Drug and Gene Therapy for Treating Variant Transthyretin Amyloidosis (ATTRv) Neuropathy

Planté-Bordeneuve, V.; Said, G. Familial amyloid polyneuropathy. Lancet Neurol., 2011, 10(12), 1086-1097.
[http://dx.doi.org/10.1016/S1474-4422(11)70246-0] [PMID: 22094129]

Tsuzuki, T.; Mita, S.; Maeda, S.; Araki, S.; Shimada, K. Structure of the human prealbumin gene. J. Biol. Chem., 1985, 260(22), 12224-12227.
[http://dx.doi.org/10.1016/S0021-9258(17)39013-0] [PMID: 2995367]

Liz, M.A.; Coelho, T.; Bellotti, V.; Fernandez-Arias, M.I.; Mallaina, P.; Obici, L. a narrative review of the role of transthyretin in health and disease. Neurol. Ther., 2020, 9(2), 395-402.
[http://dx.doi.org/10.1007/s40120-020-00217-0] [PMID: 33001386]

Magalhães, J.; Eira, J.; Liz, M.A. The role of transthyretin in cell biology: impact on human pathophysiology. Cell. Mol. Life Sci., 2021, 78(17-18), 6105-6117.
[http://dx.doi.org/10.1007/s00018-021-03899-3] [PMID: 34297165]

Saraiva, M.J.M.; Birken, S.; Costa, P.P.; Goodman, D.S. Family studies of the genetic abnormality in transthyretin (prealbumin) in Portuguese patients with familial amyloidotic polyneuropathy. Ann. N. Y. Acad. Sci., 1984, 435, 86-100.
[http://dx.doi.org/10.1111/j.1749-6632.1984.tb13742.x] [PMID: 6099706]

Andreou, S.; Panayiotou, E.; Michailidou, K.; Pirpa, P.; Hadjisavvas, A.; El Salloukh, A.; Barnes, D.; Antoniou, A.; Agathangelou, P.; Papastavrou, K.; Christodoulou, K.; Tanteles, G.A.; Kyriakides, T. Epidemiology of ATTRV30M neuropathy in Cyprus and the modifier effect of complement C1q on the age of disease onset. Amyloid, 2018, 25(4), 220-226.
[http://dx.doi.org/10.1080/13506129.2018.1534731] [PMID: 30572722]

Schmidt, H.H.; Waddington-Cruz, M.; Botteman, M.F.; Carter, J.A.; Chopra, A.S.; Hopps, M.; Stewart, M.; Fallet, S.; Amass, L. Estimating the global prevalence of transthyretin familial amyloid polyneuropathy. Muscle Nerve, 2018, 57(5), 829-837.
[http://dx.doi.org/10.1002/mus.26034] [PMID: 29211930]

Dardiotis, E.; Koutsou, P.; Papanicolaou, E.Z.; Vonta, I.; Kladi, A.; Vassilopoulos, D.; Hadjigeorgiou, G.; Christodoulou, K.; Kyriakides, T. Epidemiological, clinical and genetic study of familial amyloidotic polyneuropathy in Cyprus. Amyloid, 2009, 16(1), 32-37.
[http://dx.doi.org/10.1080/13506120802676948] [PMID: 19291512]

Kavousanaki, M. Tzagournissakis, Μ.; Zaganas, I.; Stylianou, K.G.; Patrianakos, A.P.; Tsilimbaris, M.K.; Mantaka, A.; Samonakis, D.N. Liver transplantation for familial amyloid polyneuropathy (Val30Met): Long-term follow-up prospective study in a nontransplant center. Transplant. Proc., 2019, 51(2), 429-432.
[http://dx.doi.org/10.1016/j.transproceed.2019.01.071] [PMID: 30879558]

Reinés, J.; Vera, T.; Martín, M.; Serra, H.; Campins, M.M.; Millán, J.M.; Lezaun, C.; Cruz, M. Epidemiology of transthyretin-associated familial amyloid polyneuropathy in the Majorcan area: Son Llàtzer Hospital descriptive study. Orphanet J. Rare Dis., 2014, 9(1), 29.
[http://dx.doi.org/10.1186/1750-1172-9-29] [PMID: 24572009]

Koike, H.; Misu, K.; Ikeda, S.; Ando, Y.; Nakazato, M.; Ando, E.; Yamamoto, M.; Hattori, N.; Sobue, G. Type I (transthyretin Met30) familial amyloid polyneuropathy in Japan: early- vs. late-onset form. Arch. Neurol., 2002, 59(11), 1771-1776.
[http://dx.doi.org/10.1001/archneur.59.11.1771] [PMID: 12433265]

Kristen, A.V.; Ajroud-Driss, S.; Conceição, I.; Gorevic, P.; Kyriakides, T.; Obici, L. Patisiran, an RNAi therapeutic for the treatment of hereditary transthyretin-mediated amyloidosis. Neurodegener. Dis. Manag., 2019, 9(1), 5-23.
[http://dx.doi.org/10.2217/nmt-2018-0033] [PMID: 30480471]

Bistola, V.; Parissis, J.; Foukarakis, E.; Valsamaki, P.N.; Anastasakis, A.; Koutsis, G.; Efthimiadis, G.; Kastritis, E. Practical recommendations for the diagnosis and management of transthyretin cardiac amyloidosis. Heart Fail. Rev., 2021, 26(4), 861-879.
[http://dx.doi.org/10.1007/s10741-020-10062-w] [PMID: 33452596]

Buxbaum, J.N.; Tagoe, C.; Gallo, G.; Walker, J.R.; Kurian, S.; Salomon, D.R. Why are some amyloidoses systemic? Does hepatic “chaperoning at a distance” prevent cardiac deposition in a transgenic model of human senile systemic (transthyretin) amyloidosis? FASEB J., 2012, 26(6), 2283-2293.
[http://dx.doi.org/10.1096/fj.11-189571] [PMID: 22362898]

Sekijima, Y.; Wiseman, R.L.; Matteson, J.; Hammarström, P.; Miller, S.R.; Sawkar, A.R.; Balch, W.E.; Kelly, J.W. The biological and chemical basis for tissue-selective amyloid disease. Cell, 2005, 121(1), 73-85.
[http://dx.doi.org/10.1016/j.cell.2005.01.018] [PMID: 15820680]

