) caused by a genetic mutation in transthyretin (ttr) is an autosomal dominant hereditary disease. |
2022-05-28 |
2023-08-13 |
Not clear |
| Martina Schmidt, Ali Yilmaz, Michael Bietenbeck, Matthias Schilling, Christoph Röcken, Hartmut Hans-Jürgen Schmid. [de novo hATTR amyloidosis after domino transplantation of a donor's liver: a case report for the use of Patisiran]. Zeitschrift fur Gastroenterologie. 2022-05-09. PMID:35533685. |
as a result of the cumulative amyloid deposits, especially in the peripheral nerves and the heart, the majority of patients develop progressive, peripheral sensorimotor polyneuropathy and biventricular cardiomyopathy over time.since ttr - and its amyloidogenic variants too - is predominantly synthesized in the liver, early, orthotopic liver transplantation (ltx) is a treatment option that can be used to potentially stop the progression of hattr amyloidosis.the actual case shows a patient with hepatocellular carcinoma who received the organ of a patient with hattr as part of a domino liver transplantation. |
2022-05-09 |
2023-08-13 |
Not clear |
| Hartmut H Schmidt, Jonas Wixner, Violaine Planté-Bordeneuve, Francisco Muñoz-Beamud, Laura Lladó, Julian D Gillmore, Anna Mazzeo, Xingyu Li, Seth Arum, Patrick Y Jay, David Adam. Patisiran treatment in patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy after liver transplantation. American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons. 2022-02-25. PMID:35213769. |
this phase 3b, open-label trial evaluated efficacy and safety of patisiran in patients with attrv amyloidosis with polyneuropathy progression post-lt. primary endpoint was median transthyretin (ttr) reduction from baseline. |
2022-02-25 |
2023-08-13 |
Not clear |
| Hartmut H Schmidt, Jonas Wixner, Violaine Planté-Bordeneuve, Francisco Muñoz-Beamud, Laura Lladó, Julian D Gillmore, Anna Mazzeo, Xingyu Li, Seth Arum, Patrick Y Jay, David Adam. Patisiran treatment in patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy after liver transplantation. American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons. 2022-02-25. PMID:35213769. |
in conclusion, patisiran reduced serum ttr, was well tolerated, and improved or stabilized key disease impairment measures in patients with attrv amyloidosis with polyneuropathy progression post-lt. (www.clinicaltrials.gov nct03862807). |
2022-02-25 |
2023-08-13 |
Not clear |
| Zhenghua Li, Hideki Kanazashi, Yoshimi Tokashiki, Rie Fujikawa, Ayaka Okagaki, Sho Katoh, Kenta Kojima, Kyoko Haruna, Naoko Matsushita, Tomo-O Ishikawa, Hong Chen, Kenichi Yamamur. TTR exon-humanized mouse optimal for verifying new therapies for FAP. Biochemical and biophysical research communications. vol 599. 2022-02-17. PMID:35176627. |
familial amyloidotic polyneuropathy (fap) is caused by a mutation in the transthyretin (ttr) gene. |
2022-02-17 |
2023-08-13 |
mouse |