Structural distribution of mutations associated with familial amyloidotic polyneuropathy in human transthyretin

Amyloid

Volumn 8, Issue 3, 2001, Pages 149-168

  Eneqvist, T ^a   Sauer Eriksson, A E ^a  

^a UMEÅ UNIVERSITY   (Sweden)

Author keywords

Amyloid; Evolution; Familial amyloidotic polyneuropathy; Retinol binding protein; Structure; Thyroid hormone; Transthyretin; slip

Indexed keywords

AMYLOID; PREALBUMIN;

AMYLOID NEUROPATHY; ARTICLE; CONFORMATIONAL TRANSITION; GENE MUTATION; HUMAN; NONHUMAN; POINT MUTATION; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN CONFORMATION; PROTEIN STABILITY; SEQUENCE ANALYSIS;

EID: 0034813793     PISSN: 13506129     EISSN: None     Source Type: Journal    
DOI: 10.3109/13506120109007359     Document Type: Article

References (82)

1. The evolution of gene expression, structure and function of transthyretin
2. Evolution of the thyroid hormone-binding protein, transthyretin
3. The amino acid sequence of human plasma prealbumin
4. Rat transthyretin (prealbumin). Molecular cloning, nucleotide sequence, and gene expression in liver and brain
5. The primary structure of rabbit and rat prealbumin and a comparison with the tertiary structure of human prealbumin
6. Structural comparisons between mouse and human prealbumin
7. The nucleotide sequence of transthyretin cDNA isolated from a sheep choroid plexus cDNA library
8. Isolation, characterization, cDNA cloning and gene expression of an avian transthyretin. Implications for the evolution of structure and function of transthyretin in vertebrates
9. Transthyretin gene expression in choroid plexus first evolved in reptiles
10. The cerebral expression of plasma protein genes in different species
11. Wallaby transthyretin
12. Binding of thyroxine to pig transthyretin, its cDNA structure, and other properties
13. Evolution of transthyretin in marsupials
14. Evolution of shorter and more hydrophilic transthyretin N-termini by stepwise conversion of exon 2 into intron 1 sequences (shifting the 3′ splice site of intron 1)
15. Structural characteristics of bullfrog (Rana catesbeiana) transthyretin and its cDNA - Comparison of its pattern of expression during metamorphosis with that of lipocalin
16. Cloning of putative piscine (Sparus aurata) transthyretin: Developmental expression and tissue distribution
17. Identification of transthyretin in fish (Sparus aurata): cDNA cloning and characterisation
18. The evolution of the thyroid hormone distributor protein transthyretin in the order insectivora, class mammalia
19. Purification and characterization of a 3,5,3′-L-triiodothyronine- specific binding protein from bullfrog tadpole plasma: A homolog of mammalian transthyretin
20. Evolution of thyroid hormone binding by transthyretins in birds and mammals
21. Purification and characterization of thyroid-hormone-binding protein from masu salmon serum. A homolog of higher-vertebrate transthyretin
22. Structure of prealbumin: Secondary, tertiary and quaternary interactions determined by Fourier refinement at 1.8 A
23. The x-ray crystal structure refinements of normal human transthyretin and the amyloidogenic Val-30→Met variant to 1.7-Å resolution
24. A comparative analysis of 23 structures of the amyloidogenic protein transthyretin
25. Crystal structure of rat transthyretin at 2.5 Å resolution: First report on a unique tetrameric structure
26. The crystal structure of transthyretin from chicken
27. Structure of a complex of two plasma proteins: Transthyretin and retinol-binding protein
28. The structure of human retinol-binding protein (RBP) with its carrier protein transthyretin reveals an interaction with the carboxy terminus of RBP
29. The alternative conformations of amyloidogenic proteins and their multi- step assembly pathways
30. Amyloid fibrillogenesis: Themes and variations
31. Fibril in senile systemic amyloidosis is derived from normal transthyretin
32. Transthyretin mutations in health and disease
33. Transthyretin amyloidosis
34. Tabulation of transthyretin (TTR) variants as of 1/1/2000
35. New transthyretin mutation V28M in a Portuguese kindred with amyloid polyneuropathy
36. The "edge strand" hypothesis: Prediction and test of a mutational "hot-spot" on the transthyretin molecule associated with FAP amyloidogenesis
37. Characterization of two highly amyloidogenic mutants of transthyretin
38. The β-Slip: A novel concept in transthyretin amyloidosis
39. CLUSTAL W: Improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice
40. The piscine plasma retinol-binding protein. Purification, partial amino acid sequence and interaction with mammalian transthyretin of rainbow trout (Oncorhynchus mykiss) retinol-binding protein