Dardiotis, E.; Koutsou, P.; Zamba-Papanicolaou, E.; Vonta, I.; Hadjivassiliou, M.; Hadjigeorgiou, G.; Cariolou, M.; Christodoulou, K.; Kyriakides, T. Complement C1Q polymorphisms modulate onset in familial amyloidotic polyneuropathy TTR Val30Met. J. Neurol. Sci., 2009, 284(1-2), 158-162.
[http://dx.doi.org/10.1016/j.jns.2009.05.018] [PMID: 19493541]

Dias, A.; Santos, D.; Coelho, T.; Alves-Ferreira, M.; Sequeiros, J.; Alonso, I.; Sousa, A.; Lemos, C. C1 QA and C1 QC modify age‐at onset in familial amyloid polyneuropathy patients. Ann. Clin. Transl. Neurol., 2019, 6(4), 748-754.
[http://dx.doi.org/10.1002/acn3.748] [PMID: 31019999]

Panayiotou, E.; Fella, E.; Papacharalambous, R.; Malas, S.; Saraiva, M.J.; Kyriakides, T. C1q ablation exacerbates amyloid deposition: A study in a transgenic mouse model of ATTRV30M amyloid neuropathy. PLoS One, 2017, 12(4)e0175767
[http://dx.doi.org/10.1371/journal.pone.0175767] [PMID: 28407005]

Andrade, C. A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain, 1952, 75(3), 408-427.
[http://dx.doi.org/10.1093/brain/75.3.408] [PMID: 12978172]

Koike, H.; Misu, K.; Sugiura, M.; Iijima, M.; Mori, K.; Yamamoto, M.; Hattori, N.; Mukai, E.; Ando, Y.; Ikeda, S.; Sobue, G. Pathology of early- vs. late-onset TTR Met30 familial amyloid polyneuropathy. Neurology, 2004, 63(1), 129-138.
[http://dx.doi.org/10.1212/01.WNL.0000132966.36437.12] [PMID: 15249622]

Koike, H.; Hashimoto, R.; Tomita, M.; Kawagashira, Y.; Iijima, M.; Tanaka, F.; Sobue, G. Diagnosis of sporadic transthyretin Val30Met familial amyloid polyneuropathy: a practical analysis. Amyloid, 2011, 18(2), 53-62.
[http://dx.doi.org/10.3109/13506129.2011.565524] [PMID: 21463231]

Castro, J.; Miranda, B.; Castro, I.; de Carvalho, M.; Conceição, I. The diagnostic accuracy of Sudoscan in transthyretin familial amyloid polyneuropathy. Clin. Neurophysiol., 2016, 127(5), 2222-2227.
[http://dx.doi.org/10.1016/j.clinph.2016.02.013] [PMID: 27072093]

Dardiotis, E.; Andreou, S.; Aloizou, A.M.; Panayiotou, E.; Siokas, V.; Ioannou, M.N.; Vounou, E.; Christodoulou, K.; Tanteles, G.A.; Michaelides, D.; Kyriakides, T. The frequency of central nervous system complications in the Cypriot cohort of ATTRV30M neuropathy transplanted patients. Neurol. Sci., 2020, 41(5), 1163-1170.
[http://dx.doi.org/10.1007/s10072-019-04176-9] [PMID: 31897943]

Buxbaum, J.N.; Brannagan, T., III; Buades-Reinés, J.; Cisneros, E.; Conceicao, I.; Kyriakides, T.; Merlini, G.; Obici, L.; Plante-Bordeneuve, V.; Rousseau, A.; Sekijima, Y.; Imai, A.; Waddington Cruz, M.; Yamada, M. Transthyretin deposition in the eye in the era of effective therapy for hereditary ATTRV30M amyloidosis. Amyloid, 2019, 26(1), 10-14.
[http://dx.doi.org/10.1080/13506129.2018.1554563] [PMID: 30675806]

Sekijima, Y.; Yazaki, M.; Oguchi, K.; Ezawa, N.; Yoshinaga, T.; Yamada, M.; Yahikozawa, H.; Watanabe, M.; Kametani, F.; Ikeda, S. Cerebral amyloid angiopathy in posttransplant patients with hereditary ATTR amyloidosis. Neurology, 2016, 87(8), 773-781.
[http://dx.doi.org/10.1212/WNL.0000000000003001] [PMID: 27466465]

Maia, L.F.; Magalhães, R.; Freitas, J.; Taipa, R.; Pires, M.M.; Osório, H.; Dias, D.; Pessegueiro, H.; Correia, M.; Coelho, T. CNS involvement in V30M transthyretin amyloidosis: clinical, neuropathological and biochemical findings. J. Neurol. Neurosurg. Psychiatry, 2015, 86(2), 159-167.
[http://dx.doi.org/10.1136/jnnp-2014-308107] [PMID: 25091367]

Sousa, L.; Coelho, T.; Taipa, R. CNS Involvement in hereditary transthyretin amyloidosis. Neurology, 2021, 97(24), 1111-1119.
[http://dx.doi.org/10.1212/WNL.0000000000012965] [PMID: 34663645]

Luigetti, M.; Romano, A.; Di Paolantonio, A.; Bisogni, G.; Sabatelli, M. Diagnosis and treatment of hereditary transthyretin amyloidosis (hATTR) polyneuropathy: Current perspectives on improving patient care. Ther. Clin. Risk Manag., 2020, 16, 109-123.
[http://dx.doi.org/10.2147/TCRM.S219979] [PMID: 32110029]

Lobato, L.; Rocha, A. Transthyretin amyloidosis and the kidney. Clin. J. Am. Soc. Nephrol., 2012, 7(8), 1337-1346.
[http://dx.doi.org/10.2215/CJN.08720811] [PMID: 22537653]

Adams, D.; Suhr, O.B.; Hund, E.; Obici, L.; Tournev, I.; Campistol, J.M.; Slama, M.S.; Hazenberg, B.P.; Coelho, T. First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy. Curr. Opin. Neurol., 2016, 29(Suppl. 1), S14-S26.
[http://dx.doi.org/10.1097/WCO.0000000000000289] [PMID: 26734952]

Pilebro, B.; Suhr, O.B.; Näslund, U.; Westermark, P.; Lindqvist, P.; Sundström, T. 99m Tc-DPD uptake reflects amyloid fibril composition in hereditary transthyretin amyloidosis. Ups. J. Med. Sci., 2016, 121(1), 17-24.
[http://dx.doi.org/10.3109/03009734.2015.1122687] [PMID: 26849806]

