Predicting the impact of Lynch syndrome-causing missense mutations from structural calculations.
作者： Sofie V. Nielsen , Amelie Stein , Alexander B. Dinitzen , Elena Papaleo , Michael H. Tatham
DOI: 10.1371/JOURNAL.PGEN.1006739
关键词:
摘要: … To test this in a more general manner, we selected 24 different missense MSH2 mutants with predicted ΔΔGs spanning from -0.3 to 39.7 kcal/mol for further studies (Table 1). When …
core.ac.uk
sci-hub.st 参考文章(55)
Matthew F. Kalady, James M. Church, Prophylactic colectomy: Rationale, indications, and approach. Journal of Surgical Oncology. ,vol. 111, pp. 112- 117 ,(2015) , 10.1002/JSO.23820
Franziska Kriegenburg, Lars Ellgaard, Rasmus Hartmann-Petersen, Molecular chaperones in targeting misfolded proteins for ubiquitin-dependent degradation. FEBS Journal. ,vol. 279, pp. 532- 542 ,(2012) , 10.1111/J.1742-4658.2011.08456.X
Rasmus Hartmann-Petersen, Søs G. Mathiassen, Ida B. Larsen, Esben G. Poulsen, Christian T. Madsen, Elena Papaleo, Kresten Lindorff-Larsen, Birthe B. Kragelund, Michael L. Nielsen, Franziska Kriegenburg, A Two-step Protein Quality Control Pathway for a Misfolded DJ-1 Variant in Fission Yeast. Journal of Biological Chemistry. ,vol. 290, pp. 21141- 21153 ,(2015) , 10.1074/JBC.M115.662312
Mark S. Hipp, Sae-Hun Park, F. Ulrich Hartl, Proteostasis impairment in protein-misfolding and -aggregation diseases Trends in Cell Biology. ,vol. 24, pp. 506- 514 ,(2014) , 10.1016/J.TCB.2014.05.003
F. Ulrich Hartl, Andreas Bracher, Manajit Hayer-Hartl, Molecular chaperones in protein folding and proteostasis Nature. ,vol. 475, pp. 324- 332 ,(2011) , 10.1038/NATURE10317
M. R. Capecchi, N. E. Capecchi, S. H. Hughes, G. M. Wahl, Selective degradation of abnormal proteins in mammalian tissue culture cells. Proceedings of the National Academy of Sciences of the United States of America. ,vol. 71, pp. 4732- 4736 ,(1974) , 10.1073/PNAS.71.12.4732
Prateek Kumar, Steven Henikoff, Pauline C Ng, Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nature Protocols. ,vol. 4, pp. 1073- 1081 ,(2009) , 10.1038/NPROT.2009.86
Mario Scartozzi, Francesca Bianchi, Saverio Rosati, Eva Galizia, Annalisa Antolini, Cristian Loretelli, Andrea Piga, Italo Bearzi, Riccardo Cellerino, Emilio Porfiri, Mutations of hMLH1 and hMSH2 in Patients With Suspected Hereditary Nonpolyposis Colorectal Cancer: Correlation With Microsatellite Instability and Abnormalities of Mismatch Repair Protein Expression Journal of Clinical Oncology. ,vol. 20, pp. 1203- 1208 ,(2002) , 10.1200/JCO.2002.20.5.1203
Franziska Kriegenburg, Visnja Jakopec, Esben G. Poulsen, Sofie Vincents Nielsen, Assen Roguev, Nevan Krogan, Colin Gordon, Ursula Fleig, Rasmus Hartmann-Petersen, A Chaperone-Assisted Degradation Pathway Targets Kinetochore Proteins to Ensure Genome Stability PLoS Genetics. ,vol. 10, pp. e1004140- ,(2014) , 10.1371/JOURNAL.PGEN.1004140
T. Wiederkehr, B. Bukau, A. Buchberger, Protein turnover: a CHIP programmed for proteolysis. Current Biology. ,vol. 12, ,(2002) , 10.1016/S0960-9822(01)00644-3