| Structural highlights
Disease
TTHY_HUMAN Defects in TTR are the cause of amyloidosis transthyretin-related (AMYL-TTR) [MIM:105210. A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor.[1] [2] [3] [4] [5] [6] [7] [8] [9] [10] [11] [12] [13] [14] [15] [16] [17] [18] [19] [20] [21] [22] [23] [24] [25] [26] [27] [28] [29] [30] [31] [32] [33] [34] [35] [36] [37] [38] [39] [40] [41] [42] [43] [44] [45] [46] [47] [48] [49] [50] [51] [52] [53] [54] [55] [56] [57] [58] [59] [60] [61] [62] [63] [64] [65] [66] [67] [68] [69] [70] [71] [72] Defects in TTR are a cause of hyperthyroxinemia dystransthyretinemic euthyroidal (HTDE) [MIM:145680. It is a condition characterized by elevation of total and free thyroxine in healthy, euthyroid persons without detectable binding protein abnormalities.[73] Defects in TTR are a cause of carpal tunnel syndrome type 1 (CTS1) [MIM:115430. It is a condition characterized by entrapment of the median nerve within the carpal tunnel. Symptoms include burning pain and paresthesias involving the ventral surface of the hand and fingers which may radiate proximally. Impairment of sensation in the distribution of the median nerve and thenar muscle atrophy may occur. This condition may be associated with repetitive occupational trauma, wrist injuries, amyloid neuropathies, rheumatoid arthritis.[74]
Function
TTHY_HUMAN Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.[75]
Publication Abstract from PubMed
The Ser52Pro variant of transthyretin (TTR) produces aggressive, highly penetrant, autosomal-dominant systemic amyloidosis in persons heterozygous for the causative mutation. Together with a minor quantity of full-length wild-type and variant TTR, the main component of the ex vivo fibrils was the residue 49-127 fragment of the TTR variant, the portion of the TTR sequence that previously has been reported to be the principal constituent of type A, cardiac amyloid fibrils formed from wild-type TTR and other TTR variants [Bergstrom J, et al. (2005) J Pathol 206(2):224-232]. This specific truncation of Ser52Pro TTR was generated readily in vitro by limited proteolysis. In physiological conditions and under agitation the residue 49-127 proteolytic fragment rapidly and completely self-aggregates into typical amyloid fibrils. The remarkable susceptibility to such cleavage is likely caused by localized destabilization of the beta-turn linking strands C and D caused by loss of the wild-type hydrogen-bonding network between the side chains of residues Ser52, Glu54, Ser50, and a water molecule, as revealed by the high-resolution crystallographic structure of Ser52Pro TTR. We thus provide a structural basis for the recently hypothesized, crucial pathogenic role of proteolytic cleavage in TTR amyloid fibrillogenesis. Binding of the natural ligands thyroxine or retinol-binding protein (RBP) by Ser52Pro variant TTR stabilizes the native tetrameric assembly, but neither protected the variant from proteolysis. However, binding of RBP, but not thyroxine, inhibited subsequent fibrillogenesis.
Proteolytic cleavage of Ser52Pro variant transthyretin triggers its amyloid fibrillogenesis.,Mangione PP, Porcari R, Gillmore JD, Pucci P, Monti M, Porcari M, Giorgetti S, Marchese L, Raimondi S, Serpell LC, Chen W, Relini A, Marcoux J, Clatworthy IR, Taylor GW, Tennent GA, Robinson CV, Hawkins PN, Stoppini M, Wood SP, Pepys MB, Bellotti V Proc Natl Acad Sci U S A. 2014 Jan 28;111(4):1539-44. doi:, 10.1073/pnas.1317488111. Epub 2014 Jan 13. PMID:24474780[76]
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.