Holmgren, G.; Steen, L.; Ekstedt, J.; Groth, C.G.; Ericzon, B.G.; Eriksson, S.; Andersen, O.; Karlberg, I.; Nordén, G.; Nakazato, M.; Hawkins, P.; Richardson, S.; Pepys, M. Biochemical effect of liver transplantation in two Swedish patients with familial amyloidotic polyneuropathy (FAP-met30). Clin. Genet., 1991, 40(3), 242-246.
[http://dx.doi.org/10.1111/j.1399-0004.1991.tb03085.x] [PMID: 1685359]

Ericzon, B.G.; Wilczek, H.E.; Larsson, M.; Wijayatunga, P.; Stangou, A.; Pena, J.R.; Furtado, E.; Barroso, E.; Daniel, J.; Samuel, D.; Adam, R.; Karam, V.; Poterucha, J.; Lewis, D.; Ferraz-Neto, B.H.; Cruz, M.W.; Munar-Ques, M.; Fabregat, J.; Ikeda, S.; Ando, Y.; Heaton, N.; Otto, G.; Suhr, O. Liver transplantation for hereditary transthyretin amyloidosis. Transplantation, 2015, 99(9), 1847-1854.
[http://dx.doi.org/10.1097/TP.0000000000000574] [PMID: 26308415]

Liepnieks, J.J.; Benson, M.D. Progression of cardiac amyloid deposition in hereditary transthyretin amyloidosis patients after liver transplantation. Amyloid, 2007, 14(4), 277-282.
[http://dx.doi.org/10.1080/13506120701614032] [PMID: 17968687]

Beirão, J.M.; Malheiro, J.; Lemos, C.; Matos, E.; Beirão, I.; Pinho-Costa, P.; Torres, P. Impact of liver transplantation on the natural history of oculopathy in Portuguese patients with transthyretin (V30M) amyloidosis. Amyloid, 2015, 22(1), 31-35.
[http://dx.doi.org/10.3109/13506129.2014.989318] [PMID: 25475560]

Bulawa, C.E.; Connelly, S.; DeVit, M.; Wang, L.; Weigel, C.; Fleming, J.A.; Packman, J.; Powers, E.T.; Wiseman, R.L.; Foss, T.R.; Wilson, I.A.; Kelly, J.W.; Labaudinière, R. Tafamidis, a potent and selective transthyretin kinetic stabilizer that inhibits the amyloid cascade. Proc. Natl. Acad. Sci. USA, 2012, 109(24), 9629-9634.
[http://dx.doi.org/10.1073/pnas.1121005109] [PMID: 22645360]

Almeida, M.R.; Macedo, B.; Cardoso, I.; Alves, I.; Valencia, G.; Arsequell, G.; Planas, A.; Saraiva, M.J. Selective binding to transthyretin and tetramer stabilization in serum from patients with familial amyloidotic polyneuropathy by an iodinated diflunisal derivative. Biochem. J., 2004, 381(2), 351-356.
[http://dx.doi.org/10.1042/BJ20040011] [PMID: 15080795]

Tojo, K.; Sekijima, Y.; Kelly, J.W.; Ikeda, S. Diflunisal stabilizes familial amyloid polyneuropathy-associated transthyretin variant tetramers in serum against dissociation required for amyloidogenesis. Neurosci. Res., 2006, 56(4), 441-449.
[http://dx.doi.org/10.1016/j.neures.2006.08.014] [PMID: 17028027]

Coelho, T.; Maia, L.F.; Martins da Silva, A.; Waddington Cruz, M.; Planté-Bordeneuve, V.; Lozeron, P.; Suhr, O.B.; Campistol, J.M.; Conceição, I.M.; Schmidt, H.H.J.; Trigo, P.; Kelly, J.W.; Labaudinière, R.; Chan, J.; Packman, J.; Wilson, A.; Grogan, D.R. Tafamidis for transthyretin familial amyloid polyneuropathy: A randomized, controlled trial. Neurology, 2012, 79(8), 785-792.
[http://dx.doi.org/10.1212/WNL.0b013e3182661eb1] [PMID: 22843282]

Berk, J.L.; Suhr, O.B.; Obici, L.; Sekijima, Y.; Zeldenrust, S.R.; Yamashita, T.; Heneghan, M.A.; Gorevic, P.D.; Litchy, W.J.; Wiesman, J.F.; Nordh, E.; Corato, M.; Lozza, A.; Cortese, A.; Robinson-Papp, J.; Colton, T.; Rybin, D.V.; Bisbee, A.B.; Ando, Y.; Ikeda, S.; Seldin, D.C.; Merlini, G.; Skinner, M.; Kelly, J.W.; Dyck, P.J. Repurposing diflunisal for familial amyloid polyneuropathy: a randomized clinical trial. JAMA, 2013, 310(24), 2658-2667.
[http://dx.doi.org/10.1001/jama.2013.283815] [PMID: 24368466]

Gundapaneni, B.K.; Sultan, M.B.; Keohane, D.J.; Schwartz, J.H. Tafamidis delays neurological progression comparably across Val30Met and non-Val30Met genotypes in transthyretin familial amyloid polyneuropathy. Eur. J. Neurol., 2018, 25(3), 464-468.
[http://dx.doi.org/10.1111/ene.13510] [PMID: 29115008]

Planté-Bordeneuve, V.; Gorram, F.; Salhi, H.; Nordine, T.; Ayache, S.S.; Le Corvoisier, P.; Azoulay, D.; Feray, C.; Damy, T.; Lefaucheur, J.P. Long-term treatment of transthyretin familial amyloid polyneuropathy with tafamidis: a clinical and neurophysiological study. J. Neurol., 2017, 264(2), 268-276.
[http://dx.doi.org/10.1007/s00415-016-8337-3] [PMID: 27878441]

Barroso, F.A.; Judge, D.P.; Ebede, B.; Li, H.; Stewart, M.; Amass, L.; Sultan, M.B. Long-term safety and efficacy of tafamidis for the treatment of hereditary transthyretin amyloid polyneuropathy: results up to 6 years. Amyloid, 2017, 24(3), 194-204.
[http://dx.doi.org/10.1080/13506129.2017.1357545] [PMID: 28758793]

Cruz, M.W. Tafamidis for autonomic neuropathy in hereditary transthyretin (ATTR) amyloidosis: a review. Clin. Auton. Res., 2019, 29(S1)(Suppl. 1), 19-24.
[http://dx.doi.org/10.1007/s10286-019-00625-9] [PMID: 31407119]

