Diabetes Mellitus due to Misfolding of a β-Cell Transcription Factor: Stereospecific Frustration of a Schellman Motif in HNF-1α
Tài liệu tham khảo
Yamagata, 1996, Mutations in the hepatocyte nuclear factor-1α gene in MODY-3, Nature, 384, 455, 10.1038/384455a0
Glucksmann, 1997, Novel mutations and a mutational hotspot in the MODY3 gene, Diabetes, 46, 1081, 10.2337/diab.46.6.1081
Hansen, 1997, Novel MODY3 mutations in the hepatocyte nuclear factor-1α gene: evidence for a hyperexcitability of pancreatic beta-cells to intravenous secretagogues in a glucose-tolerant carrier of a P447L mutation, Diabetes, 46, 726, 10.2337/diab.46.4.726
Vaxillaire, 1997, Identification of nine novel mutations in the hepatocyte nuclear factor 1-α gene associated with maturity-onset diabetes of the young (MODY3), Hum. Mol. Genet., 6, 583, 10.1093/hmg/6.4.583
Yamada, 1999, Identification of mutations in the hepatocyte nuclear factor-1α gene in Japanese subjects with early-onset NIDDM and functional analysis of the mutant proteins, Diabetes, 48, 645, 10.2337/diabetes.48.3.645
Pontoglio, 1996, Hepatocyte nuclear factor 1 inactivation results in hepatic dysfunction, phenylketonuria, and renal fanconi syndrome, Cell, 84, 575, 10.1016/S0092-8674(00)81033-8
Byrne, 1996, Altered insulin secretory responses to glucose in diabetic and nondiabetic subjects with mutations in the diabetes susceptibility gene MODY3 on chromosome 12, Diabetes, 45, 1503, 10.2337/diab.45.11.1503
Lehto, 1997, Characterization of the MODY3 phenotype. Early-onset diabetes caused by an insulin secretion defect, J. Clin. Invest., 99, 582, 10.1172/JCI119199
Frain, 1989, The liver-specific transcription factor LFB1 contains a highly diverged homeobox DNA binding domain, Cell, 59, 145, 10.1016/0092-8674(89)90877-5
Mendel, 1991, HNF-1, a member of a novel class of dimerizing homeodomain proteins, J. Biol. Chem., 266, 677, 10.1016/S0021-9258(17)35222-5
Tomei, 1992, A POU-A related region dictates DNA binding specificity of LFB1/HNF1 by orienting the two XL-homeodomains in the dimer, EMBO J., 11, 4119, 10.1002/j.1460-2075.1992.tb05505.x
Iwasaki, 1997, Mutations in the hepatocyte nuclear factor-lα/MODY3 gene in Japanese subjects with early- and late-onset NIDDM, Diabetes, 46, 1504, 10.2337/diab.46.9.1504
Yamada, 1997, Identification of mutations in the hepatocyte nuclear factor (HNF)-1α gene in Japanese subjects with IDDM, Diabetes, 46, 1643, 10.2337/diacare.46.10.1643
Rose, 2000, Structural basis of dimerization, coactivator recognition and MODY3 mutations in HNF-1α, Nature Struct. Biol, 7, 744, 10.1038/78966
Rose, 2000, High-resolution structure of the HNF-1α dimerization domain, Biochemistry, 39, 15062, 10.1021/bi001996t
Narayana, 2001, The dimerization domain of HNF-1α: structure and plasticity of an intertwined four-helix bundle with application to diabetes mellitus, J. Mol. Biol., 310, 635, 10.1006/jmbi.2001.4780
Chi, 2002, Diabetes mutations delineate an atypical POU domain in HNF-1α, Mol. Cell, 10, 1129, 10.1016/S1097-2765(02)00704-9
De Francesco, 1991, Circular dichroism study on the conformational stability of the dimerization domain of transcription factor: LFB1, Biochemistry, 30, 143, 10.1021/bi00215a021
Pastore, 1991, 1H resonance assignment and secondary structure determination of the dimerization domain of transcription factor LFB1, Biochemistry, 30, 148, 10.1021/bi00215a022
Mendel, 1991, Characterization of a cofactor that regulates dimerization of a mammalian homeodomain protein, Science, 254, 1762, 10.1126/science.1763325
Hansen, 1993, Regulation of the HNF-1 homeodomain proteins by DCoH, Curr. Opin. Genet. Dev., 3, 246, 10.1016/0959-437X(93)90030-S
Ficner, 1995, Three-dimensional structure of the bifunctional protein PCD/DCoH, a cytoplasmic enzyme interacting with transcription factor HNF1, EMBO J., 14, 2034, 10.1002/j.1460-2075.1995.tb07195.x
Rhee, 1997, The bifunctional protein DCoH modulates interactions of the homeodomain transcription factor HNF1 with nucleic acids, J. Mol. Biol., 265, 20, 10.1006/jmbi.1996.0708
Horikawa, 1997, Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY, Nature Genet., 17, 384, 10.1038/ng1297-384
Bach, 1993, More potent transcriptional activators or a transdominant inhibitor of the HNF1 homeoprotein family are generated by alternative RNA processing, EMBO J., 12, 4229, 10.1002/j.1460-2075.1993.tb06107.x
Chou, 1977, β-Turns in proteins, J. Mol. Biol., 115, 135, 10.1016/0022-2836(77)90094-8
Rose, 1985, Turns in peptides and proteins, Adv. Protein Chem., 37, 1, 10.1016/S0065-3233(08)60063-7
Anil, 2004, Exploiting the right side of the Ramachandran plot: substitution of glycines by D-alanine can significantly increase protein stability, J. Am. Chem. Soc., 126, 13194, 10.1021/ja047119i