See Also
References
- ↑ Sebastiao MP, Lamzin V, Saraiva MJ, Damas AM. Transthyretin stability as a key factor in amyloidogenesis: X-ray analysis at atomic resolution. J Mol Biol. 2001 Mar 2;306(4):733-44. PMID:11243784 doi:10.1006/jmbi.2000.4415
- ↑ Neto-Silva RM, Macedo-Ribeiro S, Pereira PJ, Coll M, Saraiva MJ, Damas AM. X-ray crystallographic studies of two transthyretin variants: further insights into amyloidogenesis. Acta Crystallogr D Biol Crystallogr. 2005 Mar;61(Pt 3):333-9. Epub 2005, Feb 24. PMID:15735344 doi:10.1107/S0907444904034316
- ↑ Ruiz-Canada C, Kelleher DJ, Gilmore R. Cotranslational and posttranslational N-glycosylation of polypeptides by distinct mammalian OST isoforms. Cell. 2009 Jan 23;136(2):272-83. doi: 10.1016/j.cell.2008.11.047. PMID:19167329 doi:10.1016/j.cell.2008.11.047
- ↑ Mita S, Maeda S, Shimada K, Araki S. Analyses of prealbumin mRNAs in individuals with familial amyloidotic polyneuropathy. J Biochem. 1986 Nov;100(5):1215-22. PMID:3818577
- ↑ Maeda S, Mita S, Araki S, Shimada K. Structure and expression of the mutant prealbumin gene associated with familial amyloidotic polyneuropathy. Mol Biol Med. 1986 Aug;3(4):329-38. PMID:3022108
- ↑ Tawara S, Nakazato M, Kangawa K, Matsuo H, Araki S. Identification of amyloid prealbumin variant in familial amyloidotic polyneuropathy (Japanese type). Biochem Biophys Res Commun. 1983 Nov 15;116(3):880-8. PMID:6651852
- ↑ Dwulet FE, Benson MD. Primary structure of an amyloid prealbumin and its plasma precursor in a heredofamilial polyneuropathy of Swedish origin. Proc Natl Acad Sci U S A. 1984 Feb;81(3):694-8. PMID:6583672
- ↑ Cornwell GG 3rd, Sletten K, Johansson B, Westermark P. Evidence that the amyloid fibril protein in senile systemic amyloidosis is derived from normal prealbumin. Biochem Biophys Res Commun. 1988 Jul 29;154(2):648-53. PMID:3135807
- ↑ Kametani F, Ikeda S, Yanagisawa N, Ishi T, Hanyu N. Characterization of a transthyretin-related amyloid fibril protein from cerebral amyloid angiopathy in type I familial amyloid polyneuropathy. J Neurol Sci. 1992 Apr;108(2):178-83. PMID:1517749
- ↑ Harding J, Skare J, Skinner M. A second transthyretin mutation at position 33 (Leu/Phe) associated with familial amyloidotic polyneuropathy. Biochim Biophys Acta. 1991 Oct 21;1097(3):183-6. PMID:1932142
- ↑ Skare J, Jones LA, Myles N, Kane K, Milunsky A, Cohen A, Skinner M. Two transthyretin mutations (glu42gly, his90asn) in an Italian family with amyloidosis. Clin Genet. 1994 Jun;45(6):281-4. PMID:7923855
- ↑ Terry CJ, Damas AM, Oliveira P, Saraiva MJ, Alves IL, Costa PP, Matias PM, Sakaki Y, Blake CC. Structure of Met30 variant of transthyretin and its amyloidogenic implications. EMBO J. 1993 Feb;12(2):735-41. PMID:8382610
- ↑ Hamilton JA, Steinrauf LK, Braden BC, Liepnieks J, Benson MD, Holmgren G, Sandgren O, Steen L. The x-ray crystal structure refinements of normal human transthyretin and the amyloidogenic Val-30-->Met variant to 1.7-A resolution. J Biol Chem. 1993 Feb 5;268(4):2416-24. PMID:8428915
- ↑ Sebastiao MP, Saraiva MJ, Damas AM. The crystal structure of amyloidogenic Leu55 --> Pro transthyretin variant reveals a possible pathway for transthyretin polymerization into amyloid fibrils. J Biol Chem. 1998 Sep 18;273(38):24715-22. PMID:9733771