Maurer, M.S.; Schwartz, J.H.; Gundapaneni, B.; Elliott, P.M.; Merlini, G.; Waddington-Cruz, M.; Kristen, A.V.; Grogan, M.; Witteles, R.; Damy, T.; Drachman, B.M.; Shah, S.J.; Hanna, M.; Judge, D.P.; Barsdorf, A.I.; Huber, P.; Patterson, T.A.; Riley, S.; Schumacher, J.; Stewart, M.; Sultan, M.B.; Rapezzi, C. Tafamidis treatment for patients with transthyretin amyloid cardiomyopathy. N. Engl. J. Med., 2018, 379(11), 1007-1016.
[http://dx.doi.org/10.1056/NEJMoa1805689] [PMID: 30145929]

Damy, T.; Garcia-Pavia, P.; Hanna, M.; Judge, D.P.; Merlini, G.; Gundapaneni, B.; Patterson, T.A.; Riley, S.; Schwartz, J.H.; Sultan, M.B.; Witteles, R. Efficacy and safety of tafamidis doses in the tafamidis in transthyretin cardiomyopathy clinical trial (ATTR‐ACT) and long‐term extension study. Eur. J. Heart Fail., 2021, 23(2), 277-285.
[http://dx.doi.org/10.1002/ejhf.2027] [PMID: 33070419]

Rocha, A.; Silva, A.; Cardoso, M.; Beirao, I.; Alves, C.; Teles, P.; Coelho, T.; Lobato, L. Transthyretin (ATTR) amyloidosis nephropathy: Lessons from a TTR stabilizer molecule. Amyloid 2017, 24(sup1), 81-82.
[http://dx.doi.org/10.1080/13506129.2016.1277697] [PMID: 28434370]

Ferrer-Nadal, A.; Ripoll, T.; Uson, M.; Figuerola, A.; Andreu, H.; Losada, I.; Gonzalez, J.; Cisneros-Barroso, E.; Buades, J. Significant reduction in proteinuria after treatment with tafamidis. Amyloid, 2019, 26(sup1), 67-68.
[http://dx.doi.org/10.1080/13506129.2019.1583186] [PMID: 31343359]

Monteiro, C.; Martins da Silva, A.; Ferreira, N.; Mesgarzadeh, J.; Novais, M.; Coelho, T.; Kelly, J.W. Cerebrospinal fluid and vitreous body exposure to orally administered tafamidis in hereditary ATTRV30M (p.TTRV50M) amyloidosis patients. Amyloid, 2018, 25(2), 120-128.
[http://dx.doi.org/10.1080/13506129.2018.1479249] [PMID: 29993288]

Sekijima, Y.; Tojo, K.; Morita, H.; Koyama, J.; Ikeda, S. Safety and efficacy of long-term diflunisal administration in hereditary transthyretin (ATTR) amyloidosis. Amyloid, 2015, 22(2), 79-83.
[http://dx.doi.org/10.3109/13506129.2014.997872] [PMID: 26017328]

Ibrahim, M.; Saint Croix, G.R.; Lacy, S.; Fattouh, M.; Barillas-Lara, M.I.; Behrooz, L.; Mechanic, O. The use of diflunisal for transthyretin cardiac amyloidosis: a review. Heart Fail. Rev., 2022, 27(2), 517-524.
[http://dx.doi.org/10.1007/s10741-021-10143-4] [PMID: 34272629]

Fox, J.C.; Hellawell, J.L.; Rao, S.; O’Reilly, T.; Lumpkin, R.; Jernelius, J.; Gretler, D.; Sinha, U. First‐in‐human study of AG10, a novel, oral, specific, selective, and potent transthyretin stabilizer for the treatment of transthyretin amyloidosis: A phase 1 safety, tolerability, pharmacokinetic, and pharmacodynamic study in healthy adult volunteers. Clin. Pharmacol. Drug Dev., 2020, 9(1), 115-129.
[http://dx.doi.org/10.1002/cpdd.700] [PMID: 31172685]

Judge, D.P.; Heitner, S.B.; Falk, R.H.; Maurer, M.S.; Shah, S.J.; Witteles, R.M.; Grogan, M.; Selby, V.N.; Jacoby, D.; Hanna, M.; Nativi-Nicolau, J.; Patel, J.; Rao, S.; Sinha, U.; Turtle, C.W.; Fox, J.C. Transthyretin stabilization by AG10 in symptomatic transthyretin amyloid cardiomyopathy. J. Am. Coll. Cardiol., 2019, 74(3), 285-295.
[http://dx.doi.org/10.1016/j.jacc.2019.03.012] [PMID: 30885685]

Pinheiro, F.; Varejão, N.; Esperante, S.; Santos, J.; Velázquez-Campoy, A.; Reverter, D.; Pallarès, I.; Ventura, S. Tolcapone, a potent aggregation inhibitor for the treatment of familial leptomeningeal amyloidosis. FEBS J., 2021, 288(1), 310-324.
[http://dx.doi.org/10.1111/febs.15339] [PMID: 32324953]

Gamez, J.; Salvadó, M.; Reig, N.; Suñé, P.; Casasnovas, C.; Rojas-Garcia, R.; Insa, R. Transthyretin stabilization activity of the catechol- O -methyltransferase inhibitor tolcapone (SOM0226) in hereditary ATTR amyloidosis patients and asymptomatic carriers: proof-of-concept study. Amyloid, 2019, 26(2), 74-84.
[http://dx.doi.org/10.1080/13506129.2019.1597702] [PMID: 31119947]

Cardoso, I.; Martins, D.; Ribeiro, T.; Merlini, G.; Saraiva, M.J. Synergy of combined Doxycycline/TUDCA treatment in lowering Transthyretin deposition and associated biomarkers: studies in FAP mouse models. J. Transl. Med., 2010, 8(1), 74.
[http://dx.doi.org/10.1186/1479-5876-8-74] [PMID: 20673327]

Obici, L.; Cortese, A.; Lozza, A.; Lucchetti, J.; Gobbi, M.; Palladini, G.; Perlini, S.; Saraiva, M.J.; Merlini, G. Doxycycline plus tauroursodeoxycholic acid for transthyretin amyloidosis: a phase II study. Amyloid, 2012, 19(sup1Suppl. 1), 34-36.
[http://dx.doi.org/10.3109/13506129.2012.678508] [PMID: 22551192]

