Amelie Stein

Amelie Stein

Associate Professor

ORCID: 0000-0002-5862-1681

Publication year:
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11 - 20 out of 40Page size: 10
  1. 2019
  2. Published

    Toward mechanistic models for genotype-phenotype correlations in phenylketonuria using protein stability calculations

    Scheller, R., Stein, Amelie, Nielsen, S. V., Marin, F. I., Gerdes, Anne-Marie Axø, Di Marco, M., Papaleo, E., Lindorff-Larsen, Kresten & Hartmann-Petersen, Rasmus, 2019, In: Human Mutation. 40, 4, p. 444-457

    Research output: Contribution to journal › Journal article › Research › peer-review

  3. 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. 575-588

    Research output: Contribution to journal › Review › Research › peer-review

  4. 2020
  5. 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

  6. 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

  7. 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. 91-107

    Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Research › peer-review

  8. 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

  9. 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, Cantarero Arevalo, Lourdes, Kristiansen, Maria, Lund, Marianne N., Borregaard, Michael Krabbe, Høyland-Kroghsbo, Nina Molin, Iversen, Rune, Viskum, U., Nosch, Marie Louise Bech & Hjorth, Jens, 2020, University of Copenhagen. 31 p.

    Research output: Book/Report › Report › Communication

  10. 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. 111-125

    Research output: Chapter in Book/Report/Conference proceeding › Book chapter › Research › peer-review

  11. 2021
  12. 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. 3235-3246

    Research output: Contribution to journal › Journal article › Research › peer-review

  13. 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

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ID: 144764550