- ↑ Eneqvist T, Olofsson A, Ando Y, Miyakawa T, Katsuragi S, Jass J, Lundgren E, Sauer-Eriksson AE. Disulfide-bond formation in the transthyretin mutant Y114C prevents amyloid fibril formation in vivo and in vitro. Biochemistry. 2002 Nov 5;41(44):13143-51. PMID:12403615
- ↑ Karlsson A, Olofsson A, Eneqvist T, Sauer-Eriksson AE. Cys114-linked dimers of transthyretin are compatible with amyloid formation. Biochemistry. 2005 Oct 4;44(39):13063-70. PMID:16185074 doi:10.1021/bi050795s
- ↑ Morais-de-Sa E, Neto-Silva RM, Pereira PJ, Saraiva MJ, Damas AM. The binding of 2,4-dinitrophenol to wild-type and amyloidogenic transthyretin. Acta Crystallogr D Biol Crystallogr. 2006 May;62(Pt 5):512-9. Epub 2006, Apr 19. PMID:16627944 doi:10.1107/S0907444906006962
- ↑ Nakazato M, Kangawa K, Minamino N, Tawara S, Matsuo H, Araki S. Revised analysis of amino acid replacement in a prealbumin variant (SKO-III) associated with familial amyloidotic polyneuropathy of Jewish origin. Biochem Biophys Res Commun. 1984 Sep 28;123(3):921-8. PMID:6487335
- ↑ Wallace MR, Dwulet FE, Conneally PM, Benson MD. Biochemical and molecular genetic characterization of a new variant prealbumin associated with hereditary amyloidosis. J Clin Invest. 1986 Jul;78(1):6-12. PMID:3722385 doi:https://dx.doi.org/10.1172/JCI112573
- ↑ Wallace MR, Dwulet FE, Williams EC, Conneally PM, Benson MD. Identification of a new hereditary amyloidosis prealbumin variant, Tyr-77, and detection of the gene by DNA analysis. J Clin Invest. 1988 Jan;81(1):189-93. PMID:2891727 doi:https://dx.doi.org/10.1172/JCI113293
- ↑ Ueno S, Uemichi T, Yorifuji S, Tarui S. A novel variant of transthyretin (Tyr114 to Cys) deduced from the nucleotide sequences of gene fragments from familial amyloidotic polyneuropathy in Japanese sibling cases. Biochem Biophys Res Commun. 1990 May 31;169(1):143-7. PMID:2161654
- ↑ Ueno S, Uemichi T, Takahashi N, Soga F, Yorifuji S, Tarui S. Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuropathy: transthyretin (Glu42 to Gly) and transthyretin (Ser50 to Arg). Biochem Biophys Res Commun. 1990 Jun 29;169(3):1117-21. PMID:2363717
- ↑ Saeki Y, Ueno S, Yorifuji S, Sugiyama Y, Ide Y, Matsuzawa Y. New mutant gene (transthyretin Arg 58) in cases with hereditary polyneuropathy detected by non-isotope method of single-strand conformation polymorphism analysis. Biochem Biophys Res Commun. 1991 Oct 15;180(1):380-5. PMID:1656975
- ↑ Ii S, Minnerath S, Ii K, Dyck PJ, Sommer SS. Two-tiered DNA-based diagnosis of transthyretin amyloidosis reveals two novel point mutations. Neurology. 1991 Jun;41(6):893-8. PMID:2046936
- ↑ Saraiva MJ, Almeida Mdo R, Sherman W, Gawinowicz M, Costa P, Costa PP, Goodman DS. A new transthyretin mutation associated with amyloid cardiomyopathy. Am J Hum Genet. 1992 May;50(5):1027-30. PMID:1570831
- ↑ Murakami T, Maeda S, Yi S, Ikegawa S, Kawashima E, Onodera S, Shimada K, Araki S. A novel transthyretin mutation associated with familial amyloidotic polyneuropathy. Biochem Biophys Res Commun. 1992 Jan 31;182(2):520-6. PMID:1734866
