Amelie Stein
Associate Professor
Computational and RNA Biology
Ole Maaløes Vej 5
2200 København N.
- 2021
- Published
Mapping the degradation pathway of a disease-linked aspartoacylase variant
Gersing, S. K., Wang, Y., Grønbæk-Thygesen, Martin, Kampmeyer, Caroline, Bjørnkjær, Lene, Willemoës, Martin, Andréasson, C., Stein, Amelie, Lindorff-Larsen, Kresten & Hartmann-Petersen, Rasmus, 2021, In: PLOS Genetics. 17, 4, 28 p., e1009539.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Multiplexed assays reveal effects of missense variants in MSH2 and cancer predisposition
Nielsen, S. V., Hartmann-Petersen, Rasmus, Stein, Amelie & Lindorff-Larsen, Kresten, 2021, In: PLOS Genetics. 17, 4, 6 p., e1009496.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Understanding the Origins of Loss of Protein Function by Analyzing the Effects of Thousands of Variants on Activity and Abundance
Cagiada, Matteo, Johansson, Kristoffer Enøe, Valanciute, A., Nielsen, S. V., Hartmann-Petersen, Rasmus, Yang, J. J., Fowler, D. M., Stein, Amelie & Lindorff-Larsen, Kresten, 2021, In: Molecular Biology and Evolution. 38, 8, p. 3235-3246Research output: Contribution to journal › Journal article › Research › peer-review
- 2020
- Published
24 Messages on a Sustainable Career in Research at UCPH
Larsen, K. R. (ed.), Wegener, H. C., Stein, A., Bach, A., Williams, A. R., Gall, C., Gravert, C., Gloriam, D. E., Lorenzen, E., Yvanez, E., Cappellini, E., Poulsen, F., Mortensen, J., Bentzen, J. S., Shik, J. Z., Miskowiak, K. W., Elgaard, K. K. E., Jønsson, K. A., Won, K. J., Nørgaard, L. C. & 9 others, , 2020, University of Copenhagen. 31 p.Research output: Book/Report › Report › Communication
- Published
Classifying disease-associated variants using measures of protein activity and stability
Jepsen, M. M., Fowler, D. M., Hartmann-Petersen, Rasmus, Stein, Amelie & Lindorff-Larsen, Kresten, 2020, Protein Homeostasis Diseases: Mechanisms and Novel Therapies. Pey, A. L. (ed.). Elsevier, p. 91-107Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Research › peer-review
- Published
Co-Chaperones in Targeting and Delivery of Misfolded Proteins to the 26S Proteasome
Abildgaard, A. B., Gersing, S. K., Larsen-Ledet, Sven, Nielsen, S. V., Stein, Amelie, Lindorff-Larsen, Kresten & Hartmann-Petersen, Rasmus, 2020, In: Biomolecules. 10, 8, 24 p., 1141.Research output: Contribution to journal › Review › Research › peer-review
- Published
Folliculin variants linked to Birt-Hogg-Dubé syndrome are targeted for proteasomal degradation
Bjørnkjær, Lene, Stein, Amelie, Grønbæk-Thygesen, Martin, Nygaard, L., Søltoft, C. L., Nielsen, S. V., Lisby, Michael, Ravid, T., Lindorff-Larsen, Kresten & Hartmann-Petersen, Rasmus, 2020, In: PLOS Genetics. 16, 11, 28 p., e1009187.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Novel HARS2 missense variants identified in individuals with sensorineural hearing impairment and Perrault syndrome
Karstensen, H. G., Rendtorff, N. D., Hindbæk, L. S., Colombo, R., Stein, Amelie, Birkebæk, N. H., Hartmann-Petersen, Rasmus, Lindorff-Larsen, Kresten, Højland, A. T., Petersen, M. B. & Tranebjærg, Lisbeth, 2020, In: European Journal of Medical Genetics. 63, 3, 6 p., 103733.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Protein destabilization and degradation as a mechanism for hereditary disease
Nielsen, S. V., Schenstrøm, S. M., Christensen, Caspar Elo, Stein, Amelie, Lindorff-Larsen, Kresten & Hartmann-Petersen, Rasmus, 2020, Protein Homeostasis Diseases: Mechanisms and Novel Therapies. Pey, A. L. (ed.). Elsevier, p. 111-125Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Research › peer-review
- 2019
- Published
Biophysical and Mechanistic Models for Disease-Causing Protein Variants
Stein, Amelie, Fowler, D. M., Hartmann-Petersen, Rasmus & Lindorff-Larsen, Kresten, 2019, In: Trends in Biochemical Sciences. 44, 7, p. 575-588Research output: Contribution to journal › Review › Research › peer-review
ID: 144764550
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304
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Predicting the impact of Lynch syndrome-causing missense mutations from structural calculations
Research output: Contribution to journal › Journal article › Research › peer-review
Published -
174
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Computational and cellular studies reveal structural destabilization and degradation of MLH1 variants in Lynch syndrome
Research output: Contribution to journal › Journal article › Research › peer-review
Published -
105
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Co-Chaperones in Targeting and Delivery of Misfolded Proteins to the 26S Proteasome
Research output: Contribution to journal › Review › Research › peer-review
Published