41. Estrogen induces transcription of the Xenopus laevis serum retinol- binding protein gene
42. Retinol in avian oogenesis: Molecular properties of the carrier protein
43. Amino acid sequence homologies between rabbit, rat, and human serum retinol-binding proteins
44. Induction of mouse retinol binding protein gene expression by cyclic AMP in Hepa cells
45. The bovine plasma retinol-binding protein. Amino acid sequence, interaction with transthyretin, CD, stallization and preliminary X-ray data
46. Changes in equine endometrial retinol-binding protein RNA during the estrous cycle and early pregnancy and with exogenous steroids
47. The retinol-binding protein of the expanding pig blastocyst: Molecular cloning and expression in trophectoderm and embryonic disc
48. Cloning and sequencing of a full length cDNA coding for human retinol- binding protein
49. Improved methods for binding protein models in electron density maps and the location of errors in these models
50. The crystal structure of amyloidogenic Leu55 → Pro transthyretin variant reveals a possible pathway for transthyretin polymerization into amyloid fibrils
51. Structures of human transthyretin complexed with thyroxine at 2.0Å resolution and 3′,5′-dinitro-N-acetyl-L-thyronine at 22Å resolution
52. Crystallography & NMR system: A new software suite for macromolecular structure determination
53. MOLSCRIPT: A program to produce both detailed and schematic plots of protein structures
54. Raster3D Photorealistic molecular graphics
55. Some factors in the interpretation of protein denaturation
56. Thyroxine binding to transthyretin Met 119. Comparative studies of different heterozygotic carriers and structural analysis
57. The Ile-84→Ser amino acid substitution in transthyretin interferes with the interaction with plasma retinol-binding protein
58. Characterization of transthyretin mutants from serum using immunoprecipitation, HPLC/electrospray ionization and matrix-assisted laser desorption/ionization mass spectrometry
59. Investigation into thiol conjugation of transthyretin in hereditary transthyretin amyloidosis
60. Impact of age and amyloidosis on thiol conjugation of transthyretin in hereditary transthyretin amyloidosis
61. Amyloid fibril composition and transthyretin gene structure in senile systemic amyloidosis
62. Modifications of transthyretin in amyloid fibrils: Analysis of amyloid from homozygous and heterozygous individuals with the Met30 mutation
63. The denatured state (the other half of the folding equation) and its role in protein stability
64. A chemical approach to elucidate the mechanism of transthyretin and β-protein amyloid fibril formation
65. A glimpse of a possible amyloidogenic intermediate of transthyretin
66. Deuterium-proton exchange on the native wild-type transthyretin tetramer identifies the stable core of the individual subunits and indicates mobility at the subunit interface
67. Comparative stability and clearance of (Met30)transthyretin and (Met119) transthyretin
68. Contributions of the large hydrophobic amino acids to the stability of staphylococcal nuclease
69. Principles of protein stability derived from protein engineering experiments
70. Structural and genetic analysis of the folding and function of T4 lysozyme
71. The introduction of strain and its effects on the structure and stability of T4 lysozyme
72. Protein stability effects of a complete set of alanine substitutions in Arc repressor
73. Nine hydrophobic side chains are key determinants of the thermodynamic stability and oligomerization status of tumour suppressor p53 tetramerization domain
74. Structure and thermal stability of phage T4 lysozyme
75. Similar hydrophobic replacements of Leu99 and Phe153 within the core of T4 lysozyme have different structural and thermodynamic consequences
76. Sequence determinants of folding and stability for the P22 Arc repressor dimer
77. Structural analysis of a non-contiguous second-site revertant in T4 lysozyme shows that increasing the rigidity of a protein can enhance its stability
78. Guanidine hydrochloride-induced denaturation and refolding of transthyretin exhibits a marked hysteresis: Equilibria with high kinetic barriers
79. Protein subunit interactions and structural integrity of amyloidogenic transthyretins: Evidence from electrospray mass spectrometry
80. Review: TTR amyloidosis-structural features leading to protein aggregation and their implications on therapeutic strategies
81. Comparison of lethal and nonlethal transthyretin variants and their relationship to amyloid disease
82. A new isoleucine substitution of Val-20 in transthyretin tetramers selectively impairs dimer-dimer contacts and causes systemic amyloidosis