- ↑ Murakami T, Atsumi T, Maeda S, Tanase S, Ishikawa K, Mita S, Kumamoto T, Araki S, Ando M. A novel transthyretin mutation at position 30 (Leu for Val) associated with familial amyloidotic polyneuropathy. Biochem Biophys Res Commun. 1992 Aug 31;187(1):397-403. PMID:1520326
- ↑ Nishi H, Kimura A, Harada H, Hayashi Y, Nakamura M, Sasazuki T. Novel variant transthyretin gene (Ser50 to Ile) in familial cardiac amyloidosis. Biochem Biophys Res Commun. 1992 Aug 31;187(1):460-6. PMID:1520336
- ↑ Jones LA, Skare JC, Cohen AS, Harding JA, Milunsky A, Skinner M. Familial amyloidotic polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of German descent. Clin Genet. 1992 Feb;41(2):70-3. PMID:1544214
- ↑ Jacobson DR, McFarlin DE, Kane I, Buxbaum JN. Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement. Hum Genet. 1992 May;89(3):353-6. PMID:1351039
- ↑ Almeida MR, Ferlini A, Forabosco A, Gawinowicz M, Costa PP, Salvi F, Plasmati R, Tassinari CA, Altland K, Saraiva MJ. Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosis. Hum Mutat. 1992;1(3):211-5. PMID:1301926 doi:https://dx.doi.org/10.1002/humu.1380010306
- ↑ Uemichi T, Murrell JR, Zeldenrust S, Benson MD. A new mutant transthyretin (Arg 10) associated with familial amyloid polyneuropathy. J Med Genet. 1992 Dec;29(12):888-91. PMID:1362222
- ↑ Izumoto S, Younger D, Hays AP, Martone RL, Smith RT, Herbert J. Familial amyloidotic polyneuropathy presenting with carpal tunnel syndrome and a new transthyretin mutation, asparagine 70. Neurology. 1992 Nov;42(11):2094-102. PMID:1436517
- ↑ Shiomi K, Nakazato M, Matsukura S, Ohnishi A, Hatanaka H, Tsuji S, Murai Y, Kojima M, Kangawa K, Matsuo H. A basic transthyretin variant (Glu61-->Lys) causes familial amyloidotic polyneuropathy: protein and DNA sequencing and PCR-induced mutation restriction analysis. Biochem Biophys Res Commun. 1993 Aug 16;194(3):1090-6. PMID:8352764 doi:https://dx.doi.org/S0006-291X(83)71933-9
- ↑ Hesse A, Altland K, Linke RP, Almeida MR, Saraiva MJ, Steinmetz A, Maisch B. Cardiac amyloidosis: a review and report of a new transthyretin (prealbumin) variant. Br Heart J. 1993 Aug;70(2):111-5. PMID:8038017
- ↑ Almeida Mdo R, Lopez-Andreu F, Munar-Ques M, Costa PP, Saraiva MJ. Transthyretin ALA 71: a new transthyretin variant in a Spanish family with familial amyloidotic polyneuropathy. Hum Mutat. 1993;2(5):420-1. PMID:8257997 doi:https://dx.doi.org/10.1002/humu.1380020516
- ↑ Benson MD 2nd, Turpin JC, Lucotte G, Zeldenrust S, LeChevalier B, Benson MD. A transthyretin variant (alanine 71) associated with familial amyloidotic polyneuropathy in a French family. J Med Genet. 1993 Feb;30(2):120-2. PMID:8095302
- ↑ Skare JC, Milunsky JM, Milunsky A, Skare IB, Cohen AS, Skinner M. A new transthyretin variant from a patient with familial amyloidotic polyneuropathy has asparagine substituted for histidine at position 90. Clin Genet. 1991 Jan;39(1):6-12. PMID:1997217
- ↑ Jacobson DR, Buxbaum JN. A double-variant transthyretin allele (Ser 6, Ile 33) in the Israeli patient "SKO" with familial amyloidotic polyneuropathy. Hum Mutat. 1994;3(3):254-60. PMID:8019560 doi:https://dx.doi.org/10.1002/humu.1380030313