Richards, D.B.; Cookson, L.M.; Berges, A.C.; Barton, S.V.; Lane, T.; Ritter, J.M.; Fontana, M.; Moon, J.C.; Pinzani, M.; Gillmore, J.D.; Hawkins, P.N.; Pepys, M.B. Therapeutic clearance of amyloid by antibodies to serum amyloid P component. N. Engl. J. Med., 2015, 373(12), 1106-1114.
[http://dx.doi.org/10.1056/NEJMoa1504942] [PMID: 26176329]

Adams, D.; Gonzalez-Duarte, A.; O’Riordan, W.D.; Yang, C.C.; Ueda, M.; Kristen, A.V.; Tournev, I.; Schmidt, H.H.; Coelho, T.; Berk, J.L.; Lin, K.P.; Vita, G.; Attarian, S.; Planté-Bordeneuve, V.; Mezei, M.M.; Campistol, J.M.; Buades, J.; Brannagan, T.H., III; Kim, B.J.; Oh, J.; Parman, Y.; Sekijima, Y.; Hawkins, P.N.; Solomon, S.D.; Polydefkis, M.; Dyck, P.J.; Gandhi, P.J.; Goyal, S.; Chen, J.; Strahs, A.L.; Nochur, S.V.; Sweetser, M.T.; Garg, P.P.; Vaishnaw, A.K.; Gollob, J.A.; Suhr, O.B. Patisiran, an RNAi therapeutic, for hereditary transthyretin amyloidosis. N. Engl. J. Med., 2018, 379(1), 11-21.
[http://dx.doi.org/10.1056/NEJMoa1716153] [PMID: 29972753]

Benson, M.D.; Waddington-Cruz, M.; Berk, J.L.; Polydefkis, M.; Dyck, P.J.; Wang, A.K.; Planté-Bordeneuve, V.; Barroso, F.A.; Merlini, G.; Obici, L.; Scheinberg, M.; Brannagan, T.H., III; Litchy, W.J.; Whelan, C.; Drachman, B.M.; Adams, D.; Heitner, S.B.; Conceição, I.; Schmidt, H.H.; Vita, G.; Campistol, J.M.; Gamez, J.; Gorevic, P.D.; Gane, E.; Shah, A.M.; Solomon, S.D.; Monia, B.P.; Hughes, S.G.; Kwoh, T.J.; McEvoy, B.W.; Jung, S.W.; Baker, B.F.; Ackermann, E.J.; Gertz, M.A.; Coelho, T. Inotersen treatment for patients with hereditary transthyretin amyloidosis. N. Engl. J. Med., 2018, 379(1), 22-31.
[http://dx.doi.org/10.1056/NEJMoa1716793] [PMID: 29972757]

Coelho, T.; Adams, D.; Silva, A.; Lozeron, P.; Hawkins, P.N.; Mant, T.; Perez, J.; Chiesa, J.; Warrington, S.; Tranter, E.; Munisamy, M.; Falzone, R.; Harrop, J.; Cehelsky, J.; Bettencourt, B.R.; Geissler, M.; Butler, J.S.; Sehgal, A.; Meyers, R.E.; Chen, Q.; Borland, T.; Hutabarat, R.M.; Clausen, V.A.; Alvarez, R.; Fitzgerald, K.; Gamba-Vitalo, C.; Nochur, S.V.; Vaishnaw, A.K.; Sah, D.W.Y.; Gollob, J.A.; Suhr, O.B. Safety and efficacy of RNAi therapy for transthyretin amyloidosis. N. Engl. J. Med., 2013, 369(9), 819-829.
[http://dx.doi.org/10.1056/NEJMoa1208760] [PMID: 23984729]

Suhr, O.B.; Coelho, T.; Buades, J.; Pouget, J.; Conceicao, I.; Berk, J.; Schmidt, H.; Waddington-Cruz, M.; Campistol, J.M.; Bettencourt, B.R.; Vaishnaw, A.; Gollob, J.; Adams, D. Efficacy and safety of patisiran for familial amyloidotic polyneuropathy: a phase II multi-dose study. Orphanet J. Rare Dis., 2015, 10(1), 109.
[http://dx.doi.org/10.1186/s13023-015-0326-6] [PMID: 26338094]

Butler, J.S.; Chan, A.; Costelha, S.; Fishman, S.; Willoughby, J.L.S.; Borland, T.D.; Milstein, S.; Foster, D.J.; Gonçalves, P.; Chen, Q.; Qin, J.; Bettencourt, B.R.; Sah, D.W.; Alvarez, R.; Rajeev, K.G.; Manoharan, M.; Fitzgerald, K.; Meyers, R.E.; Nochur, S.V.; Saraiva, M.J.; Zimmermann, T.S. Preclinical evaluation of RNAi as a treatment for transthyretin-mediated amyloidosis. Amyloid, 2016, 23(2), 109-118.
[http://dx.doi.org/10.3109/13506129.2016.1160882] [PMID: 27033334]