Nakagawa, 2005, Chiral mutagenesis of insulin. Foldability and function are inversely regulated by a sterospecific switch in the B chain, Biochemistry, 44, 4984, 10.1021/bi048025o
Schellman, 1980, The αL conformation at the ends of helices
Nanda, 2004, Simulated evolution of emergent chiral structures in polyalanine, J. Am. Chem. Soc., 126, 14459, 10.1021/ja0461825
Hua, 2000, Diabetes-Associated mutations in a β-cell transcription factor destabilize an anti-parallel “mini-zipper” in a dimerization interface, Proc. Natl Acad. Sci. USA, 97, 1999, 10.1073/pnas.97.5.1999
Laskowski, 1993, PROCHECK: a program to check the stereochemical quality of protein structures, J. Appl. Crystallog., 26, 283, 10.1107/S0021889892009944
DeGrado, 1987, The design of a four-helix bundle protein, Cold Spring Harbor Symp. Quant. Biol., 52, 521, 10.1101/SQB.1987.052.01.059
Kidokoro, 1987, Determination of thermodynamic functions from scanning calorimetry data, Biopolymers, 26, 213, 10.1002/bip.360260205
Kuroki, 1998, Structural and thermodynamic responses of mutations at a Ca2+ binding site engineered into human lysozyme, J. Biol. Chem., 273, 34310, 10.1074/jbc.273.51.34310
Privalov, 1995, Precise scanning calorimeter for studying thermal properties of biological macromolecules in dilute solution, Anal. Biochem., 232, 79, 10.1006/abio.1995.9957
Brunet, 1993, The role of turns in the structure of an alpha-helical protein, Nature, 364, 355, 10.1038/364355a0
Zhou, 1996, In vitro evolution of thermodynamically stable turns, Nature Struct. Biol., 3, 446, 10.1038/nsb0596-446
Predki, 1996, Amino-acid substitutions in a surface turn modulate protein stability, Nature Struct. Biol., 3, 54, 10.1038/nsb0196-54
Lahr, 2005, Analysis and design of turns in alpha-helical hairpins, J. Mol. Biol., 346, 1441, 10.1016/j.jmb.2004.12.016
Ybe, 1996, Sequence replacements in the central beta-turn of plastocyanin, Protein Sci., 5, 814, 10.1002/pro.5560050503
Waldburger, 1995, Are buried salt bridges important for protein stability and conformational specificity?, Nature Struct. Biol., 2, 122, 10.1038/nsb0295-122
Wang, 1996, Statistics of kinetic pathways on biased rough energy landscapes with applications to protein folding, Phys. Rev. Letters, 76, 10.1103/PhysRevLett.76.4861
Dawson, 2000, Synthesis of native proteins by chemical ligation, Annu. Rev. Biochem., 69, 923, 10.1146/annurev.biochem.69.1.923
Hua, 1996, Mapping the functional surface of insulin by design: structure and function of a novel A-chain analogue, J. Mol. Biol., 264, 390, 10.1006/jmbi.1996.0648
Baker, 1988, The structure of 2Zn pig insulin crystals at 1.5 Å resolution, Phil. Trans. Roy. Soc. ser. B, 319, 368
Kuhlman, 1998, Global analysis of the effects of temperature and denaturant on the folding and unfolding kinetics of the N-terminal domain of the protein L9, J. Mol. Biol., 284, 1661, 10.1006/jmbi.1998.2246
Dieckmann, 1998, Structure of a human DNA repair protein UBA domain that interacts with HIV-1 Vpr, Nature Struct. Biol., 5, 1042, 10.1038/4220
Mueller, 2002, Solution structures of UBA domains reveal a conserved hydrophobic surface for protein–protein interactions, J. Mol. Biol., 319, 1243, 10.1016/S0022-2836(02)00302-9
Karle, 2003, Crystal structure of a hydrophobic 19-residue peptide helix containing three centrally located D amino acids, Proc. Natl Acad. Sci. USA, 100, 13946, 10.1073/pnas.2336106100
DeGrado, 1999, De novo design and structural characterization of proteins and metalloproteins, Annu. Rev. Biochem., 68, 779, 10.1146/annurev.biochem.68.1.779
Leslie, 2006, The integration of macromolecular diffraction data, Acta Crystallog. sect. D, Biol, 62, 48, 10.1107/S0907444905039107
Brunger, 1998, Crystallography & NMR system: a new software suite for macromolecular structure determination, Acta Crystallog. sect. D, 54, 905, 10.1107/S0907444998003254
Tronrud, 1997, TNT refinement package, Methods Enzymol., 277, 306, 10.1016/S0076-6879(97)77017-4
Jones, 1991, Improved methods for building protein models in electron density maps and the location of errors in these models, Acta Crystallog. sect. A, 47, 110, 10.1107/S0108767390010224
Aparicio, 2003, Closed conformation of the active site loop of rabbit muscle triosephosphate isomerase in the absence of substrate: evidence of conformational heterogeneity, J. Mol. Biol., 334, 1023, 10.1016/j.jmb.2003.10.022
Symersky, 2003, Structural genomics of Caenorhabditis elegans: triosephosphate isomerase, Proteins: Struct. Funct. Genet., 51, 484, 10.1002/prot.10364
Jia, 1994, The 1.6 Å structure of histidine-containing phosphotransfer protein HPr from Streptococcus faecalis, J. Mol. Biol., 236, 1341, 10.1016/0022-2836(94)90062-0