- ↑ Jacobson DR, Gertz MA, Buxbaum JN. Transthyretin VAL107, a new variant associated with familial cardiac and neuropathic amyloidosis. Hum Mutat. 1994;3(4):399-401. PMID:8081397 doi:https://dx.doi.org/10.1002/humu.1380030414
- ↑ Uemichi T, Gertz MA, Benson MD. Amyloid polyneuropathy in two German-American families: a new transthyretin variant (Val 107). J Med Genet. 1994 May;31(5):416-7. PMID:7914929
- ↑ Yasuda T, Sobue G, Doyu M, Nakazato M, Shiomi K, Yanagi T, Mitsuma T. Familial amyloidotic polyneuropathy with late-onset and well-preserved autonomic function: a Japanese kindred with novel mutant transthyretin (Ala97 to Gly). J Neurol Sci. 1994 Jan;121(1):97-102. PMID:8133316
- ↑ Yamamoto K, Hsu SP, Yoshida K, Ikeda S, Nakazato M, Shiomi K, Cheng SY, Furihata K, Ueno I, Yanagisawa N. Familial amyloid polyneuropathy in Taiwan: identification of transthyretin variant (Leu55-->Pro). Muscle Nerve. 1994 Jun;17(6):637-41. PMID:7910950 doi:https://dx.doi.org/10.1002/mus.880170611
- ↑ Reilly MM, Adams D, Booth DR, Davis MB, Said G, Laubriat-Bianchin M, Pepys MB, Thomas PK, Harding AE. Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy. Brain. 1995 Aug;118 ( Pt 4):849-56. PMID:7655883
- ↑ Booth DR, Tan SY, Hawkins PN, Pepys MB, Frustaci A. A novel variant of transthyretin, 59Thr-->Lys, associated with autosomal dominant cardiac amyloidosis in an Italian family. Circulation. 1995 Feb 15;91(4):962-7. PMID:7850982
- ↑ Vidal R, Garzuly F, Budka H, Lalowski M, Linke RP, Brittig F, Frangione B, Wisniewski T. Meningocerebrovascular amyloidosis associated with a novel transthyretin mis-sense mutation at codon 18 (TTRD 18G) Am J Pathol. 1996 Feb;148(2):361-6. PMID:8579098
- ↑ Petersen RB, Goren H, Cohen M, Richardson SL, Tresser N, Lynn A, Gali M, Estes M, Gambetti P. Transthyretin amyloidosis: a new mutation associated with dementia. Ann Neurol. 1997 Mar;41(3):307-13. PMID:9066351 doi:10.1002/ana.410410305
- ↑ Jacobson DR, Pan T, Kyle RA, Buxbaum JN. Transthyretin ILE20, a new variant associated with late-onset cardiac amyloidosis. Hum Mutat. 1997;9(1):83-5. PMID:8990019 doi:<83::AID-HUMU19>3.0.CO;2-L 10.1002/(SICI)1098-1004(1997)9:1<83::AID-HUMU19>3.0.CO;2-L
- ↑ Patrosso MC, Salvi F, De Grandis D, Vezzoni P, Jacobson DR, Ferlini A. Novel transthyretin missense mutation (Thr34) in an Italian family with hereditary amyloidosis. Am J Med Genet. 1998 May 1;77(2):135-8. PMID:9605286
- ↑ Dupuy O, Bletry O, Blanc AS, Droz D, Viemont M, Delpech M, Grateau G. A novel variant of transthyretin (Glu42Asp) associated with sporadic late-onset cardiac amyloidosis. Amyloid. 1998 Dec;5(4):285-7. PMID:10036587
- ↑ Misrahi AM, Plante V, Lalu T, Serre L, Adams D, Lacroix DC, Said G. New transthyretin variants SER 91 and SER 116 associated with familial amyloidotic polyneuropathy. Mutations in brief no. 151. Online. Hum Mutat. 1998;12(1):71. PMID:10627135 doi:<71::AID-HUMU15>3.0.CO;2-7 10.1002/(SICI)1098-1004(1998)12:1<71::AID-HUMU15>3.0.CO;2-7