Adams, D.; Polydefkis, M.; González-Duarte, A.; Wixner, J.; Kristen, A.V.; Schmidt, H.H.; Berk, J.L.; Losada López, I.A.; Dispenzieri, A.; Quan, D.; Conceição, I.M.; Slama, M.S.; Gillmore, J.D.; Kyriakides, T.; Ajroud-Driss, S.; Waddington-Cruz, M.; Mezei, M.M.; Planté-Bordeneuve, V.; Attarian, S.; Mauricio, E.; Brannagan, T.H., III; Ueda, M.; Aldinc, E.; Wang, J.J.; White, M.T.; Vest, J.; Berber, E.; Sweetser, M.T.; Coelho, T.; Vita, G.; Rizzo, V.; Russo, M.; Mazzeo, A.; Gentile, L.; Berk, J.L.; Brueckner, C.; Lazzari, V.; Wiesman, J.; DeLong, D.; Victory, J.; Dalton, J.; May, J.; Gilmore, C.; Attarian, S.; Diallo, S.; Delmont, E.; Pouget, J.; Verschueren, A.; Grapperon, A-M.; Campana-Salort, E.; Conceição, I.M.; Lopes, A.; Lamas, F.; Neves, C.; Castro, J.; Pereira, P.; Castro, I.; Franco, A.; Santos, M.O.; de Azevedo Coutinho, C.; Falcao de Campos, C.; Coelho, T.; Hipólito Reis, A.; Correia, N.; Perez, J.M.; Martins da Silva, A.; Alves, C.; Cardoso, M.; Valdrez, K.; Monte, J.R.; Pessoa, B.; Guimaraes, N.; Freitas, M.; Ramalho, J.; Ferreira, N.; Kuzume, D.; Tard, C.; Waucquier, N.; Rougeaux, I.; Brice, S.; Kasprzyk, E.; Elrezzi, E.; Meguig, S.; Hachulla, E.; Gauvain, C.; Migaud-Chervy, M-C.; Deplanque, D.; Jozefowicz, E.; Lebellec, L.; Adams, D.; Balaya-Gouraya, L.; Jehan Lacour, N.; Bournane, H.; Martin, N.; Elabed, M.; Sacko, N.; Boubrit, Y.; Gaouar, A.; Rakotondratafika, F.; Théaudin-Saliou, M.; Cauquil-Michon, C.; Labeyrie, C.; Not, A.; Al-Salameh, A.; Lecoq, A-L.; Stephant, M.; Echaniz-Laguna, A.; Becquemont, L.; Beaudonnet, G.; Algalarrondo, V.; Eliahou, L.; Slama, M.S.; Rousseau, A.; Signate, A.; Berthelot, E.; Inamo, J.; Planté-Bordeneuve, V.; Vervoitte, L.; Focseneanu, C.; Gendre, T.; Arrouasse, R.; Ayache, S.S.; Ernande, L.; Le Corvoisier, P.; Salhi, H.; Choumert, A.; Ehinger, V.; Ruiz, J.; Charlin, C.; Megelin, T.; Brannagan, T.H., III; Fayerman, R.; Kim, A.; Paras, A.; Gonzalez, L.J.; Tsang, S.; Wajnsztajn, F.; Shije, J.; Ulane, C.; Kleyman, I.; Weimer, L.; Cioroiu, C.; Lambrianides, S.; Abu-Manneh, R.; Zamba-Papanicolaou, E.; Agathangelou, P.; Leonidou, E.; Tada, S.; Fujita, A.; Nagai, M.; Ando, R.; Hosokawa, Y.; Yamanishi, Y.; Overcash, J.S.; Giardino, E.; Boyer, L.; Dang, L.; Le, A.; Nguyen, T.; Giang, L.; Sellers, P.; Tran, L.; Truong, N.; Vinas, M.; Hrkman, N.; Miller, S.; Nguyen, D.; Smith, A.; Pu, H.; Li, S.; Vuong, T.; Dioso, H.; Green, S.; Lee, K.; Chu, H.; Waters, M.; Coskun, D.J.; Zepeda, K.A.; O’Riordan, W.; Obici, L.; Cortese, A.; Lozza, A.; Merlini, G.; Rosti, V.; Sabatelli, M.; Bisogni, G.; Bernardo, D.; Luigetti, M.; Di Paolantonio, A.; Guglielmino, V.; Bisogni, G.; Romano, A.; Nienhuis, H.; Bulthuis-Kuiper, J.; Kristen, A.V.; Gerk, O.; Ulbricht, H.; Taylor, L.; Meyle, E.; Kleinschmidt, N.; Meyrath, D.; Noe-Schwenn, S.; Meng, U.; Bauer, R.; aus dem Siepen, F.; Hein, S.; Takahashi, T.; Oshita, T.; Koujin, Y.; Neshige, S.; Nezu, T.; Segawa, A.; Ueno, H.; Morino, H.; Campistol, J.M.; Rodas Marin, L.M.; Blasco, P.J.M.; Dávila, L.G.; Palacios, M.; Pytel Cordoba, V.; Guerrero, S.A.; Horga, A.; García, F.J.; Perez de Isla, L.; Marques Júnior, W.; Moscardini, M.; Litcanov, D.C.; Viera Lima, A.F.; Rodrigues, L.; Marques, C.B.; Moreira, C.L.; Daccach, M.V.; Munoz, B.F.; Gragera Martínez, Á.; Borrachero, C.; Losada, L.I.A.; Cisneros Barroso, E.; Rodríguez, R.A.; Sanz, M.; Rigo Oliver, E.; González Moreno, J.; Gamez Martinez, J.M.; Descals, C.; Uson, M.; Jose Vega, F.; Figuerola, A.; Montala, C.; Waddington-Cruz, M.; Dias da Silva, M.; Gervais de Santa Rosa, R.; Pinto, L.F.; Pinto, M.V.; Cardoso Berensztejn, A.; Barroso, F.; Lautre, A.; Orellana, L.G.; González-Duarte Briseño, M.A.; Cárdenas-Soto, K.; Jiménez López, B.P.; Pérez-Castañeda, S.L.; Cantú, B.C.G.; Rivera de la Parra, D.; Hernandez Reyes, J.P.; del Mar Saniger Alba, M.; Criollo Mora, E.; Parman, Y.; Rezzan, K.J.; Sahin, E.; Serbest, N.G.; Durmus, H.; Cakar, A.; Tugal Tutkun, N.I.; Karamursel, S.; Elitok, A.; Sirin Inan, N.G.; Altinkurt, E.; Polydefkis, M.; Ye, J.; Allen, A.C.; Chaudhry, V.; Jarrett, R.; Bressler, N.; Burks, K.L.; Liu, Q.; Khoshnoodi, M.; Judge, D.P.; Vista, G.; Shah, S.M.; Hamaguchi, H.; Oda, J.; Fukase, E.; Taniguchi, I.; Oda, T.; Endo, H.; Shimomura, M.; Katanazaka, K.; Koto, S.; Nakano, T.; Scheid, C.; Zueiter, A.; Pester, L.; Walter, D.; Özdemir, B.; Frenzel, L.F.; Holtick, U.; Oh, J.; Kim, H.J.; Shin, H.J.; Choi, K.; Yamashita, T.; Ueda, M.; Masuda, T.; Misumi, Y.; Ueda, A.; Nakahara, K.; Yorita, A.; Tsuruhisa, S.; Taniwaki, T.; Harada, M.; Moritaka, T.; Sakurada, N.; Mauricio, E.A.; Baskin, A.; Dimberg, E.; Dispenzieri, A.; Fonder, A.; Hobbs, M.; Russell, S.J.; Dyck, P.; Gonsalves, W.; Leung, N.; Witzig, T.E.; Zeldenrust, S.R.; Hwa, L.; Kapoor, P.; Kumar, S.K.; Lin, Y.; Lust, J.A.; Rajkumar, V.S.; Dingli, D.; Gertz, M.A.; Go, R.; Hayman, S.R.; Dalia, S.; Carrillo, E.; Gorevic, P.; Mason, G.; Chao, C-C.; Lee, M-J.; Su, J-J.; Hsieh, S-T.; Tsai, L-K.; Yeh, S-J.; Yang, C-C.; Ajroud-Driss, S.A-D.; Casey, P.; Joslin, B.C.; Freimer, M.; Sankey, A.; Kenepp, A.; Heintzman, S.; LoRusso, S.; Hokezu, Y.; Kim, B-J.; Kim, J.H.; Lee, G.Y.; Cho, E.B.; Jeon, E-S.; Min, J-H.; Seok, J.M.; Lee, H.L.; Park, J.H.; Sekijima, Y.; Miyazawa, C.; Kato, N.; Kishida, D.; Hineno, A.; Kodaira, M.; Yoshinaga, T.; Miyahara, T.; Imai, A.; Matsumoto, K.; Lin, K-P.; Lee, Y-C.; Wixner, J.; Falk, M.; Pilebro, B.; Suhr, O.; Lindqvist, P.; Soderberg, K.; Pedrosa-Domellöf, F.; Anan, I.; Nordh, E.; Tournev, I.; Zhelyazkova-Glaveeva, S.; Cherneva, Z.; Sarafov, S.; Chamova, T.; Cherninkova-Gopina, S.; Schmidt, H.H.; Friebel, F.; Zibert, A.; Mihailovic, N.; Schubert, F.; Vorona, E.; Lahme, L.; Huesing-Kabar, A.; Schilling, M.; Kabar, I.; Gillmore, J.D.; Martinez-Naharro, A.; Chacko, L.; Cohen, O.; Law, S.; Rezk, T.; Lachmann, H.J.; Quan, D.; Blume, B.; Dixon, S.; Low, S.C.; Chan, S.L.; Lim, H.E.L.; Goh, K.J.; Mezei, M.M.; Kraus, D.; Jack, K.; Wade, N.K.; Lopate, G.; Zwijack, B.; Florence, J.; Sommerville, R.B.; Stewart, G.; Ryder, J.; Mekhael, L.; Taylor, M.; Suan, D.; Wells, K.; Stone, P.; Wells, K.; Itoya, A.; Owusu-Sekyere, M.; Thai, D.; Chahine, I.; Pedrosa, S.; Do, T.H.T. Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study. Lancet Neurol., 2021, 20(1), 49-59.
[http://dx.doi.org/10.1016/S1474-4422(20)30368-9] [PMID: 33212063]