- ↑ Booth DR, Gillmore JD, Persey MR, Booth SE, Cafferty KD, Tennent GA, Madhoo S, Cochrane SW, Whitehead TC, Pasvol G, Hawkins PN. Transthyretin Ile73Val is associated with familial amyloidotic polyneuropathy in a Bangladeshi family. Mutations in brief no. 158. Online. Hum Mutat. 1998;12(2):135. PMID:10694917 doi:<135::AID-HUMU10>3.0.CO;2-6 10.1002/(SICI)1098-1004(1998)12:2<135::AID-HUMU10>3.0.CO;2-6
- ↑ Theberge R, Connors L, Skare J, Skinner M, Falk RH, Costello CE. A new amyloidogenic transthyretin variant (Val122Ala) found in a compound heterozygous patient. Amyloid. 1999 Mar;6(1):54-8. PMID:10211412
- ↑ Connors LH, Theberge R, Skare J, Costello CE, Falk RH, Skinner M. A new transthyretin variant (Ser23Asn) associated with familial amyloidosis in a Portuguese patient. Amyloid. 1999 Jun;6(2):114-8. PMID:10439117
- ↑ Tachibana N, Tokuda T, Yoshida K, Taketomi T, Nakazato M, Li YF, Masuda Y, Ikeda S. Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy. Amyloid. 1999 Dec;6(4):282-8. PMID:10611950
- ↑ Brett M, Persey MR, Reilly MM, Revesz T, Booth DR, Booth SE, Hawkins PN, Pepys MB, Morgan-Hughes JA. Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis. Brain. 1999 Feb;122 ( Pt 2):183-90. PMID:10071047
- ↑ Nakamura M, Yamashita T, Ando Y, Hamidi Asl K, Tashima K, Ohlsson P, Kususe Y, Benson MD. Identification of a new transthyretin variant (Ile49) in familial amyloidotic polyneuropathy using electrospray ionization mass spectrometry and nonisotopic RNase cleavage assay. Hum Hered. 1999 Jul;49(4):186-9. PMID:10436378
- ↑ Nakamura M, Hamidi Asl K, Benson MD. A novel variant of transthyretin (Glu89Lys) associated with familial amyloidotic polyneuropathy. Amyloid. 2000 Mar;7(1):46-50. PMID:10842705
- ↑ Janunger T, Anan I, Holmgren G, Lovheim O, Ohlsson PI, Suhr OB, Tashima K. Heart failure caused by a novel amyloidogenic mutation of the transthyretin gene: ATTR Ala45Ser. Amyloid. 2000 Jun;7(2):137-40. PMID:10842718
- ↑ de Carvalho M, Moreira P, Evangelista T, Ducla-Soares JL, Bento M, Fernandes R, Saraiva MJ. New transthyretin mutation V28M in a Portuguese kindred with amyloid polyneuropathy. Muscle Nerve. 2000 Jul;23(7):1016-21. PMID:10882995
- ↑ Ellie E, Camou F, Vital A, Rummens C, Grateau G, Delpech M, Valleix S. Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu). Neurology. 2001 Jul 10;57(1):135-7. PMID:11445644
- ↑ Yazaki M, Varga J, Dyck PJ, Benson MD. A new transthyretin variant Leu55Gln in a patient with systemic amyloidosis. Amyloid. 2002 Dec;9(4):268-71. PMID:12557757
- ↑ Lim A, Prokaeva T, McComb ME, O'Connor PB, Theberge R, Connors LH, Skinner M, Costello CE. Characterization of transthyretin variants in familial transthyretin amyloidosis by mass spectrometric peptide mapping and DNA sequence analysis. Anal Chem. 2002 Feb 15;74(4):741-51. PMID:11866053
- ↑ Lachmann HJ, Booth DR, Booth SE, Bybee A, Gilbertson JA, Gillmore JD, Pepys MB, Hawkins PN. Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. N Engl J Med. 2002 Jun 6;346(23):1786-91. PMID:12050338 doi:10.1056/NEJMoa013354
- ↑ Blevins G, Macaulay R, Harder S, Fladeland D, Yamashita T, Yazaki M, Hamidi Asl K, Benson MD, Donat JR. Oculoleptomeningeal amyloidosis in a large kindred with a new transthyretin variant Tyr69His. Neurology. 2003 May 27;60(10):1625-30. PMID:12771253