Solomon, S.D.; Adams, D.; Kristen, A.; Grogan, M.; González-Duarte, A.; Maurer, M.S.; Merlini, G.; Damy, T.; Slama, M.S.; Brannagan, T.H., III; Dispenzieri, A.; Berk, J.L.; Shah, A.M.; Garg, P.; Vaishnaw, A.; Karsten, V.; Chen, J.; Gollob, J.; Vest, J.; Suhr, O. Effects of patisiran, an RNA interference therapeutic, on cardiac parameters in patients with hereditary transthyretin-mediated amyloidosis. Circulation, 2019, 139(4), 431-443.
[http://dx.doi.org/10.1161/CIRCULATIONAHA.118.035831] [PMID: 30586695]

Bulinski, C.; Discher, T.; Rutsatz, W.; Assmus, B.; Krämer, H.H. Clinical improvement after change of therapy from tafamidis to patisiran in progressive TTR amyloidosis post-liver transplantation. J. Neurol., 2022, 269(7), 3912-3914.
[http://dx.doi.org/10.1007/s00415-022-10978-3] [PMID: 35124750]

Schmidt, H.H.; Wixner, J.; Planté-Bordeneuve, V.; Muñoz-Beamud, F.; Lladó, L.; Gillmore, J.D.; Mazzeo, A.; Li, X.; Arum, S.; Jay, P.Y.; Adams, D.; Langestroer, C.; Huesing-Kabar, A.; Schilling, M.; Kabar, I.; Backlund, R.; Anan, I.; Nordh, E.; Uneus, E.; Pilebro, B.; Englund, U.; Coelho, T.; Novais, M.; Perez, J.; Martins da Silva, A.; Pesseguerio, M.H.; Ramalho, J.; Monte, R.; Alves, C.; Cardaso, I.; Guimaraes, N.; Gentile, L.; Russo, M.; Di Bella, G.; Gaouar, A.; Cauquil-Michon, C.; Kounis, I.; Echaniz-Laguna, A.; Stéphant, M.; Rakotondratafika, F.; Boubrit, Y.; Labeyrie, C.; Focsenaunu, C.; Le Corvoisier, P.; Ayache, S.S.; Gendre, T.; Vervoitte, L.; Arrouasse, R.; Gragera, M.A.; Borrachero, C.; Manovel, A.; Diaz Rodriguez, E.; Gutiérrez, G.M.; Fabra, J.E.; Valentina Vélez Santamaría, P.; Martínez Vilar, Y.; Cachero, A.; Rannigan, L.; Fontana, M.; Orrell, R.; Louth, S.; Chacko, L.; Varughese, S.; Throburn, D.; Cohen, O.; Law, S.; Smit, A.; Strehina, S. Patisiran treatment in patients with hereditary transthyretin‐mediated amyloidosis with polyneuropathy after liver transplantation. Am. J. Transplant., 2022, 22(6), 1646-1657.
[http://dx.doi.org/10.1111/ajt.17009] [PMID: 35213769]

Planté-Bordeneuve, V.; Lin, H.; Gollob, J.; Agarwal, S.; Betts, M.; Fahrbach, K.; Chitnis, M.; Polydefkis, M. An indirect treatment comparison of the efficacy of patisiran and tafamidis for the treatment of hereditary transthyretin-mediated amyloidosis with polyneuropathy. Expert Opin. Pharmacother., 2019, 20(4), 473-481.
[http://dx.doi.org/10.1080/14656566.2018.1554648] [PMID: 30489166]

Gonçalves, P.; Martins, H.; Costelha, S.; Maia, L.F.; Saraiva, M.J. Efficiency of silencing RNA for removal of transthyretin V30M in a TTR leptomeningeal animal model. Amyloid, 2016, 23(4), 249-253.
[http://dx.doi.org/10.1080/13506129.2016.1256282] [PMID: 27884058]