- ↑ Busse A, Sanchez MA, Monterroso V, Alvarado MV, Leon P. A severe form of amyloidotic polyneuropathy in a Costa Rican family with a rare transthyretin mutation (Glu54Lys). Am J Med Genet A. 2004 Jul 15;128A(2):190-4. PMID:15214015 doi:10.1002/ajmg.a.30007
- ↑ Frigerio R, Fabrizi GM, Ferrarini M, Cavallaro T, Brighina L, Santoro P, Agostoni E, Cavaletti G, Rizzuto N, Ferrarese C. An unusual transthyretin gene missense mutation (TTR Phe33Val) linked to familial amyloidotic polyneuropathy. Amyloid. 2004 Jun;11(2):121-4. PMID:15478468
- ↑ Bergen HR 3rd, Zeldenrust SR, Butz ML, Snow DS, Dyck PJ, Dyck PJ, Klein CJ, O'Brien JF, Thibodeau SN, Muddiman DC. Identification of transthyretin variants by sequential proteomic and genomic analysis. Clin Chem. 2004 Sep;50(9):1544-52. Epub 2004 Jun 24. PMID:15217993 doi:10.1373/clinchem.2004.033266
- ↑ Rosenzweig M, Skinner M, Prokaeva T, Theberge R, Costello C, Drachman BM, Connors LH. A new transthyretin variant (Glu61Gly) associated with cardiomyopathy. Amyloid. 2007 Mar;14(1):65-71. PMID:17453626 doi:775700621
- ↑ Bergstrom J, Patrosso MC, Colussi G, Salvadore M, Penco S, Lando G, Marocchi A, Ueda A, Nakamura M, Ando Y. A novel type of familial transthyretin amyloidosis, ATTR Asn124Ser, with co-localization of kappa light chains. Amyloid. 2007 Jun;14(2):141-5. PMID:17577687 doi:779687106
- ↑ Altland K, Benson MD, Costello CE, Ferlini A, Hazenberg BP, Hund E, Kristen AV, Linke RP, Merlini G, Salvi F, Saraiva MJ, Singer R, Skinner M, Winter P. Genetic microheterogeneity of human transthyretin detected by IEF. Electrophoresis. 2007 Jun;28(12):2053-64. PMID:17503405 doi:10.1002/elps.200600840
- ↑ Augustin S, Llige D, Andreu A, Gonzalez A, Genesca J. Familial amyloidosis in a large Spanish kindred resulting from a D38V mutation in the transthyretin gene. Eur J Clin Invest. 2007 Aug;37(8):673-8. PMID:17635579 doi:ECI1836
- ↑ Moses AC, Rosen HN, Moller DE, Tsuzaki S, Haddow JE, Lawlor J, Liepnieks JJ, Nichols WC, Benson MD. A point mutation in transthyretin increases affinity for thyroxine and produces euthyroid hyperthyroxinemia. J Clin Invest. 1990 Dec;86(6):2025-33. PMID:1979335 doi:https://dx.doi.org/10.1172/JCI114938
- ↑ Murakami T, Tachibana S, Endo Y, Kawai R, Hara M, Tanase S, Ando M. Familial carpal tunnel syndrome due to amyloidogenic transthyretin His 114 variant. Neurology. 1994 Feb;44(2):315-8. PMID:8309582
- ↑ Herbert J, Wilcox JN, Pham KT, Fremeau RT Jr, Zeviani M, Dwork A, Soprano DR, Makover A, Goodman DS, Zimmerman EA, et al.. Transthyretin: a choroid plexus-specific transport protein in human brain. The 1986 S. Weir Mitchell award. Neurology. 1986 Jul;36(7):900-11. PMID:3714052
- ↑ Mangione PP, Porcari R, Gillmore JD, Pucci P, Monti M, Porcari M, Giorgetti S, Marchese L, Raimondi S, Serpell LC, Chen W, Relini A, Marcoux J, Clatworthy IR, Taylor GW, Tennent GA, Robinson CV, Hawkins PN, Stoppini M, Wood SP, Pepys MB, Bellotti V. Proteolytic cleavage of Ser52Pro variant transthyretin triggers its amyloid fibrillogenesis. Proc Natl Acad Sci U S A. 2014 Jan 28;111(4):1539-44. doi:, 10.1073/pnas.1317488111. Epub 2014 Jan 13. PMID:24474780 doi:https://dx.doi.org/10.1073/pnas.1317488111
|