Habtemariam, B.A.; Karsten, V.; Attarwala, H.; Goel, V.; Melch, M.; Clausen, V.A.; Garg, P.; Vaishnaw, A.K.; Sweetser, M.T.; Robbie, G.J.; Vest, J. Single‐dose pharmacokinetics and pharmacodynamics of transthyretin targeting N‐acetylgalactosamine-small interfering ribonucleic acid conjugate, vutrisiran, in healthy subjects. Clin. Pharmacol. Ther., 2021, 109(2), 372-382.
[http://dx.doi.org/10.1002/cpt.1974] [PMID: 32599652]

Brannagan, T.H.; Wang, A.K.; Coelho, T.; Waddington Cruz, M.; Polydefkis, M.J.; Dyck, P.J.; Plante-Bordeneuve, V.; Berk, J.L.; Barroso, F.; Merlini, G.; Conceição, I.; Hughes, S.G.; Kwoh, J.; Jung, S.W.; Guthrie, S.; Pollock, M.; Benson, M.D.; Gertz, M.; Drachman, B.; Gorevic, P.; Heitner, S.; Scheinberg, M.; Schmidt, H.; Whelan, C.; Adams, D.; Campistol, P.J.M.; Gamez, J.; Gane, E.; Kristen, A.; Obici, L.; Salvi, F.; Souza Bulle Oliveira, A.; Vita, G. Early data on long‐term efficacy and safety of inotersen in patients with hereditary transthyretin amyloidosis: a 2‐year update from the open‐label extension of the NEURO‐TTR trial. Eur. J. Neurol., 2020, 27(8), 1374-1381.
[http://dx.doi.org/10.1111/ene.14285] [PMID: 32343462]

Benson, M.D.; Dasgupta, N.R.; Monia, B.P. Inotersen (transthyretin-specific antisense oligonucleotide) for treatment of transthyretin amyloidosis. Neurodegener. Dis. Manag., 2019, 9(1), 25-30.
[http://dx.doi.org/10.2217/nmt-2018-0037] [PMID: 30561247]

Benson, M.D.; Kluve-Beckerman, B.; Zeldenrust, S.R.; Siesky, A.M.; Bodenmiller, D.M.; Showalter, A.D.; Sloop, K.W. Targeted suppression of an amyloidogenic transthyretin with antisense oligonucleotides. Muscle Nerve, 2006, 33(5), 609-618.
[http://dx.doi.org/10.1002/mus.20503] [PMID: 16421881]

Coelho, T.; Ando, Y.; Benson, M.D.; Berk, J.L.; Waddington-Cruz, M.; Dyck, P.J.; Gillmore, J.D.; Khella, S.L.; Litchy, W.J.; Obici, L.; Monteiro, C.; Tai, L.J.; Viney, N.J.; Buchele, G.; Brambatti, M.; Jung, S.W.; St, L. O’Dea, L.; Tsimikas, S.; Schneider, E.; Geary, R.S.; Monia, B.P.; Gertz, M. Design and rationale of the global phase 3 NEURO-Ttransform study of antisense oligonucleotide AKCEA-TTR-LRx (ION-682884-CS3) in hereditary transthyretin-mediated amyloid polyneuropathy. Neurol. Ther., 2021, 10(1), 375-389.
[http://dx.doi.org/10.1007/s40120-021-00235-6] [PMID: 33638113]

Dasgupta, N.R.; Rissing, S.M.; Smith, J.; Jung, J.; Benson, M.D. Inotersen therapy of transthyretin amyloid cardiomyopathy. Amyloid, 2020, 27(1), 52-58.
[http://dx.doi.org/10.1080/13506129.2019.1685487] [PMID: 31713445]

Benson, M.D.; Smith, R.A.; Hung, G.; Kluve-Beckerman, B.; Showalter, A.D.; Sloop, K.W.; Monia, B.P. Suppression of choroid plexus transthyretin levels by antisense oligonucleotide treatment. Amyloid, 2010, 17(2), 43-49.
[http://dx.doi.org/10.3109/13506129.2010.483121] [PMID: 20462362]

Marques, J.H.; Coelho, J.; Menéres, M.J.; Beirão, J.M. Progressive vitreous deposits during treatment with inotersen for hereditary ATTR amyloidosis. Amyloid, 2021, 28(4), 275-276.
[http://dx.doi.org/10.1080/13506129.2021.1975673] [PMID: 34498503]

Moshe-Lilie, O.; Dimitrova, D.; Heitner, S.B.; Brannagan, T.H., III; Zivkovic, S.; Hanna, M.; Masri, A.; Polydefkis, M.; Berk, J.L.; Gertz, M.A.; Karam, C. TTR gene silencing therapy in post liver transplant hereditary ATTR amyloidosis patients. Amyloid, 2020, 27(4), 250-253.
[http://dx.doi.org/10.1080/13506129.2020.1784134] [PMID: 32578459]

Finn, J.D.; Smith, A.R.; Patel, M.C.; Shaw, L.; Youniss, M.R.; van Heteren, J.; Dirstine, T.; Ciullo, C.; Lescarbeau, R.; Seitzer, J.; Shah, R.R.; Shah, A.; Ling, D.; Growe, J.; Pink, M.; Rohde, E.; Wood, K.M.; Salomon, W.E.; Harrington, W.F.; Dombrowski, C.; Strapps, W.R.; Chang, Y.; Morrissey, D.V. A single administration of CRISPR/Cas9 lipid nanoparticles achieves robust and persistent in vivo genome editing. Cell Rep., 2018, 22(9), 2227-2235.
[http://dx.doi.org/10.1016/j.celrep.2018.02.014] [PMID: 29490262]

Gillmore, J.D.; Gane, E.; Taubel, J.; Kao, J.; Fontana, M.; Maitland, M.L.; Seitzer, J.; O’Connell, D.; Walsh, K.R.; Wood, K.; Phillips, J.; Xu, Y.; Amaral, A.; Boyd, A.P.; Cehelsky, J.E.; McKee, M.D.; Schiermeier, A.; Harari, O.; Murphy, A.; Kyratsous, C.A.; Zambrowicz, B.; Soltys, R.; Gutstein, D.E.; Leonard, J.; Sepp-Lorenzino, L.; Lebwohl, D. CRISPR-Cas9 in vivo gene editing for transthyretin amyloidosis. N. Engl. J. Med., 2021, 385(6), 493-502.
[http://dx.doi.org/10.1056/NEJMoa2107454] [PMID: 34215024]